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Diseases » Febrile Seizures » Diagnosis

Diagnosis of Febrile Seizures

Diagnostic Test list for Febrile Seizures:

The list of medical tests mentioned in various sources as used in the diagnosis of Febrile Seizures includes:

Body temperature
Tests for fever
EEG tests
See also tests for epilepsy

Febrile Seizures Diagnosis: Book Excerpts

Tests and diagnosis discussion for Febrile Seizures:

Doctors sometimes perform tests to be sure that seizures are not caused by something other than simply the fever itself. The majority of children with febrile seizures have rectal temperatures greater than 102 degrees F. Most febrile seizures occur during the first day of a child's fever. (Source: excerpt from NINDS Febrile Seizures Information Page: NINDS)

Diagnostic Tests for Febrile Seizures: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Febrile Seizures.

FEVER, ACUTE: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

Is there a history of drug ingestion or injection? This will help diagnose drug reactions and serum sickness, which are common and easily discovered in the history. Patients with glucose-6-phosphate dehydrogenase deficiency may develop fever after receiving certain drugs.
Is there a rash? The presence of a rash should make one think of a drug reaction, meningococcemia, the various exanthems, and subacute bacterial endocarditis.
Is there localized pain? If there is a sore throat, obviously streptococcal pharyngitis or a viral URI is likely. If there is headache, meningitis or encephalitis must be considered. If there is chest pain, one should consider a pulmonary infarct, myocardial infarction, or Bornholm disease. If there is abdominal pain, one would consider pyelonephritis, cholecystitis, and appendicitis among the various conditions. If there is joint pain, one should consider rheumatic fever, rheumatoid arthritis, or septic arthritis.
Is there a focal discharge? A productive cough would make one consider pneumonia. A rectal discharge would make one consider a perirectal abscess. A urethral discharge should make one think of gonorrhea.
Are there other localizing signs? Frequency of urination should make one think of pyelonephritis. A productive cough should make one think of pneumonia, whereas jaundice would make one think of hepatitis.

DIAGNOSTIC WORKUP

Routine studies include a CBC, sedimentation rate, chemistry panel, urinalysis, chest x-rays, VDRL test, and tuberculin skin test. Serial blood cultures should be done on all patients. Febrile agglutinins usually should be done. An ASO titer or streptozyme test should be done to exclude rheumatic fever. RNA, ANA, and DNA tests should be done to look for lupus and other connective tissue disease. An HIV antibody titer may need to be ordered.

The next step is to culture any discharge or various body fluids that might be suspect. Thus, a urinalysis and urine culture should be done. A nose and throat culture should be done. A sputum smear and culture may need to be done. The next consideration is to do various serologic tests. A heterophile antibody titer should be done in teenagers. Febrile agglutinin tests may need to be done. Acute and convalescent phase sera for viral studies may need to be done.

Next one should do skin testing. Thus, histoplasmin, coccidioidin, and blastomycin skin testing should be done on patients with a cough. Trichinella skin testing may need to be done, as well as brucellin skin testing. A Kveim test might need to be done for suspected sarcoidosis.

The next step is to do plain x-rays of suspected areas. For instance, x-rays of the teeth may disclose an abscessed tooth. X-rays of the long bones may disclose a metastatic carcinoma.

The next step is contrast x-ray studies of various organ systems. An intravenous pyelogram may show a hypernephroma. A cholecystogram may show gallstones. An upper GI series and barium enema may show chronic pancreatitis or diverticulitis. Angiography may disclose periarteritis nodosa, aortitis or giant cell arteritis.

The next step is to do a CT scan of the abdomen and pelvis. If this is negative, consider a CT scan of the chest and mediastinum. Echocardiography may disclose valvular vegetations or an atrial myxoma.

Next, consider biopsying various organ systems. For instances, a lymph node biopsy may disclose a lymphoma or sarcoidosis. A muscle biopsy may disclose periarteritis nodosa, polymyositis, or trichinella.

Next one should do bone scans and gallium scans for possible metastasis, osteomyelitis, or localized abscesses.

If all these procedures fail to turn up a lesion, then an exploratory laparotomy may need to be done. A fibrin test may indicate Mediterranean fever, or urine for etiocholanolone may also indicate a relapsing type of fever. A urine test for porphobilinogen may diagnose porphyria.

The wisest move is to conduct this investigation with the help of an infectious disease specialist or a specialist in the body organ system most likely suspected of harboring the infection.

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

FEVER, CHRONIC: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

Is there a history of drug ingestion or injection? Of course, the history should reveal that the patient has been on a certain drug or has received certain antitoxins, serums, or vaccines.
Is there a rash? If there is a rash, one should suspect subacute bacterial endocarditis, Rocky Mountain spotted fever, secondary syphilis, rat-bite fever, pemphigus, a drug reaction, lupus erythematosus, dermatomyositis, or typhoid fever. There are other conditions associated with a rash also.
Is there a characteristic pattern to the fever? The various forms of malaria give a characteristic pattern of the fever, as well as undulant fever in Hodgkin's disease.
Is there localized pain? Abdominal pain should suggest a cholecystitis, hepatic abscess, diverticulitis, etc. A sore throat should suggest infectious mononucleosis, leukemia, and subacute thyroiditis. Joint pain should suggest rheumatoid arthritis, rheumatic fever, or gonococcal arthritis. Earache should suggest otitis media or mastoiditis. Chest pain should suggest tuberculosis, pleurisy, or empyema.
Is there a localized discharge? Purulent sputum should suggest pneumonia, tuberculosis, or chronic fungal disease in the lung. A urethral discharge would suggest gonorrhea or Reiter's disease.
Is there a localized mass or swelling? An abdominal mass would suggest hepatic abscess, pancreatic cyst, or diverticular abscess. A flank mass might suggest hypernephroma or perinephric abscess.

