Diseases » Refsum Disease » Diagnosis

Diagnosis of Refsum Disease

Refsum Disease Diagnosis: Book Excerpts

• Ask the following questions - ATAXIA
• Ask the Following Questions - SENSORY LOSS
• Differential Diagnosis - Ataxia
• Differential Diagnosis - Ataxia
• History and physical examination - Ataxia
• History and physical examination - Ataxia
• History - Ataxia
• Differential Overview - Ataxia
• Differential Overview - Peripheral Neuropathy
• History - Ataxia
• History - Ataxia
• Clinical Features and Diagnosis - Ataxia
• History and physical examination - Ataxia
• Approach to the Diagnosis - SENSORY LOSS

Diagnostic Tests for Refsum Disease: Online Medical Books

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

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

1. Is there vertigo, tinnitus, or deafness? Any one of these three signs and symptoms should suggest Ménière's disease or other labyrinthine disease as well as eighth nerve pathology.
2. Are there headaches, nystagmus, or papilledema? These signs should suggest a cerebellar tumor or acoustic neuroma.
3. Are there other neurologic signs? If there are long tract signs such as hyperactive reflexes and loss of vibratory or position sense, one should consider multiple sclerosis, pernicious anemia, or basilar artery insufficiency. If there are glove and stocking hypoesthesia and hypoactive reflexes, one should consider peripheral neuropathy or tabes dorsalis.
4. Is the ataxia worse in the dark? This is a sign that the dorsal column or peripheral nerve is affected, and one should look for peripheral neuropathy, pernicious anemia, multiple sclerosis, and Friedreich's ataxia. One should also look for tabes dorsalis.
5. Is there a secondary gain? Hysterical patients and patients who are malingering will often show a completely normal neurologic examination, but be unable to walk or stand without staggering. The author has been particularly impressed with patients applying for long-term disability who stagger a great deal without support, but as soon as support in the form of a cane is given, their ataxia completely clears up.

DIAGNOSTIC WORKUP

The wise clinician should consider a neurologic referral at the outset. If there is vertigo, tinnitus, or deafness, then an audiogram and caloric testing should be done. If these suggest eighth nerve damage, then a CT scan or MRI of the brain should be done. Headaches, sustained nystagmus, or papilledema are other indications for a CT scan or MRI. If multiple sclerosis is suspected, MRI of the brain is very useful, as well as spinal fluid for gamma globulin and myelin basic protein. Perhaps VEP, brain stem evoked potential (BSEP), or SSEP studies should be done. If vascular disease is suspected, magnetic resonance angiography will allow assessment of the vertebral-basilar arteries. If this is not available, four-vessel cerebral angiography may be utilized. Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup . When there is ataxia in the presence of a normal neurologic examination, referral to a psychologist for psychometric testing should be done.

 

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

SENSORY LOSS: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. Is it intermittent? The presence of intermittent sensory changes would suggest a transient ischemic attack, migraine, and epilepsy.
2. Is there loss of vibratory and position sense only? The finding of loss of vibratory and position sense only, particularly if it involves all four extremities, would suggest pernicious anemia. If the loss of vibratory and position sense is on one side of the body only, a parietal lobe tumor should be suspected. Diffuse loss of vibratory and position sense only may also be seen in multiple sclerosis, cervical spondylosis, and Friedreich's ataxia.
3. Is there loss of pain or temperature only? The presence of loss of pain and temperature on one side of the body is more likely to occur with posterior inferior cerebellar artery occlusions. Rarely, syringomyelia may cause loss of pain and temperature only in the lower extremities if the syringomyelia is in the thoracic cord and in the upper extremities if it is in the cervical cord. Anterior spinal artery occlusions may cause loss of pain and temperature in the lower extremities. Multiple sclerosis can occasionally cause loss of pain and temperature in a diffuse manner.
4. Is there loss of all modalities together? If all modalities are lost together on one-half of the body, one should consider thalamic syndrome due to vascular occlusion of the thalamogeniculate artery or its branches. Loss of all modalities in the lower extremities and up to a certain sensory level would probably be due to spinal cord trauma, a space-occupying lesion, or transverse myelitis. However, this condition can also be seen with multiple sclerosis. Loss of all modalities together in the upper extremity may be found in brachial plexus neuropathy or injuries. It may be found with malingering as well. Loss of all modalities in a glove and stocking distribution would suggest peripheral neuropathy. Loss of all modalities in a dermatomal distribution would suggest radiculopathy due to herniated disk, tumor, or arthritic spurs. Platybasia and foramen magnum tumors may cause selective loss of vibratory and position sense in one or more extremities or loss of sensation to all modalities in one or more extremities.

DIAGNOSTIC WORKUP

Routine diagnostic studies include a CBC, sedimentation rate, urinalysis, chemistry panel, ANA, serum protein electrophoresis, VDRL test, chest x-ray, and x-ray of the spine. Findings of a clear-cut sensory loss are a good reason to consult a neurologist at this point. When one is not available, further workup depends on what part of the body is affected.

If only the lower extremities are involved, a CT scan or MRI of the lumbar or thoracic spine may be done. EMG and nerve conduction velocity studies of the lower extremities will complement the diagnostic evaluation.

If the upper and lower extremities both are involved, an MRI of the cervical spine would be the best procedure to perform. A CT scan of the cervical spine is not nearly as precise. EMG examination of the upper and possibly the lower extremities should be done in these cases. Nerve conduction velocity studies may need to be done also.

