Diagnosis of Microcephalic osteodysplastic primordial dwarfism, type 1
Microcephalic osteodysplastic primordial dwarfism, type 1 Diagnosis: Book Excerpts
Diagnostic Tests for Microcephalic osteodysplastic primordial dwarfism, type 1: Online Medical Books
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DWARFISM:
Ask the following questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is there disproportion of the trunk and extremities? These findings would suggest achondrodysplasia.
- Is there obesity? The finding of obesity would suggest Fröhlich's syndrome, Laurence-Moon-Bardet-Biedl syndrome, and Brissaud's infantilism.
- Is there appearance of wasting and/or malnutrition? The presence of wasting or other signs of malnutrition suggests chronic nephritis, congenital heart disease, progeria, malnutrition, and rickets.
- Is there an unusual appearance to the skull or face? These findings suggest mongolism, cretinism, microcephaly, hydrocephalus, and cleidocranial dysostosis, among other conditions.
- Are there abnormal secondary sex characteristics? The development of secondary sex characteristics is impaired in Turner's syndrome and pituitary dwarfism.
DIAGNOSTIC WORKUP
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones.
If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
WEIGHT LOSS:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is there fever? The presence of fever would suggest an infectious disease, such as tuberculosis, AIDS, brucellosis, and typhoid fever, but collagen diseases and neoplasms should not be forgotten.
- Is there anorexia? The presence of anorexia may be related to a febrile process, but if there is no fever one should consider the possibility of Addison's disease, anorexia nervosa, Simmonds' disease, drug abuse, poisoning such as arsenic poisoning, scurvy, malabsorption syndrome, uremia, and liver failure. There may also be a neoplasm.
- Is there lymphadenopathy? The presence of generalized lymphadenopathy should suggest leukemia, sarcoidosis, and lymphoma, as well as infectious disease processes.
- Is there an abdominal mass? An abdominal mass may be an enlarged spleen, a pancreatic carcinoma, an enlarged liver, or renal mass. These masses would suggest disease of those organs. The mass also may be a carcinoma of the stomach or intestine.
- Is there hyperpigmentation? The presence of hyperpigmentation would suggest Addison's disease.
- Is the appetite normal or increased? The presence of a normal or increased appetite in the presence of weight loss should suggest hyperthyroidism and diabetes mellitus. The patient also may be taking thyroid hormone medication in increased quantities.
- Is the thyroid gland enlarged? The presence of an enlarged thyroid would suggest hyperthyroidism. One should also look for a focal thyroid mass which might be a toxic adenoma.
- Is the chest x-ray abnormal? Abnormalities found on x-ray that may induce weight loss are carcinoma of the lung, tuberculosis, congestive heart failure, pulmonary emphysema, and fibrosis.
DIAGNOSTIC WORKUP
Routine diagnostic studies include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid panel, serum amylase and lipase, febrile agglutinins, tuberculin test, ANA titer, serum protein electrophoresis, serum B
12
and folic acid, chest x-ray, EKG, and a flat plate of the abdomen. An HIV antibody titer needs to be done in selected clinical circumstances.
A stool for fat, trypsin, occult blood, and ovum and parasites should be done. Further tests for steatorrhea are listed on
page 446
. If these tests are within normal limits or are unrevealing, it is best to refer the patient to a gastroenterologist or oncologist for further evaluation. Sometimes, clinical clues suggest the need for an endocrinologist or psychiatrist as well. However, if the primary care physician wishes to proceed further, he may order an upper GI series and esophagogram, a small bowel series, barium enema, and a sigmoidoscopic examination. A CT scan of the abdomen and pelvis may be useful, but it is an expensive procedure.