DIAGNOSTIC WORKUP

The diagnostic workup is similar to that for acute fever on page 168 .

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

CONVULSIONS: Ask the following questions:
(Algorithmic Diagnosis of Symptoms and Signs)

Are the episodes of loss of consciousness really seizures? Real seizures, especially grand mal, present with incontinence and/or tongue biting. Hysterical seizures with actual tonic or clonic movements may occur, but there is no tongue biting or incontinence. Syncope usually is not accompanied by convulsive movements, but it occasionally can be after the drop in blood pressure or anoxia to the brain has continued for a period of time. If there are no convulsive movements to the blackouts, then the possibility of syncope must be considered. In addition, cerebrovascular accidents, narcolepsy, and breath-holding attacks must be considered when there are no definite convulsive movements.
Is there a history of drug or alcohol abuse? Alcohol withdrawal seizures and seizures due to cocaine abuse are becoming more common. Patients frequently lie about their use of illicit drugs or alcohol. In young adults and teenagers, a urine drug screen should be done.
Is there fever? Fever should make one think of meningitis or encephalitis, or if it has been extended over a longer period of time, a cerebral abscess. In children, one should consider the possibility of febrile convulsions.
What type of seizure disorder is it? If there are convulsions, are they focal or jacksonian type? That would certainly suggest a space-occupying lesion as opposed to a generalized convulsion. Loss of awareness with no actual collapse for 1 minute or less is suggestive of a petit mal type seizure. In these seizures, the patient just simply stares. Longer attacks of loss of awareness are more likely to be due to complex partial seizures and occasionally an observer will note unusual behavior during these episodes. The patient may note unusual odors.
Are there focal neurologic signs and papilledema? These findings are more typical of a space-occupying lesion such as a cerebral tumor, cerebral abscess, or a subdural hematoma.

DIAGNOSTIC WORKUP

All patients should receive a CBC, urinalysis, sedimentation rate, ANA, VDRL test, and chemistry panel. Patients with high-risk behavior should have HIV testing. In older patients, a chest x-ray should be done to look for the possibility of a primary lung tumor. A urine drug screen is useful especially in young adults. All patients also need a wake-and-sleep EEG. Ambulatory EEG monitoring can now be done in the hospital or an outpatient setting with a digitrace device. In the elderly, four-vessel angiography or magnetic resonance angiography may be needed to distinguish transient ischemic attacks from epilepsy. There is some argument over whether a CT scan or MRI should be done on all patients with definite convulsions. The author believes that a CT scan should be done on all patients, even those without focal neurologic signs or papilledema. Isotope brain scans, arteriography, and pneumoencephalography are no longer indicated unless something is found on the CT scan that needs further clarification. A spinal tap should also be done when there is fever or when central nervous system lues or multiple sclerosis are suspected. VEPs and BSEPs may also help diagnose multiple sclerosis. It should be noted that seizures occur in 7% of cases with multiple sclerosis. In patients with frequent attacks, a trial of anticonvulsant drugs may be diagnostic.

A consultation with a neurologic specialist can be done at any point in this workup. Certainly, it would be very important to have it done early if there are focal neurologic signs or papilledema.

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Fever: Differential Diagnosis
(In a Page: Signs and Symptoms)

Infection is the most common cause
–Viral (e.g., influenza, HIV, hepatitis, herpes simplex encephalitis, mononucleosis, adenovirus)
–Bacterial (e.g., pneumonia, endocarditis, tuberculosis, meningitis, pyelonephritis, appendicitis, cholecystitis, cellulitis)
–Lyme disease
–Malaria
–Syphilis
–Tularemia
–Intra-abdominal abscess

Malignancy
–Lymphoma (Hodgkin's and non-Hodgkin's)
–Lymphoproliferative disorders
–Renal cell carcinoma
–Leukemia
–Hepatocellular carcinoma
Rheumatologic disorders
–Temporal arteritis/giant cell arteritis
–Adult-onset Still's disease
–Systemic lupus erythematosus
–Sarcoidosis
–Rheumatoid arthritis
Drug fever
–Often temporally associated with the initiation of a new medicine
–Often associated with a rash (biopsy reveals leukocytoclastic vasculitis)
–Eosinophilia is common

Pulmonary embolism
–Mild fever is often present
–Other findings of thromboembolic disease (e.g., leg swelling, dyspnea) may be present

Osteomyelitis

Occult abscess

Malignant hypothermia

Workup and Diagnosis

Complete history and physical examination
–In most cases, the cause of fever will be suggested during the history and physical
–Note characteristics of the fever, maximum temperature, presence of diurnal variation, and recent travel
Initial laboratory studies may include CBC with differential, electrolytes, BUN/creatinine, glucose, calcium, urinalysis, urine cultures, liver function tests, and ESR
Blood cultures, including thick smear of the blood to evaluate for parasites (e.g., malaria)
Chest X-ray may reveal focus of infection (e.g., pneumonia, tuberculosis, malignancy)
Lumbar puncture for CSF analysis may be indicated
CT scan of chest and abdomen may reveal an occult infection, abscess, or malignancy
Echocardiogram is indicated if suspect infective endocarditis or aortitis (syphilis)
Tagged white cell scans may be used to localize abscess
Bone marrow biopsy may be indicated if leukemia or a myelodysplastic syndrome is suspected

» READ BOOK EXCERPT ONLINE »