If the face is involved along with the extremities, a CT scan or MRI of the brain should be done. Skull x-rays are not very useful unless a fracture of the skull is suspected.

Carotid scans and four-vessel angiography are very useful in evaluating cerebral vascular disease. If peripheral neuropathy is suspected, a neuropathy workup should be done. If multiple sclerosis is suspected, a spinal tap and SSEP or VEP studies will assist in the diagnosis. A spinal tap will also be useful in diagnosing central nervous system lues. If pernicious anemia is suspected, a serum B ₁₂ and folic acid and possibly a Schilling test should be done. Guillain-Barré syndrome is diagnosed by a spinal fluid examination, which will show a markedly elevated spinal fluid protein in the face of a normal cell count.

Entrapment syndromes, such as carpal tunnel syndrome, ulnar nerve entrapment, or tarsal tunnel syndrome, are diagnosed by nerve conduction velocity studies.

A wake-and-sleep EEG may diagnose complex partial seizures or parietal lobe seizures. Sometimes, combined myelography and CT scan are better than MRI studies in selected cases.

 

 

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

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

• Orthopedic issues affecting the foot, ankle, leg, knee, or hip

• Peripheral neuropathy (sensory and/or motor)
  –Slapping gait: Sensory neuropathies may result in a tendency to slap the feet firmly against the ground to improve proprioceptive input
  –Steppage gait: Seen in patients with foot drop
  –The classic tabetic gait combines both stepping and slapping gaits
• Mononeuropathy/radiculopathy affecting the lower extremities may result in gait abnormalities (e.g., either a peroneal neuropathy or L5 radiculopathy can cause a unilateral steppage gait)
• Myelopathy
  –Patients with bilateral lower extremity weakness and hypertonicity secondary to a spinal cord lesion may exhibit a spastic gait with stiffness of both legs and a tendency toward scissoring of the legs with walking
• Brainstem or cortical lesions (e.g., multiple sclerosis, CVA)
  –Most commonly result in a hemiparetic gait with circumduction of the weak leg
• Cerebellar lesions
  –Result in an ataxic gait, which tends to be wide-based, irregular, and staggering
• Intoxications
• Parkinsonism
  –Patients exhibit stooped posture, decreased arm swing, and shuffling (take many small steps)
• Myopathies
  –Tend to produce a waddling gait because of weakness of the trunk, hip, and proximal lower extremity muscles
• Spinocerebellar ataxia
• Hereditary spastic paraparesis
• Hysterical gaits
• Inherited neuropathies (e.g., Charcot-Marie-Tooth disease)
• GALOP syndrome (gait disorder, autoantibodies, late age onset, polyneuropathy)
• Normal pressure hydrocephalus
• Infection (e.g., neurosyphillis, meningitis)
• Vitamin B₁₂ or thiamine deficiency

Workup and Diagnosis

• History and physical examination
  –Note history of injury, intoxication, and the events leading to onset of gait problems
  –Careful attention should be given not only to the type of gait disturbance, but also to associated findings on neurologic exam (e.g., symmetric distal sensory loss and hyporeflexia suggest a peripheral neuropathy; circumducting gait with hemiparesis, hemisensory loss, and ipsilateral hyperreflexia suggest a cerebral lesion)
• Orthopedic imaging and consult may be indicated, especially if localized lower extremity pain is prominent
• Neuroimaging (CT/MRI) may be indicated
• EMG/nerve conduction studies may help diagnose neuropathy or myopathy
• Labs may include CBC, chemistries, RPR, vitamin B₁₂ and folate levels, ESR, and other lab evaluation for neuropathy, if appropriate
• Drug screen or alcohol levels if intoxication suggested
• Anticonvulsant levels (especially phenytoin)
• Genetic testing: DNA testing is available for inherited neuropathies (e.g., CMT 1A, many of the SCAs)
• If the etiology of a gait abnormality is uncertain, a full gait analysis by a specially trained physical therapist, podiatrist, orthopedic surgeon, or neurologist is often indicated

» READ BOOK EXCERPT ONLINE »

Source: In a Page: Signs and Symptoms, 2004

Ataxia: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Infectious
  –Postinfectious cerebellitis: Due to varicella, EBV, mumps, Legionella, hepatitis A
  –Encephalitis, acute disseminated encephalomyelitis (ADEM)
  –Cerebellar abscess
  –Labyrinthitis
• Toxic/metabolic encephalopathy
  –Phenytoin, carbamazepine, antihistamines, sedatives, and ethanol
• Posterior fossa tumor
  –Medulloblastoma, glioma
• Opsoclonus/myoclonus syndrome: May be postinfectious or paraneoplastic (reaction most likely to neuroblastoma)
• Friedreich ataxia: Absent DTRs, positive Babinski sign, proprioceptive sensory loss, dysarthria, cardiomyopathy, diabetes
• Ataxia-telangiectasia
• Miller-Fisher variant of Guillain-Barré syndrome, with areflexia, ophthalmoparesis
• Basilar migraine
• Postconcusssion
• Seizure
• Arnold-Chiari, Dandy-Walker malformation
• Cerebellar hemorrhage or ischemia
• Multiple sclerosis
• Vitamin E (AVED), biotinidase deficiency
• Metabolic disorders
  –Urea cycle disorders
  –Organic acidurias (maple syrup urine disease)
  –Carbohydrate-deficient glycoprotein syndrome
• Sphingolipidoses (GM2, Niemann-Pick type C, metachromatic leukodystrophy, Krabbe disease)
• Neuronal ceroid-lipofuscinosis
• Mitochondrial disease
  –NARP, MERRF, Kearns-Sayre syndrome
• Spinocerebellar ataxias (SCA)
• Hartnup disease
• Refsum disease
• Episodic ataxia type I/II (channelopathy)
• Celiac disease
  –Have cerebellar calcification
• Conversion disorder