Twenty-four-hr urine collection for 17-ketosteroids and 17-hydroxysteroids or rapid ACTH stimulation test will diagnose Addison's disease. Quantitative stool fat and
d
-xylose absorption or a simple glucose tolerance test will diagnose some cases of malabsorption syndrome. Endoscopic procedures, including laparoscopy and even an exploratory laparotomy, have their place in the diagnostic workup. However, it is always best to enlist the help of specialists before considering these procedures, even if one is located in an isolated community.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
Weight Loss:
Differential Diagnosis
(In a Page: Signs and Symptoms)
Malignancy
–Mediated by enhanced production of cytokines (e.g., TNF-α
, interleukin-6)
-
Gastrointestinal and malabsorption disorders (e.g., celiac disease, Crohn's disease, cystic fibrosis, PUD)
–Diarrhea is often present
-
Depression
–Weight loss is one diagnostic criterion
–Most common cause of weight loss in
outpatient populations
HIV infection
Hypercalcemia
–Usually occurs in patients with cancer
Advanced cardiac and pulmonary disease
–CHF (“cardiac cachexia”)
–COPD
Chronic drug use (e.g., alcohol, nicotine, lead, opiates, CNS stimulants)
Hyperthyroidism
–Increased appetite and increased energy expenditure
–May present with tachycardia,
hypertension, brisk reflexes, and
ophthalmopathy
Uncontrolled diabetes mellitus
Hyperemesis gravidarum
–Pathologic exaggeration of early-pregnancy
nausea
–Elevated β-hCG and estrogen levels
-
Adrenal insufficiency
–Anorexia, nausea, and fatigue are common
-
Anorexia nervosa
–May present with low albumin, parotid enlargement, lesions on knuckles and diminished tooth enamel from induced vomiting, and menstrual irregularities
-
Failure to thrive (infants)
–Parental neglect, emotional deprivation
–Improper mixing of formula
–Significant heart (shunts) or lung disease
–Inborn errors of metabolism
-
Intestinal parasites
Workup and Diagnosis
-
Comprehensive history and physical examination, including assessment of diet and caloric intake
-
In patients with adequate caloric intake, endocrine and malabsorptive disorders are more likely
-
Initial tests may include CBC, serum chemistries, glucose (to rule out diabetes), thyroid function tests, ESR, and albumin and/or prealbumin
-
HIV testing if risk factors are present
-
Chest X-ray in smokers
-
Age-appropriate cancer screening (e.g., mammography, fecal occult blood testing, flexible sigmoidoscopy or colonoscopy)
-
Morning (AM) cortisol and ACTH stimulation test if suspect adrenal insufficiency
-
Consider upper GI endoscopy, colonoscopy, and GI consult
» READ BOOK EXCERPT ONLINE »
Source: In a Page: Signs and Symptoms, 2004
Weight Loss:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Infectious
–The most common cause overall and can be divided into acute and chronic
–Gastroenteritis most common infection
–May be viral, bacterial, fungal, or parasitic
–Estimated 21–37 million episodes a year in
children under 5
–Others include strep, osteomyelitis, EBV, TB
-
Psychiatric/psychosocial
–Anorexia nervosa
–Bulimia
–Depression
–Rumination
–Drugs: Cocaine, amphetamines, laxatives
-
Gastrointestinal disorders
–Gastroesophageal reflux disease
–Inflammatory bowel disease
–Hepatitis
–Pancreatitis
–Pancreatic insufficiency (e.g., CF,
Shwachman syndrome)
–Celiac disease
–Sucrase-isomaltase deficiency
–Fat malabsorption: Abetalipoproteinemia
–Protein malabsorption: Hartnup disease
–Superior mesenteric artery syndrome
-
Nutritional
–Dieting; inadequate caloric intake
–Iron deficiency
–Zinc deficiency
–Neglect
-
Metabolic/endocrine
–Diabetes mellitus
–Diabetes insipidus
–Addison disease
–Hyperthyroidism
–Hypopituitarism
-
Malignancy
-
HIV
-
Acute/chronic renal failure
-
Inflammatory
–Systemic lupus erythematosus
–Juvenile rheumatoid arthritis
–Sarcoidosis
-
Neurologic
–Increased ICP: Pseudotumor cerebri, mass
-
Cardiopulmonary
–Cystic fibrosis
–Congenital heart disease
–Congestive heart failure
Workup and Diagnosis
- History
–Bowel function including number and consistency of stools, melena, hematochezia, vomiting, abdominal pain, fever, headache, diaphoresis, sick contacts, travel history, oral intake
–Diet history: Food consumption, number of meals
–Medications: Prescription and over-the-counter
–Social history: Changes in family structure, alcohol,
illicit drug use, smoking, changes in grades in school, changes in activities and interests
–Developmental history: Milestones, multiple points on growth curve
-
Physical exam
–Height/weight, pulse, blood pressure, mucous membranes, scleral icteris, adenopathy, neck mass, thyroid, lung sounds, murmurs, abdominal mass/tenderness, hepatosplenomegaly, skin turgor, joint tenderness, neuro exam including funduscopy, gynecologic exam