Source: In a Page: Signs and Symptoms, 2004

Seizures/Convulsions: Differential Diagnosis
(In a Page: Signs and Symptoms)

Partial seizure (involve only part of the brain)
–Simple (no altered consciousness)
–Complex (with altered consciousness)
Generalized seizure (involve both hemispheres)
–Tonic-clonic
–Atonic
–Tonic
–Myoclonic
–Absence
Epilepsy
–Recurrent unprovoked seizures of any or multiple types, which may be idiopathic or symptomatic
- Secondary seizure
  –Metabolic abnormalities (e.g., electrolyte disturbances, hypoglycemia)
  –Drug effects, intoxication, or withdrawal
  –Head injury/trauma
  –Febrile seizures in children
  –Structural lesions (e.g., tumor, subdural hematoma)
  –Cerebrovascular etiologies (e.g., cerebral infarct, intracerebral hemorrhage, subarachnoid hemorrhage
  –Hypoxic-ischemic encephalopathy
  –Infection (e.g., meningitis, encephalitis)
  –Hypoxia
- Nonepileptic seizure
  –Not associated with abnormal electrical activity in the brain
  –Patients with loss of consciousness secondary to cerebral hypoperfusion (fainting, syncope) may occasionally exhibit brief periods of twitching or convulsive movements resembling seizure activity
  –Psychological disturbances (pseudoseizure)
- Inborn errors of metabolism
  –Disorders of amino acid metabolism
  –Organic acidemias
  –Urea cycle disorders
  –Mitochondrial disorders
  –Peroxisomal disorders
  –Glycogen storage disorders
  –Disorders of sugar metabolism
- Rasmussen's encephalitis
  –Causes seizures and progressive hemispheric dysfunction in infants
Workup and Diagnosis
- History and physical examination
  –In many instances, the most useful history is obtained from a witness of the seizure rather than the patient him- or herself, because seizures commonly cause altered consciousness and may result in postictal confusion
  –Appropriate classification of seizure type may help to suggest etiology and treatment (e.g., a partial seizure resulting in isolated clonic jerking of the right arm is suggestive of pathology in the left frontal lobe)
  –Evidence of postictal paralysis on examination may also help to suggest the part of the brain involved
- Initial labs should include CBC, electrolytes, glucose, O₂saturation, calcium, magnesium, glucose, and BUN/creatinine
- CT is suitable for emergent evaluation, but MRI is more sensitive
- CSF examination if CNS infection (e.g., meningitis) or subarachnoid hemorrhage is suspected
- Drug screen and ethanol level
- EEG
- Video EEG monitoring may be useful in cases of refractory epilepsy as part of evaluation for epilepsy surgery or suspected nonepileptic seizures

» READ BOOK EXCERPT ONLINE »

Source: In a Page: Signs and Symptoms, 2004

Rash with Fever: Differential Diagnosis
(In a Page: Signs and Symptoms)

Viral exanthems
–Leading cause of fever and rash in childhood
–Most children present with low-grade fevers, viral prodromal symptoms, and a secondary diffuse exanthem that is usually nonspecific and morbilliform
–Often last only a few days and requires only supportive management
Drug reactions
–Account for a large portion of rashes with associated fever
–Immune complex disease or serum sickness has been reported with many medications
Meningococcemia
–Most common under age 1
–After a brief prodrome; onset is abrupt with spiking fevers, diffuse purpuric lesions, delirium, and death
–DIC and purpura fulminans with secondary necrosis of digits and limbs can occur

Rocky Mountain Spotted Fever
–A fulminant and deadly rickettsial disease transmitted by a tick bite
–Only 60% of patients are aware of tick bite
–Characteristic rash starts acrally on wrists and ankles and spreads toward the trunk
–Initially, pink macules evolve over 10–24 hours into red papules, then purpuric macules and violaceous patches involving most of the body surface area
–Necrosis and DIC may occur
Toxic shock syndrome, Staphylococcus aureus, and streptococcal diseases
–Most cases due to toxin production
–Rapid onset of fever, hypotension with generalized skin (palms and soles common) and mucous membrane erythema (“erythroderma” in case definition), and subsequent multiorgan failure
–Palmar/solar desquamation in 1–3 weeks
–A morbilliform rash and skin “pain” or hyperesthesia is common
–Nonsurgical and surgical wounds are often the source of infection in the more common nonmenstrual variant of TSS

Fifth disease
Measles
Rubella
Parvovirus
Varicella

Workup and Diagnosis

Because of a seemingly endless list of possible etiologies for fever and rash, a focused history and physical exam are essential to a quick, accurate diagnosis
Determine whether the patient appears toxic; age and presence of co-morbid conditions aid diagnosis
If there is any evidence of purpura;
–Quickly consider the diagnosis of RMSF, meningococcemia, or systemic vasculitis
–In the cases of meningococcemia and RMSF, the diagnosis must be made empirically, then later confirmed so that therapy is immediately initiated

Obtain bacterial cultures from any wounds, culture the pharynx if indicated, and consider skin biopsy and culture; blood cultures are indicated in toxic patients; consider immediate lumbar puncture for CSF culture and Gram stain if meningococcemia is suspected

Acute and convalescent antibody titers can confirm RMSF; skin biopsy with immunofluorescnce may demonstrate a vasculitis with visible rickettsial organisms within the endothelium

TSS is often diagnosed by history and examination alone; recent cutaneous injury and nonspecific morbilliform rash in a hypotensive patient in association with the presence of epidermal necrosis on skin biopsy can confirm the diagnosis; wound cultures with growth of staph or strep

» READ BOOK EXCERPT ONLINE »