Workup and Diagnosis

• History: Acute vs chronic, progression, episodicity, recent illness (especially varicella), ingestion of toxins or drugs, trauma, previous episode of ataxia, headaches, gait disturbance, family history of migraine or spinocerebellar ataxias
• Physical exam
  –Skin (telangiectasias), ear, sinus examination
  –Cardiac exam, abdominal masses (for neuroblastoma)
  –Neurologic exam: Cranial nerve and cerebellar examinations, papilledema, extraocular eye movements and nystagmus, DTRs, Babinski sign, proprioceptive sense, Romberg sign
• Labs
  –Toxicology screen
  –LP (only after neuroimaging) for infection/GBS/MS
  –HVA, VMA levels (for neuroblastoma)
  –Thoracic and abdominal MRI for neuroblastoma
  –EEG for seizures
• Metabolic testing: Serum amino acids, vitamin E, cholesterol and subtypes, lactate, pyruvate, ammonia, α - feto protein (for ataxia telangiectasia), lysosomal enzymes, transferrin eletrophoresis
  –Electromicroscopy of lymphocytes for inclusion bodies
  –Muscle biopsy for mitochondrial disease
  • Genetic testing for Friedreich ataxia and SCA
  • Imaging: CT or MRI for mass lesion or demyelination
    –MRI is superior to CT for detection of posterior fossa

» READ BOOK EXCERPT ONLINE »

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

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

If the patient isn’t in distress, review his history. Ask about multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, and a family history of ataxia. Also, ask about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury. Find out if the patient’s ataxia developed suddenly or gradually.

If necessary, perform Romberg’s test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his side. Note his posture and balance, first with his eyes open, and then closed. Test results may indicate normal posture and balance (minimal swaying), cerebellar ataxia (swaying and inability to maintain balance with eyes open or closed), or sensory ataxia (increased swaying and inability to maintain balance with eyes closed). Stand close to the patient during this test to prevent his falling.

If you test for gait and limb ataxia, be aware that motor weakness may mimic ataxic movements, so check motor strength as well. Gait ataxia may be severe, even when limb ataxia is minimal. With gait ataxia, ask the patient if he tends to fall to one side, or if falling occurs more frequently at night. With truncal ataxia, remember that the patient’s inability to walk or stand, combined with the absence of other signs while he’s lying down, may give the impression of hysteria or drug or alcohol intoxication.

» READ BOOK EXCERPT ONLINE »

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

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

If the patient isn’t in distress, review his history. Ask about multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, and a family history of ataxia. Also ask about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury. Find out if the ataxia developed suddenly or gradually.

If necessary, perform Romberg’s test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his side. Note his posture and balance, first with his eyes open and then with them closed. Test results may indicate normal posture and balance (minimal swaying), cerebellar ataxia (swaying and inability to maintain balance with eyes open or closed), or sensory ataxia (increased swaying and inability to maintain balance with eyes closed). Stand close to the patient during this test to prevent his falling.

If you test for gait and limb ataxia, be aware that motor weakness may mimic ataxic movements, so check motor strength, too. Gait ataxia may be severe, even when limb ataxia is minimal. Ask the patient with gait ataxia if he tends to fall to one side and if he falls more at night. With truncal ataxia, remember that the patient’s inability to walk or stand, combined with the absence of other signs while he’s lying down, may give the impression of hysteria or drug or alcohol intoxication.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

Ataxia: History
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

A. Characteristics of gait and coordination. Disorders of gait and coordination are common, and many abnormal types of gait can suggest ataxia.

1. Parkinson’s disease (and other extrapyramidal syndromes) is characterized by a shuffling gait, deficiencies in movement initiation, en bloc movements, and bradykinesia. Normal pressure hydrocephalus and frontal lobe processes (gait apraxias) incorporate some of these features.

2. Hemiparetic and paraparetic gait are seen with unilateral and diffuse spasticity.

3. Motor neuropathies and myopathies interfere with the ability to walk through the limitation of muscular strength.

4. Hysterical gait is typified by a dramatic gait; the patient frequently lurching from point to point, swaying at the waist, and having more normal coordination in supine (astasia-abasia) and nonambulatory tasks.

5. Other neurologic processes (vertigo, myoclonic jerks, petit mal seizures, chorea) can either imitate or coexist with ataxia. Some elderly individuals adapt a wide-based gait because of the fear of repeating a fall, whereas a benign senile gait is also common.