Source: In a Page: Signs and Symptoms, 2004

Fever – Cyclic: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

PFAPA, or Marshall syndrome
–Periodic fever (usually high, 104°F [40°C]), aphthous stomatitis, pharyngitis, and adenitis
–Most common diagnosis for true cyclic fever, usually in children <5 years
–Recurs every 3–4 weeks

Cyclic neutropenia
–Periodic fever, average cycle of 21 days
–Pharyngitis, mouth ulcers, and lymphadenopathy are also noted
–May not be associated with infection

Infectious diseases
–Relapsing fever due to Borrelia recurrentis,
relapses every 10–14 days
–EBV may occur at 6–8 week intervals

Familial Mediterranean fever
–Brief attacks of fever and serositis
–Autosomal recessive disease
–Sephardic Jews, Arabs, Turks, and Armenians commonly affected
–50% have onset before 10 years of age
–May occur in regular 7–28-day intervals
–Amyloidosis is a possible complication

Hyper-IgD and periodic fever syndrome (HIDS)
–High fevers, abdominal pain, cervical lymphadenopathy, sometimes diarrhea and arthritis, in early infancy
–Autosomal recessive, most patients from Western Europe (French, Dutch)
–Cycles may be regular every 14–28 days
- TNF-receptor-associated periodic syndrome (TRAPS) or Hibernian fever
  –Fever, myalgias with migratory pattern, conjunctivitis and rash
  –Autosomal dominant
  –first described in Irish/Scottish individuals but other ethnic groups involved
  –Amyloidosis is a possible complication (25% of untreated individuals)
- Factitious fever
Workup and Diagnosis
- History
  –Age of onset, duration of episodes, duration of symptom-free periods, associated symptoms (pharyngitis, aphthous ulcers)
  –Lymphadenopathy, abdominal pain
  –Family history of cyclic fever, ethnicity
  –Exposure to ticks (woods, camping), travel history
>

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Fever – Recurrent: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Repeated viral infections
–Most common cause of recurrent febrile episodes in childhood
–Start of day care or change of geographic location may be related

Urinary tract infection (UTI)
–May be self-limited but recur especially if underlying anomaly exists

Epstein-Barr virus (EBV)
–May present with recurrent febrile episodes due to one initial infection

Other specific viral syndromes
–Parvovirus B19
–CMV

Immunodeficiency
–Repeated bacterial infections should lead to investigation of immune status

Dental abscess (non-dental abscesses typically present with prolonged daily fever)
Chronic meningococcemia
Acute rheumatic fever
Inflammatory bowel disease (IBD)
Juvenile rheumatoid arthritis (JRA)
Behçet disease

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or Hibernian Fever
–Autosomal dominant disease with fever, myalgias with migratory pattern, conjunctivitis and rash

Familial cold autoinflammatory syndrome or familial cold urticaria
–Rash, fever, arthralgia, and conjunctivitis
–Precipitated by exposure to cold

Muckle-Wells syndrome
–Similar presentation to familial cold urticaria
–Symptoms not triggered by cold

Brucellosis
–Most prevalent around the Mediterranean and Arabic countries, also present in South America and India

Yersiniosis
Typhoid fever
Rat-bite fever
Malaria
Factitious fever

Workup and Diagnosis

History
–Documentation of fever
–Duration of episodes and fever-free intervals
–Symptoms associated with the fever
–Symptoms during the fever-free intervals
–Weight loss
–Recent documented infections, medications
–Travel, animal and insect exposure
–Specific conditions related to episodes (e.g., cold)

Physical exam
–Vitals, growth parameters (failure to thrive can be a presentation of UTI and immunodeficiency)
–Rash (transient pink rash in JRA)
–Ophthalmologic exam: Uveitis (IBD and Behçet), conjunctivitis (TRAPS)
–Hepatosplenomegaly, lymphadenopathy
–Genital ulcers (Behçet)
–Perianal skin tags (IBD)
–Mouth ulcers, pharyngitis
–Arthritis

CBC with differential
ESR or CRP
Urine culture
Blood culture
Serology for EBV, CMV, or Parvovirus B19
Low levels of serum type 1 TNF receptor in TRAPS
Documentation of fever in the office should exclude the possibility of factitious fever

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Fever – Unknown Origin: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Infections (40%)
–Infectious mononucleosis (EBV, CMV)
–Other systemic viral syndromes (e.g., HIV)
–UTI (e.g., E. coli)
–Osteomyelitis (e.g., staphylococcus)
–Upper and lower respiratory infections (sinusitis, mastoiditis, pneumonia)
–Cat-scratch disease (Bartonella henselae)
–Tuberculosis, nontuberculous mycobacterial infections
–Abscess (abdominal or retroperitoneal)
–CNS infections
–Endocarditis (subacute)
–Salmonellosis
–Lyme disease (Borrelia burgdorferi)
–Leptospirosis
–Congenital syphilis
–Others: Brucellosis, histoplasmosis, leishmaniasis, yersiniosis, Q fever (Coxiella burnetii), Rocky Mountain spotted fever (Rickettsia rickettsii)

Autoimmune diseases (15%)
–Rheumatoid arthritis accounts for 3/4 of FUO due to autoimmune diseases
–Systemic lupus erythematosus
–Rheumatic fever
–Vasculitis (e.g., HSP)
–Sarcoidosis

Neoplastic diseases (7%)
–Leukemia/lymphoma accounts for 80% of
FUO due to malignancies
–Neuroblastoma
–Hepatoma
–Soft tissue sarcoma

Inflammatory bowel disease (3%)
Drugs and nutritional supplements (drug fever)
Factitious fever
Munchausen by proxy
Neurologic disorders
–Familial dysautonomia
–Central thermoregulatory disorder
–Head injury
Hyperthyroidism
Anhidrotic ectodermal dysplasia
Diabetes insipidus
Kikuchi disease