B. Chronology of ataxia. The course of symptoms is valuable in the differential diagnosis of ataxia.

 1. Acute ataxia can have infectious, neoplastic, toxic, and traumatic causes.

 2. Chronic ataxia can be progressive, nonprogressive and persistent, or intermittent.

a. Chronic progressive ataxia is suggestive of toxins (lead), degenerative diseases, neoplasm, and some metabolic diseases.

 b. Chronic nonprogressive ataxia can be seen with brain malformation (Dandy-Walker syndrome, Arnold-Chiari syndrome), cerebral palsy, and residual damage of past insults (severe hypothermia, hypoglycemia, trauma, infection, toxin).

 c. Intermittent ataxia occurs with some hereditary and metabolic syndromes, migraine, and seizures.

 C. Other history. Obtain family history, and history of toxin ingestion [lead, thallium, mercury, acrylamide, toluene, and polychlorinated phencyclidine (PCP)], trauma, cancer, and recent infection. The exanthemas are associated with postinfectious ataxia, and varicella is especially associated with a truncal postinfectious cerebellitis. Drugs frequently causing ataxia include anticonvulsants (phenytoin, carbamazepine, and primidone), benzodiazepines, and antineoplastics. Lithium can cause ataxia even with therapeutic serum levels. Alcohol can cause acute Wernicke’s encephalopathy or a more chronic or subacute cerebellar degeneration (1–3).

Physical examination

A. Neurologic examination. Evaluate for dysmetria (finger-nose difficulty), saccadic eye movements (differentiated from nystagmus by multidirectionality), titubation (head bobbing), truncal swaying, and dysdiadochokinesia (difficulty with rapid alternating movements). Observe speech patterns (wandering pitch, volume). The typical ataxic gait is wide based. Cerebellar ataxia can be differentiated from sensory ataxia or poor proprioception by Romberg’s sign, where the removal of visual input dramatically reduces compensatory ability in sensory ataxia. Unilateral symptoms suggest a focal cerebellar insult (stroke, arteriovenous malformation, tumor), and deviation occurs ipsilateral to the lesion.

B. Associated symptoms can reveal specific processes. An older child with intermittent ataxia from basilar migraine, for example, will have a normal neurologic examination, whereas a child with hereditary periodic ataxia can present with nystagmus and more mild symptoms (1). Ataxia can precede the characteristic lesions of ataxia-telangiectasia, which tend to appear around 5 years of age. Opsomyoclonus warrants a search for neuroblastoma. The photosensitive rash of Hartnup’s disease and the specific findings of maple syrup urine disease can assist in diagnosis. Look for signs and symptoms of hypothyroidism (Chapter 14.4). Pes cavus and scoliosis are associated with Friedreich’s ataxia.

» READ BOOK EXCERPT ONLINE »

Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

Ataxia: Differential Overview
(Field Guide to Bedside Diagnosis)

Chronic

❑ Vitamin B₁₂ deficiency

❑ Parkinsonism

❑ Myopathy

❑ Cervical spondylosis

❑ Multiple sclerosis

❑ Multiple subcortical strokes

❑ Alcoholic cerebellar degeneration

❑ Hydrocephalus

❑ Frontal lobe tumor

❑ Cerebellar tumor

❑ Spinocerebellar degeneration

❑ Syringomyelia

❑ Tabes dorsalis

❑ Chorea

Acute

❑ Alcohol intoxication

❑ Labyrinthitis

❑ Cerebellar hemorrhage

❑ Cerebellar infarct

❑ Guillain-Barré syndrome

❑ Hysterical

❑ Parietal apraxia

Diagnostic Approach

Hemiparetic gait, a stroke residua, results from abduction/circumduction of the leg with a contralateral tilt of the body. Paraparetic gait, found with spinal cord disease or cerebral palsy, is marked by “scissoring,” or crossing with each step. A steppage gait, seen with peroneal neuropathy, has a foot drop with a high step to avoid toe dragging, and the foot slaps down. With a waddling gait, in proximal leg weakness such as myopathy, the leg is lifted high, and the trunk leans opposite. A Parkinsonian gait has a forward stoop with flexion of the hips, knees, and elbows and short shuffling steps, which accelerate. An apraxic gait, with bilateral frontal lobe disease, is shuffling, but the gait is hesitant and not maintained. A cerebellar/ataxic gait is broad-based and irregular. A sensory/ataxic gait is broadly based with a positive Romberg. With a vestibular gait, the patient falls to one side whether walking or standing. With hysterical gait, there is normal leg coordination while sitting but dramatic falls when standing.

A positive Romberg (unsteady with eyes closed, steady with eyes open) indicates posterior column disease. Gross lesions of the spinal cord rarely present with ataxia because of prominent weakness and spasticity. Cerebellar lesions produce dysmetria and decomposition of movement. Speech may be scanning, with each syllable pronounced separately.

With sensory ataxia, loss of touch causes little ataxia, but loss of proprioception causes severe ataxia, which increases with the eyes closed. The gait is wide-based with the feet landing with force. Both Romberg and pursuit (finger to nose or heel to shin) will be abnormal. It is caused by a lesion of the peripheral nerves, posterior columns (vitamin B₁₂ deficiency subacute combined degeneration), posterior roots (tabes), medial lemniscus, thalamus, or sensory cortex. Polyneuritis may be caused by diabetes, polyarteritis nodosa, alcohol, arsenic, Guillain-Barré, or porphyria.

Points of differentiation are as follows:

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

Peripheral Neuropathy: Differential Overview
(Field Guide to Bedside Diagnosis)

❑ Diabetes

❑ Alcohol

❑ Vitamin B₁₂ deficiency

❑ Drugs

❑ Carcinomatous

❑ Lead

❑ Guillain-Barré

❑ Tabes dorsalis

❑ Syringomyelia

❑ Polyarteritis nodosa

❑ Amyloidosis

❑ Polymyositis

❑ Pellagra

❑ Arsenic

❑ Porphyria

❑ Wallenberg syndrome

❑ Thalamic lesion

❑ Brown-Sequard syndrome

Diagnostic Approach

Sensory neuropathy symptoms include positive phenomena such as tingling; pins/needles; and burning, cold, or lancinating pain. Physical findings include weakness, fasciculations, atrophy, ataxia, wide-based gait, abnormal sweating, decreased or absent deep tendon reflexes, orthostatic hypotension, hypesthesia surrounded by a zone of hyperesthesia, and vibration or position sense affected before pinprick or temperature sense.

Autonomic neuropathy symptoms include impotence, retrograde ejaculation, diaphoresis, incontinence, urinary retention, constipation, diarrhea, orthostatic dizziness, and flushing. Physical findings include delayed pupillary light response, resting tachycardia, sinus arrhythmia, and orthostatic hypotension.

Sensory loss confined to part of a limb suggests injury to a peripheral nerve, plexus, or spinal root, resulting from trauma, entrapment, or vascular insufficiency. Mononeuropathy multiplex affects multiple nerves over time (e.g., due to diabetes or vasculitis). Polyneuropathy occurs in a stocking-glove distribution starting with the longest nerves, and is due to axonal neuropathy, with a toxic or metabolic origin. Bilaterally symmetrical symptoms are found in polyneuropathy or spinal cord lesions, while unilateral involvement is seen in contralateral disease of the brainstem, thalamus, or cortex.

Injury to large myelinated nerves produces decreased light touch and proprioception with a sensation of “walking on a thick carpet” or imbalance. Injury to medium fibers causes decreased light touch and vibration sense. Injury to small unmyelinated fibers, as occurs in diabetes or amyloidosis, decreases pain and temperature sensation and produces dysesthesias. Disproportionate loss of vibration sense and proprioception compared with pain and temperature sensation occurs with diseases of the dorsal column of the spinal cord (e.g., neurosyphilis, vitamin B ₁₂ deficiency, or multiple sclerosis) and demyelinating polyneuropathy.

Transverse cord lesions produce loss of all modalities below the level of the lesion and a band of hyperalgesia at the level of the lesion. Lateral cord compression is heralded by early sensory changes. Dorsal cord compression affects proprioception and tactile discrimination without pain or temperature loss. Pernicious anemia and tabes dorsalis preferentially affect the dorsal columns.

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

Ataxia: History
(Alarming Signs and Symptoms: Lippincott Manual of Nursing Practice Series)

If the patient’s condition permits, obtain his history. Ask about the onset and initial presentation of ataxia, noting whether it developed suddenly or gradually. Note a history of multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, or a family history of ataxia. Inquire about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury.

Physical examination

If the patient is able to stand, perform Romberg’s test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his sides. Note his posture and balance, first with his eyes open, and then closed. Minimal swaying indicates normal posture and balance, swaying and an inability to maintain balance with eyes open or closed suggests cerebellar ataxia, and increased swaying and an inability to maintain balance with eyes closed indicates sensory ataxia. Stand close to the patient during this test to provide support if he falls.

Evaluate motor strength when testing for gait and limb ataxia because motor weakness may mimic ataxic movements. Gait ataxia may be severe even when limb ataxia is minimal. Ask the patient with gait ataxia whether he tends to fall to one side and whether falls typically occur at night. With truncal ataxia, remember that the patient who has no symptoms while lying down but can’t walk or stand may appear to be experiencing hysteria or drug or alcohol intoxication.

» READ BOOK EXCERPT ONLINE »

Source: Alarming Signs and Symptoms: Lippincott Manual of Nursing Practice Series, 2007

Ataxia: History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)

If the patient isn’t in distress, review his history. Ask about multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, and a family history of ataxia. Also ask about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury. Find out if the patient’s ataxia developed suddenly or gradually.

» READ BOOK EXCERPT ONLINE »

Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

Ataxia: Clinical Features and Diagnosis
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

Acute Ataxia

Drugs, Chemicals, and Toxins

Usual ageof accidental drug ingestion is 1–4 yrs.

Drugs that can produce ataxia includeanticonvulsants (especially phenytoin, carbamazepine, primidone),hypnotics, and sedatives.

Other causes include ethyl alcoholor hydrocarbon solvent ingestion, glue or gasoline sniffing, andheavy metal (lead, mercury, thallium) or insecticide (DDT, lindane)poisoning.

History of ingestion and physical examusually are diagnostic. Otherwise, UA or blood analysis of drug,chemical, or toxin may be diagnostic.

Head Trauma

Can occur after concussion, along with headacheand dizziness. More serious head injury may produce cerebellar contusionor posterior fossa hematoma with ataxia, alteration in consciousness,and seizures.

Infection/Inflammation

Viral URIsand acute otitis media are common causes of labyrinthitis, whichis discussed in Chap. 73, Vertigo.

Bacterial meningitis, encephalitis,and brain abscess are other causes, as discussed in Chap. 3, Alteration in Consciousness.

Brain Tumor

Acute orchronic ataxia may be due to posterior fossa tumors (astrocytoma,ependymoma, medulloblastoma). Persistent headache, vomiting, nystagmus,neck stiffness, and head tilt are common associated findings.