Workup and Diagnosis

History
–Differentiate between FUO and multiple febrile
illnesses that occur in short period of time
–Daily documentation of fever, onset, duration
–Weight loss, diet history, medications, sick contacts
–Animal or tick exposure, travel, foreign contacts
–Immune status, history of transfusion, surgery
–FH of autoimmune or neoplastic diseases

Physical exam
–Vital signs, growth parameters
–Skin (rash, desquamation, jaundice)
–Ophthalmologic exam (conjunctivitis, uveitis)
–Oral lesions
–Cardiologic exam (new onset murmur)
–Abdominal exam (masses, hepatosplenomegaly)
–Testicular exam
–Muscle tenderness, bone tenderness, arthritis
–Lymphadenopathy
–Neurologic exam

Labs
–CBC, ESR, C-reactive protein
–Renal and hepatic function tests, albumin and globulin
–Urinalysis, blood and urine culture
–Viral titers, PPD, cultures for specific organisms, ASO, ANA, bone marrow

Radiographic imaging with plain films, ultrasound, bone scan, CT scan or MRI of specific organ systems as warranted by the history and physical exam

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Seizures – Childhood: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Febrile seizure
Cerebral dysgenesis: Disorders of neuronal migration, heterotopias, lissencephaly
Epilepsy syndromes
–Childhood absence
–Juvenile absence
–Juvenile myoclonic epilepsy (JME)
–Benign rolandic epilepsy (BRE)
Meningitis/encephalitis (e.g., HSV)
Cerebral abscess
Postinfectious (e.g., ADEM)
Hyponatremia
Hypernatremia
Hypocalcemia
Hypoglycemia
Toxins: Ingestions or sedative withdrawal
Trauma
Pyridoxine deficiency
Neoplasm
Degenerative
–Alpers disease
–Rett syndrome
–Unterricht-Lundborg disease
–Lafora disease
–Neuronal ceroid lipofuscinosis
Genetic
–Angelman syndrome
–Aicardi syndrome

Metabolic
–Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
–Myoclonus epilepsy and ragged-red fibers syndrome (MERRF)
–Sialidosis
–Glucose transporter deficiency
–Urea cycle defects

Vascular: Stroke, hemorrhage, vasculitis
Hashimoto encephalitis
Seizure mimics
–Breath-holding spells
–Syncope, convulsive syncope
–Gastroesophageal reflux
–Cardiac arrhythmia
–Movement disorder
–Migraine
–Benign paroxysmal vertigo
–Parasomnia
–Pseudo-seizure
–Rage attack

Workup and Diagnosis

History: Detailed description of the spell, loss of consciousness, eye deviation, time of onset, other suspicious spells (jerking, staring, day-dreaming), birth and developmental history, previous history of head trauma, encephalitis, febrile seizures, medications at home, recent infections
Physical exam: Dysmorphic features, skin rash, retinal exam for cherry-red spot, macular degeneration, hepatosplenomegaly, meningismus
Full neurologic examination: Postictal weakness can provide clues to the focus of seizures (Todd paralysis)
Labs: Glucose, electrolytes, calcium, toxicology screen, ammonia, lactate, pyruvate, genetic testing for specific disorders (MECP2 mutation for Rett, FISH on chromosome 15 for Angelman)
Lumbar puncture to rule out infection (including HSV PCR), glucose transporter deficiency

EEG can help make the diagnosis of focal vs generalized epilepsy
–Crucial for decisions of treatment choices

MRI can help determine any structural abnormalities, including cerebral dysgenesis, abscess, neoplasm, temporal lobe sclerosis
For other specific etiologies, one can follow up with skin biopsy, CSF amino acids, biotinidase level, TSH, anti-thyroglobulin antibodies, rheumatologic workup

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Seizures – Neonatal: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Hypoxic ishemic encephalopathy
Bacterial meningitis/sepsis
Stroke
Cerebral dysgenesis
Electrolyte disturbances
–Hypoglycemia
–Hyponatremia
–Hypomagnesemia
–Hypocalcemia
Maternal drug use
–Drug withdrawal after delivery
–Direct effect of drugs, such as cocaine
Congenital infections (TORCH)
–Toxoplasmosis
–Syphilis
–Rubella
–CMV
–HSV
HSV encephalitis

Intracranial hemorrhage
–Subdural hemorrhage
–Intraparenchymal hemorrhage
–Intraventricular hemorrhage in the premature infant
–Subarachnoid hemorrhage

Urea cycle disturbances
Smith-Lemli-Opitz syndrome
Nonketotic hyperglycinemia
Pyridoxine deficiency
Fructose dysmetabolism
Amino acidurias
–Maple syrup urine disease
–Proprionic acidemia
Molybdenum cofactor deficiency
Mitochondrial encephalopathy
Glucose transporter deficiency

Benign etiologies
–Benign idiopathic neonatal seizures (fifth day fits)
–Benign familial neonatal seizures

Movements commonly mistaken for seizures
–Benign neonatal sleep myoclonus
–Jitteriness (may be secondary to hypoglycemia, drug withdrawal, or idiopathic)
–Gastroesophageal reflux (arching, writhing)
–Breath-holding spell

Workup and Diagnosis

History: Previous pregnancies, fetal movements, infections, blood pressure problems during pregnancy, maternal drug/medication use, family history, Apgar scores, nuchal cord, birth weight, feeding problems, association of the spells to feeding and sleep