Tumors of frontal lobe, thalamus, brainstem,or spinal cord also may cause ataxia. Seizures, impaired cognition,speech disturbance, and abnormal behavior may occur with frontallobe tumors, whereas pyramidal tract signs (spasticity, hyperreflexia)and choreoathetosis occur frequently with thalamic tumors. Commonfindings with brainstem tumors are pyramidal tract signs, cranialnerve palsies, and nystagmus. Pyramidal tract signs, impaired positionand vibration sense, impaired sensation below level of lesion (typicallysensory level on trunk), and bowel and bladder dysfunction may occurwith spinal cord tumors.

MRI is study of choice to locate anddefine extent of tumor. Histologic diagnosis is definitive.

Hydrocephalus

Ataxia maybe due to hydrocephalus where there is associated increased intracranial pressure.

CT is diagnostic.

See Chap.39, Macrocephaly.

Postinfectious/Immune Disorders

Acute Cerebellar Ataxia of Childhood

Precisecause is unknown, yet it often follows viral infections, includingvaricella.

Commonly occurs in children 1–5yrs of age.

Usual presentation is sudden onsetof unsteadiness while walking or inability to stand or walk. Slurredspeech and mild nystagmus also may occur.

Neurologic exam reveals clear sensorium,normal deep tendon reflexes, and normal sensation.

In most cases, recovery is completein 6–8 wks, but residual impaired speech, persistent ataxia,and disorders of behavior and learning may occur.

Because this is diagnosis of exclusion,drug screening and imaging study should be considered in each child.

Lumbar puncture is performed with suspectedencephalitis.

Acute Disseminated Encephalomyelitis

Definedas immune-mediated disorder that often occurs after viral infections.

Can present with ataxia or pyramidalsigns, and altered sensorium. Optic neuritis also may occur.

MRI is diagnostic method of choice.

Miller Fisher Syndrome

Consideredto be variant of Guillain-Barré syndrome.

In many cases, it is associated withstrains of C. jejuni.

Characteristic features are externalophthalmoplegia, ataxia, and areflexia.

Evolves over 1–2 wks withgenerally complete resolution.

Multiple Sclerosis

Definedas immune-mediated demyelinating disease that occurs in geneticallysusceptible individuals.

Occurrence is unusual before adolescence.

>1 anatomic area of nervoussystem is involved, and neurologic abnormalities tend to remit andrecur.

Can present with ataxia, vision disturbance(blurring, diplopia, loss of vision), numbness or paresthesia, headache,vomiting, vertigo, or combination of these findings.

CSF exam may be abnormal with mildpleocytosis, mild increase in protein, and sometimes presence ofoligoclonal bands.

MRI shows areas of demyelinization,especially affecting periventricular and spinal cord white matter,cerebellum, and brainstem.

Myoclonic Encephalopathy and Neuroblastoma

Characteristicfeatures are chaotic eye movements (opsoclonus), myoclonic movementsthat contribute to ataxia, and encephalopathy.

Pathogenesis is thought to be alteredimmune state.

Neuroblastoma is responsible for manycases and should be investigated. See Chap.1, Abdominal Masses.

Vascular Malformation

Spontaneouscerebellar hemorrhage can be due to rupture of arteriovenous malformation.

Headache and ataxia are major features.

CT is initial imaging study of choice.

Conversion Reaction

Hysteriain the form of conversion reaction can cause ataxia, especiallyin girls 10–15 yrs of age.

Individuals appear to sit without difficulty,but when asked to stand, they begin to sway from the waist. Insteadof assuming wide-based gait to assure stability, lurching and staggeringoccur.

History, clinical observation, andnormal physical and neurologic exams are diagnostic.

Episodic Ataxia

Epilepsy

Ataxia maybe the only evidence of seizure activity. It is episodic, and onsetis sudden. During episode, child may appear confused.

EEG is useful in diagnosis.

See Chap.59, Seizures.

Basilar Artery Migraine

Definedas episodic occurrences of brainstem or cerebellar dysfunction duringmigraine attack.

More common in girls during adolescencebut can occur at any age.

Episode often begins with visual disturbancefollowed by nausea and vomiting and sometimes ataxia. Paresthesias,vertigo, tinnitus, alternating hemiparesis, and alteration of consciousnessalso may occur. Neurologic symptoms are usually followed by throbbingoccipital headache.

Normal MRI and MRA exclude brain massesand vascular lesions. EEG excludes benign occipital epilepsy.

Benign Paroxysmal Vertigo

Usuallyoccurs in children 2–6 yrs of age.

Episodes are sudden and brief, usuallylasting a few minutes, and posture cannot be maintained. Child appearsfrightened and often lies on floor or asks to be held. Nystagmusalso may occur. Some children subsequently develop migraine headaches.

Complete recovery occurs between episodes.

Metabolic Disorders

Maple Syrup Urine Disease (Intermittent)

Onset ofintermittent form is usually between 5 mos and 2 yrs. Infection,surgery, or protein-rich diet may provoke episodes of ataxia andalteration in consciousness.

See Chap.3, Alteration in Consciousness and Chap. 13, Developmental Delay.

Hartnup Disease

Definedas autosomal-recessive disorder due to defect in intestinal andrenal transport of neutral amino acids. Gene locus has been mappedto chromosome 11q13.