Physical exam
–Deformities, dermatoglyphics, skin lesions, hepatosplenomegaly, funduscopic exam, corneal opacities
–Mental status: Spontaneous level of activity of the infant; responsiveness to light, sound, and touch
–Muscle tone: Passive manipulation of limbs
–Primary neonatal reflexes (Moro, palmar grasp, tonic neck response) and muscle stretch reflexes

Labs: Glucose, electrolytes, lactate, liver function tests, ammonia, TORCH titers, pyruvate, chromosomes, 17-hydroxycorticosteroid, serum amino acids, copper
Neuroimaging: CT or MRI
Lumbar puncture for meningitis and encephalitis, including HSV, glucose transporter deficiency, nonketotic hyperglycinemia
EEG: Critical in making the diagnosis of seizures in the newborn; monitoring of the child during one of the spells is the best way to make the diagnosis of seizures
If gastroesophageal reflux is suspected, pH/thermistor monitoring is helpful to document a temporal relation

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Fever – Acute: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Viral infections
–Account for the majority of febrile illnesses (FI) in infancy and childhood
–Upper respiratory infections (e.g., parainfluenza virus)
–Lower respiratory infections (e.g., RSV)
–Non-bacterial gastroenteritis (e.g., rotavirus)
–Aseptic meningitis (e.g., enterovirus)

Bacterial infections
–UTIs account for 1.7% of FI in children 5 years and 7.5% in infants <8 weeks
–Pneumonia (e.g., group A streptococcus)
–Bacteremia (2% of FI in all children, highest rates seen in younger infants)
–Meningitis (0.8% of FI in all children)
–In febrile neonates, the overall rate of serious bacterial infections (SBI) is ~13%
Vaccine reaction
- Collagen vascular diseases
  –Kawasaki disease: 3,000 cases per year in the U.S., rates higher in Asia, 80% of cases occur in children <5 years
  –Henoch-Schönlein purpura: Low-grade fever is present in 50% of cases
  –Juvenile rheumatoid arthritis: Incidence 1/10,000
  –SLE
  –Acute rheumatic fever
- Malignancy
  –Leukemia: Most common childhood malignancy; early symptoms include fever, fatigue, pallor, anemia, bone pain
  –Lymphoma
  –Solid tumors (neuroblastoma, sarcoma)
- Inflammatory bowel disease
  –Diarrhea, pain, fever, blood loss
  –Crohn disease, ulcerative colitis
- Tissue injury (trauma, hematoma, burns)
- Drug reaction
- Biologic agents (blood products, gamma-globulin)
- Endocrinologic disorders
  –Thyrotoxicosis
  –Pheochromocytoma
- Genetic diseases
  –Familial Mediterranean fever
- Factitious fever
Workup and Diagnosis
- Physical exam
  –Temperature: Rectal preferred for infants <3 months
  –Vitals: Relative brady- or tachycardia, tachypnea
  –Growth parameters especially if frequent febrile episodes/infections (immunodeficiency)
  –Appearance, irritability, quality of cry, consolability
  –Skin (color, rash, desquamation), conjunctivitis, ocular or nasal discharge, mouth lesions, throat and ear exam
  –Lymphadenopathy, abdominal exam, neuro exam
  –Joint exam (arthritis), muscle tenderness
  - Immunologic workup and/or bone marrow for prolonged fever and/or other clinical evidence
  >>>>

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Source: In A Page: Pediatric Signs and Symptoms, 2007

FASCICULATIONS: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

Deciding on the cause of fasciculations will usually be based on other neurologic symptoms and signs. Muscular atrophy without sensory changes suggests progressive muscular atrophy, whereas atrophy and fasciculations with sensory changes suggest syringomyelia, peripheral neuropathy, and root compression (e.g., a herniated disc). Treatable neurologic disorders should be considered first. Thus, x-rays of the spine, spinal fluid analysis, and MRI should be performed to rule out a space-occupying lesion. EMG is useful in detecting which level is involved and in following the progress of the disease. Serum electrolytes, calcium, phosphorus, and magnesium levels are useful in selected disorders.

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Source: Differential Diagnosis in Primary Care, 2007

FEVER: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

There are certain things to remember when a patient with fever is approached. First, a mild elevation up to 100.5°F (38°C) rectally may be normal in some people. Second, one should rule out malingering by the patient or incorrect recording by hospital personnel. Finally, psychogenic disorders must be ruled out.

The duration and severity of the fever are important. If possible, a careful chart of the fever should be made with the patient off all drugs (especially aspirin and steroids). Conditions with intermittent or relapsing fever such as brucellosis, malaria, and Mediterranean fever will be elucidated in this fashion (Table 28).

The association with other symptoms is important. Fever, right upper quadrant pain, and jaundice suggest cholecystitis or cholangitis, whereas fever with right-sided flank pain suggests pyelonephritis. After taking a few moments to jot down the differential before launching into the history and physical examination, one can question and examine the patient more appropriately. The differential diagnosis will also lead to more appropriate use of laboratory testing.

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Source: Differential Diagnosis in Primary Care, 2007

TREMOR AND OTHER INVOLUNTARY MOVEMENTS: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The workup of tremor and other involuntary movements involves most of all a good history. The neurologic exam is important as it will determine the type of tremor. Rapid fine tremors (8–20/s) are suggestive of hyperthyroidism and emotional disorders. Coarser tremors at rest suggest parkinsonism, whereas a flapping tremor of 4 to 8 per second suggests Wilson disease. The association of other neurologic signs helps pin down the diagnosis. Spasms of pain suggest a thalamic syndrome, whereas ataxia suggests Friedreich ataxia and loss of memory suggests manganese toxicity. Laboratory tests will be useful in selected cases. Blood lead, manganese, copper, and ceruloplasmin levels may be necessary. A T3, T4, and FT4 index will confirm the diagnosis of Graves disease. Other tests that may be helpful may be found in the Appendix or listed below.

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Source: Differential Diagnosis in Primary Care, 2007

CONVULSIONS: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

Next, a careful history from the immediate family or friend is important. Be sure to ask about previous head trauma (including birth trauma), anoxia, meningitis, or encephalitis. Inquiry into drug or alcohol abuse is essential.

A thorough neurologic examination is a must. If the clinician is too busy or not equipped to do this, referral to a neurologist is done at this point. If there are focal neurologic signs or papilledema, there is a strong chance the patient has a space-occupying lesion such as tumor, subdural hematoma, or abscess and will need a neurologist anyway.

The clinical picture will help determine the cause of the seizures. If there is alcohol or drug use, toxic encephalopathy is suspected. If there is fever, meningitis or encephalitis must be considered in the differential. If there is a heart murmur or irregular heart beat, cerebral embolism should be suspected. A history of trauma suggests posttraumatic epilepsy. A history of optic neuritis makes one suspicious of multiple sclerosis. A history of high-risk sexual behavior suggests AIDS may be the cause. A history of cancer makes it important to rule out cerebral metastasis.

The initial workup should include a CBC, urinalysis, sedimentation rate, ANA, VDRL test, chemistry panel, drug screen, wake-and-sleep EEG, and skull x-ray. Patients with suspected grand mal epilepsy or focal motor seizures need either a CT scan or MRI to rule out a space-occupying lesion. This is true of all patients with complex partial seizures as well.

Patients suspected of having meningitis or encephalitis need a spinal tap. Patients with possible cerebral embolism need an ECG, echocardiogram, blood cultures, and a cardiology consult. If AIDS is suspected, an HIV antibody titer is ordered. Patients with possible multiple sclerosis need a spinal fluid analysis, and visual, somatosensory or brain stem evoked potential studies. Elderly patients should have a chest x-ray to exclude a primary tumor of the lung.

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Source: Differential Diagnosis in Primary Care, 2007

Fasciculations: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

If the patient isn’t in severe distress, find out if he has experienced sensory changes, such as paresthesia, or any difficulty speaking, swallowing, breathing, or controlling bowel or bladder function. Ask him if he’s in pain.

Explore the patient’s medical history for neurologic disorders, cancer, and recent infections. Also, ask him about his lifestyle, especially stress at home, on the job, or at school.

Ask the patient about his dietary habits and for a recall of his food and fluid intake in the recent past because electrolyte imbalances may also cause muscle twitching.

Perform a physical examination, looking for fasciculations while the affected muscle is at rest. Observe and test for motor and sensory abnormalities, particularly muscle atrophy and weakness, and decreased deep tendon reflexes. If you note these signs and symptoms, suspect motor neuron disease, and perform a comprehensive neurologic examination.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Fever: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

If the patient’s fever is only mild to moderate, ask him when it began and how high his temperature reached. Did the fever disappear, only to reappear later? Did he experience other symptoms, such as chills, fatigue, or pain?

Obtain a complete medical history, noting especially immunosuppressive treatments or disorders, infection, trauma, surgery, diagnostic testing, and the use of anesthesia or other medications. Ask about recent travel because certain diseases are endemic.

Let the history findings direct your physical examination. Because a fever can accompany diverse disorders, the examination may range from a brief evaluation of one body system to a comprehensive review of all systems. (SeeHow fever develops.)

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Level of consciousness, decreased: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

Try to obtain history information from the patient, if he’s lucid, and from his family. Did the patient complain of a headache, dizziness, nausea, vision or hearing disturbances, weakness, fatigue, or other problems before his LOC decreased? Has his family noticed changes in the patient’s behavior, personality, memory, or temperament? Also ask about a history of neurologic disease, cancer, or recent trauma or infections; drug and alcohol use; and the development of other signs and symptoms.

Because a decreased LOC can result from a disorder affecting virtually any body system, tailor the remainder of your evaluation according to the patient’s associated symptoms.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Myoclonus: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

If the patient is stable, evaluate his level of consciousness (LOC) and mental status. Ask about the frequency, severity, location, and circumstances of myoclonus. Has he ever had a seizure? If so, did myoclonus precede it? Is myoclonus ever precipitated by a sensory stimulus? During the physical examination, check for muscle rigidity and wasting, and test deep tendon reflexes.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, absence: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

If you suspect a patient is having an absence seizure, evaluate its occurrence and duration by reciting a series of numbers and then asking him to repeat them after the attack ends. If the patient has had an absence seizure, he can’t do this. Alternatively, if the seizures are occurring within minutes of each other, ask the patient to count for about 5 minutes. He’ll stop counting during a seizure and resume when it’s over. Look for accompanying automatisms. Find out if the family has noticed a change in behavior or deteriorating schoolwork.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, complex partial: History
(Handbook of Signs & Symptoms (Third Edition))

If you witness a complex partial seizure, never attempt to restrain the patient. Instead, lead him gently to a safe area. (Exception: Don’t approach him if he’s angry or violent.) Calmly encourage him to sit down, and remain with him until he’s fully alert. After the seizure, ask him if he experienced an aura. Record all observations and findings.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, generalized tonic-clonic: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

If you didn’t witness the seizure, obtain a description from the patient’s companion. Ask when the seizure started and how long it lasted. Did the patient report unusual sensations before the seizure began? Did the seizure start in one area of the body and spread, or did it affect the entire body right away? Did the patient fall on a hard surface? Did his eyes or head turn? Did he turn blue? Did he lose bladder control? Did he have other seizures before recovering?