Characteristic manifestations are photosensitiveskin rash (attributed to nicotinamide deficiency), cerebellar ataxia,emotional lability, and aminoaciduria. Marked increase in urinaryexcretion of neutral amino acids—alanine, asparagine, citrulline,glutamine, histidine, isoleucine, leucine, phenylalanine, serine,threonine, tryptophan, tyrosine, and valine—characterizesthis disorder. Serum amino acids are usually normal because transportsystem of small peptides remains intact.

Pyruvate Dehydrogenase Complex Deficiency

Consistsof several enzymes that catalyze oxidation of pyruvate to carbondioxide and acetyl CoA. 3 main enzymes are pyruvate decarboxylase(E1), dihydrolipoyl transacetylase (E2), and dihydrolipoyl dehydrogenase(E3). Deficiency of enzyme activity of any of these components resultsin lactic acidosis and CNS dysfunction.

Clinical spectrum varies from severelactic acidosis and cystic white matter lesions in neonates to lacticacidosis and psychomotor retardation in infants to mild acidosisand episodic ataxia in older children. Increased serum concentrationsof pyruvate and lactate are found.

Diagnosis is confirmed by deficiencyof one of the above enzymes in skin fibroblasts, leukocytes, ormuscle.

Dominant Recurrent Ataxias

2 distinctgenetic defects that cause episodic ataxia have been described—episodic ataxiatype 1 (due to mutations in the potassium channel gene on chromosome12) and episodic ataxia type 2 (due to mutations in the calciumchannel gene on chromosome 19). Genetic transmission in both defects isautosomal-dominant.

Onset of episodic ataxia type 1 isusually between 5 and 7 yrs. Duration of episode is usually ≤10mins but can last up to 6 hrs. Continuous movement (myokymia) ofsmall hand muscles may occur during and between episodes. Diagnosisis usually clinical and based on typical episodes and family history;however, electromyography can confirm diagnosis by demonstratingcontinuous motor unit activity, usually in the hands.

Onset of episodic ataxia type 2 isusually in school-aged children or adolescents. Episodes of ataxiamay be associated with vomiting, vertigo, and nystagmus. Episodesmay last between 1 hr and 1 day and may occur several times/mo.Diagnosis is usually clinical. Acetazolamide usually prevents recurrencesof episodes.

Chronic or Progressive Ataxia

Brain tumors, hydrocephalus, and multiplesclerosis are discussed in previous sections.

Congenital Malformations of the Cerebellum and/orBrainstem

Many malformations,including cerebellar hypoplasia, vermal aplasia, and Chiari malformations,and basilar impression may cause chronic ataxia.

MRI is diagnostic.

Cerebral Palsy

Ataxic form results in delayed attainmentof motor skills. Incoordination and hypotonia also may occur. Walkingmay not occur until 3–4 yrs and then with difficulty andfrequent falling.

Previous Brain Insults

Chronic ataxia may follow previous acutecauses of generalized brain insults such as bacterial meningitis,viral encephalitis, and head trauma.

Progressive Hereditary Ataxias

Friedreich Ataxia

Definedas autosomal-recessive disorder due to unstable triplet repeat offrataxin gene located on chromosome 9q13. Onset is usually at 2–16yrs.

Initial finding is many children isataxia. Slurred speech, sensorineural deafness, cardiomyopathy,and absence of deep tendon reflexes usually follow.

Molecular genetic diagnosis is definitive.

Spinocerebellar Degenerations

Definedas autosomal-dominant disorders characterized by involvement ofcerebellum and sometimes basal ganglia, brainstem, spinal cord,and optic nerve.

Clinical features are variable andinclude progressive ataxia, pyramidal and extrapyramidal signs,peripheral neuropathy, and visual loss.

In a number of these disorders, moleculargenetic analysis is available.

Ataxia Telangiectasia

Definedas autosomal-recessive disorder characterized by progressive truncalataxia, which usually begins during first year of life.

Telangiectasia usually occurs in childhoodand may be found on bulbar conjunctivae, ears, face, and extremities.

Recurrent sinus and pulmonary infectionsreflect underlying immunodeficiency.

See Chap.53, Recurrent Infection.

Metabolic Disorders

Refsum Disease

Definedas autosomal-recessive disorder due to decreased enzyme activityof phytanoyl-CoA hydroxylase, which catalyzes conversion of phytanicacid to pristanic acid. Gene locus has been mapped to chromosome10.

Characteristic features include retinitispigmentosa, cerebellar ataxia, and polyneuropathy. Night blindnessis often first symptom. Other findings include ichthyosis; cataracts;sensorineural hearing loss; cardiomyopathy; muscle weakness; andvariable loss of pain, touch, position, and vibration sensation.

Increased serum level of phytanic acidis diagnostic. Enzyme assay in cultured fibroblasts is definitive.

Other

Respiratorychain disorders, argininosuccinic aciduria, and abetalipoproteinemiaalso may cause chronic ataxia.

See Chap.3, Alteration in Consciousness and Chap. 14, Diarrhea.

Diagnostic Approach

Types of Ataxia

History—including mode of onset(acute, episodic, chronic/progressive)—and physicalexam help distinguish between different types of ataxia (cerebellar,labyrinthine, sensory, and frontal lobe).

Cerebellar Ataxia

Most commoncauses are acute cerebellar ataxia of childhood, drug intoxication,head trauma, and posterior fossa neoplasm.