If the patient may have sustained a head injury, observe him closely for loss of consciousness, unequal or nonreactive pupils, and focal neurologic signs. Does he complain of a headache and muscle soreness? Is he increasingly difficult to arouse when you check on him at 20-minute intervals? Examine his arms, legs, and face (including tongue) for injury, residual paralysis, or limb weakness.

Next, obtain a history. Has the patient ever had generalized or focal seizures before? If so, do they occur frequently? Do other family members also have them? Is the patient receiving drug therapy? Is he compliant? Also, ask about sleep deprivation and emotional or physical stress at the time the seizure occurred.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, simple partial: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

Make sure to record the patient’s seizure activity in detail; your data may be critical in locating the lesion in the brain. Does the patient turn his head and eyes? If so, to what side? Where does movement first start? Does it spread? Because a partial seizure may become generalized, you’ll need to watch closely for loss of consciousness, bilateral tonicity and clonicity, cyanosis, tongue biting, and urinary incontinence. (See “Seizures, generalized tonic-clonic,” page 554.)

After the seizure, ask the patient to describe exactly what he remembers, if anything, about the seizure. Check the patient’s LOC, and test for residual deficits (such as weakness in the involved extremity) and sensory disturbances.

Then obtain a history. Ask the patient what happened before the seizure. Can he describe an aura or did he recognize its onset? If so, how — by a smell, a visual disturbance, or a sound or visceral phenomenon such as an unusual sensation in his stomach? How does this seizure compare with others he has had?

Also, explore fully any history — recent or remote — of head trauma. Check for a history of stroke or recent infection, especially with a fever, headache, or stiff neck.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Colorado tick fever: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

CONFIRMING DIAGNOSIS A history of recent exposure to ticks along with moderate to severe leukopenia, complement fixation tests, or virus isolation confirm the diagnosis.

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Source: Professional Guide to Diseases (Eighth Edition), 2005

Lassa fever: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

CONFIRMING DIAGNOSIS Isolation of the Lassa virus from throat washings, pleural fluid, or blood confirms the diagnosis.

Recent travel to an endemic area and specific antibody titer support the diagnosis.

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Source: Professional Guide to Diseases (Eighth Edition), 2005

Relapsing fever: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

CONFIRMING DIAGNOSIS Diagnosis requires demonstration of the spirochetes in peripheral blood smears during febrile periods, using Wright's or Giemsa stain.

Borrelia spirochetes may be more difficult to detect in later relapses because their number declines in the blood. In such cases, injecting the patient's blood or tissue into a young rat and incubating the organism in the rat’s blood for 1 to 10 days commonly allows spirochete identification.

In severe infection, spirochetes are found in the urine and cerebrospinal fluid. Other abnormal laboratory results usually include a white blood cell (WBC) count as high as 25,000/µl, with increases in lymphocytes and erythrocyte sedimentation rate; however, the WBC count may be normal. Because the Borrelia organism is a spirochete, relapsing fever may cause a false-positive test for syphilis in 5% to 10% of cases.

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Source: Professional Guide to Diseases (Eighth Edition), 2005

Rheumatic fever and rheumatic heart disease: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Diagnosis depends on recognition of one or more of the classic symptoms (carditis, rheumatic fever without carditis, polyarthritis, chorea, erythema marginatum, or subcutaneous nodules) and a detailed patient history. Laboratory data support the diagnosis:

❑ White blood cell count and erythrocyte sedimentation rate may be elevated (during the acute phase); blood studies show slight anemia due to suppressed erythropoiesis during inflammation.

❑ C-reactive protein is positive (especially during acute phase).

❑ Cardiac enzyme levels may be increased in severe carditis.

❑ Antistreptolysin-O titer is elevated in 95% of patients within 2 months of onset.

❑ Electrocardiogram changes aren’t diagnostic; but PR interval is prolonged in 20% of patients.

❑ Chest X-rays show normal heart size (except with myocarditis, heart failure, or pericardial effusion).

❑ Echocardiography helps evaluate valvular damage, chamber size, and ventricular function.

❑ Cardiac catheterization evaluates valvular damage and left ventricular function in severe cardiac dysfunction.

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Source: Professional Guide to Diseases (Eighth Edition), 2005

Rocky Mountain spotted fever: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

CONFIRMING DIAGNOSIS Diagnosis is usually based on a history of tick bite or travel to a tick-infested area and a positive complement fixation test (which shows a fourfold increase in convalescent antibody titer compared with acute titers). Blood cultures or skin biopsy at the rash site should be performed to isolate the organism and confirm the diagnosis.

Another common but less reliable antibody test is the Weil-Felix reaction, which also shows a fourfold increase between the acute and convalescent sera titer levels. Increased titers usually develop after 10 to 14 days and persist for several months.

Additional recommended laboratory tests consist of a platelet count for thrombocytopenia (12,000 to 150,000/µl) and a white blood cell count (elevated to 11,000 to 33,000/µl) during the second week of illness.

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Source: Professional Guide to Diseases (Eighth Edition), 2005

Fasciculations: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

If the patient isn’t in severe distress, find out if he has experienced any sensory changes, such as paresthesia, or any difficulty speaking, swallowing, breathing, or controlling bowel or bladder function. Ask him if he’s in pain.

Explore the patient’s medical history for neurologic disorders, cancer, and recent infections. Also, ask him about his lifestyle, especially stress at home, on the job, or at school.

Ask the patient about his dietary habits and for a recall of his food and fluid intake in the recent past because electrolyte imbalances may also cause muscle twitching.

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