Besides ataxia, other signs of cerebellarinvolvement include nystagmus, intention tremor, and swaying orlurching during tandem walking.

Labyrinthine Ataxia

Most commoncause is acute labyrinthitis secondary to viral upper respiratoryinfection or acute otitis media.

Nystagmus, vertigo, and hearing lossare common associated findings.

Sensory Ataxia

Causes includemultiple sclerosis and spinocerebellar degeneration disorders.

Signs of peripheral sensory loss (touch,pain, temperature, vibration, and position sensation), paresthesias,absent deep tendon reflexes, and limb weakness may be found withsensory ataxia.

Frontal Lobe Ataxia

Most commoncauses of frontal lobe ataxia are acute head trauma and frontallobe tumors.

Seizures, impaired higher corticalfunction (speech, behavior, cognition), and increased intracranialpressure in association with ataxia may signify frontal lobe lesion.

Evaluation

Type ofataxia, mode of presentation, and inheritance pattern help narrowdiagnostic possibilities.

History may indicate drug ingestion.

CT or MRI can diagnose congenital malformation,hydrocephalus, cerebral tumor, brain abscess, and cerebellar hemorrhage.

Lumbar puncture should be performedwith suspected meningitis, encephalitis, or multiple sclerosis afterneuroimaging has excluded mass lesion.

Electromyography and measurement ofnerve conduction velocity are useful with suspected sensory ataxia.

Vestibular function tests may be usefulwith suspected labyrinthine ataxia.

With ataxia and suspected metabolicdisorder, the following tests should be performed initially: serumelectrolytes, glucose, ammonia, lactate, and pyruvate; and quantitativeblood and urine amino acids. Other investigations depend on suspecteddiagnosis.

» READ BOOK EXCERPT ONLINE »

Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

Ataxia: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

If the patient isn't in distress, review his history. Ask about multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, and a family history of ataxia. Ask about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury. Find out if the patient's ataxia developed suddenly or gradually.

If necessary, perform Romberg's test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his side. Note his posture and balance, first with his eyes open, and then closed. Test results may indicate normal posture and balance (minimal swaying), cerebellar ataxia (swaying and inability to maintain balance with eyes open or closed), or sensory ataxia (increased swaying and inability to maintain balance with eyes closed). Stand close to the patient during this test to prevent his falling.

If you test for gait and limb ataxia, be aware that motor weakness may mimic ataxic movements, so check motor strength as well. Gait ataxia may be severe, even when limb ataxia is minimal. With gait ataxia, ask the patient if he tends to fall to one side, or if falling occurs more frequently at night. With truncal ataxia, remember that the patient's inability to walk or stand, combined with the absence of other signs while he's lying down, may give the impression of hysteria or drug or alcohol intoxication.

» READ BOOK EXCERPT ONLINE »

Source: Nursing: Interpreting Signs and Symptoms, 2007

SENSORY LOSS: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The neurologic examination will help to determine the location of the lesion. Peripheral neuropathy presents with diffuse distal loss of sensation to all modalities. Nerve root involvement will present with sensory loss in a radicular distribution; spinal cord involvement will be associated with a sensory level. Sensory loss to pain and temperature on one side of the face and the opposite side of the body is typical of posterior inferior cerebellar artery occlusion. If there is only loss of vibratory and position sense, look for pernicious anemia or a cerebral tumor. The workup for peripheral neuropathy and entrapment syndromes will include nerve conduction velocity (NCV) tests and EMGs. An MRI and CT scan can be done if brain and spinal cord pathology is suspected, but a neurologist should be consulted first. If a cerebrovascular disease is suspected, Doppler ultrasound and an MRA (magnetic resonance angiography) may be necessary as well. Ultimately, four-vessel cerebral angiography may be indicated.

» READ BOOK EXCERPT ONLINE »

Source: Differential Diagnosis in Primary Care, 2007

 » Next page: Signs of Refsum Disease

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Signs of Refsum Disease
• Complications of Refsum Disease
• Misdiagnosis of Refsum Disease
• Undiagnosed Refsum Disease
• Misdiagnosis of Underlying Causes of Refsum Disease

Tools & Services:

• Bookmark this page
• Take a survey relating to Refsum Disease
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

homepage | back to top

Common Health Mistakes

Choose ... Alzheimers & Dementia Asthma Child ADHD ADHD in Adults Allergy Hypertension Bipolar Breast Cancer Celiac Disease Crohns Disease Colon Cancer Contraception Diabetes Cancer Depression Erectile Disorder Cholesterol COPD GERD Heartburn/Reflux Metabolic Syndrome Migraine/Headache Multiple Sclerosis Obesity Osteoporosis Overactive Bladder Psoriasis Sexual Disorder Sleep Disorders Smoking The Pill Ulcerative Colitis All Common Mistakes

Symptom
Checker

Choose... Fever Rash Pain Headache Fatigue Cough Other symptoms

Search Specialists by State and City

Choose... GENERAL PRACTICE CARDIAC HEALTH WOMEN'S HEALTH CANCER CARE RADIOLOGY MENTAL HEALTH PATHOLOGY EAR, NOSE, THROAT MEDICINE GENETICS NEUROLOGY DIALYSIS CARE SURGERY ORTHOPEDICS/SPORTS MEDICINE CHILDREN'S HEALTH OTHER SPECIALTIES