-
Laboratory/radiology are based on H&P
–Initial electrolytes, CBC with differential
–Consider LFT, amylase/lipase, ESR, iron studies
–Throat culture, stool culture, stool for O&P
–Stool for blood, urinalysis and culture, fat/reducing
substances, thyroid function
–HIV test, PPD
–Consider chest X-ray
–Limited value of CT/MRI unless dictated by H&P
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
DWARFISM:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of dwarfism should probably be done by an endocrinologist. Many of the causes are genetic and untreatable, but it would be a shame to miss cretinism, hypopituitarism, or Turner syndrome. All of these have associated findings that should help differentiate them, but hypopituitarism may be very subtle. Cystic fibrosis can be diagnosed by a sweat test. Down syndrome, Turner syndrome, and certain other genetic causes can be determined by a chromosomal analysis.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
WEIGHT LOSS:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Weight loss rarely occurs as the only symptom. When it seems to be the only symptom, there is almost invariably a psychiatric disorder such as depression or anorexia nervosa to explain it. More often the diagnosis of weight loss can be made by the other associated symptoms. For example, weight loss with a good appetite, polyuria, and polydypsia should point to hyperthyroidism and diabetes mellitus. Weight loss with weakness and polydypsia but no increase of appetite points to diabetes insipidus. Weight loss, weakness, and loss of appetite suggest the possibility of a malignancy, chronic infectious disease, or endocrine disorder. Weight loss with significant local or generalized lymphadenopathy suggests chronic leukemia, lymphoma, sarcoidosis, or a chronic infectious disease process. Weight loss with hyperpigmentation of the skin suggests Addison disease or hemochromatosis. Weight loss with significant pallor of the skin and mucus membranes suggests a diagnosis of anemia, malabsorption syndrome, and malignancy. Weight loss with jaundice suggests alcoholic cirrhosis, chronic hepatitis, primary or metastatic neoplasm of the liver, or biliary cirrhosis. The initial workup of weight loss should include a CBC, sedimentation rate, chemistry panel, thyroid profile, urinalysis, stool for occult blood, chest x-ray, and flat plate of the abdomen. If there is fever, the workup of this symptom can be pursued (see page 207). Other tests may be ordered depending on which disease is suspected. Before ordering a battery of tests, it may be wise to get a psychiatric consult and make sure there is not a “supratentorial” cause for the problem.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
Low birth weight:
History and physical examination
(Handbook of Signs & Symptoms (Third Edition))
As soon as possible, evaluate the neonate’s neuromuscular and physical maturity to determine gestational age. (See Ballard Scale for calculating gestational age, pages 382 and 383.) Follow with a routine neonatal examination.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Signs & Symptoms (Third Edition), 2006
Low birth weight:
History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))
As soon as possible, evaluate the neonate’s neuromuscular and physical maturity to determine gestational age. (See Ballard Scale for calculating gestational age, pages 488 and 489.) Follow with a routine neonatal examination.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Weight Loss:
History: Initial data
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
A. Is the loss intentional? Consider dieting, diuretics, and eating disorders.
B. What is the patient’s average daily or weekly intake? Consider frequency of meals, appetite changes, and difficulty with food preparation.
C. Tobacco, alcohol, and drug histories are very important and frequently lead to other concerns.
D. Chronic conditions? Medical, surgical, psychiatric, and family histories are always pertinent.
E. Social factors include stress, isolation, and the cost and effort required to eat.
Basic physical examination
A. Relevant physical findings will be present in 66% of cases (1,2,5).
B. Quantify loss by serial weight measurements.
C. Check the vital signs: temperature, blood pressure, and respiratory and heart rates. Consider determining oxygen saturation.
D. Perform a physical examination, with emphasis on areas suggested by clues from the history.
» READ BOOK EXCERPT ONLINE »
Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
Low birth weight:
History and physical examination
(Nursing: Interpreting Signs and Symptoms)
As soon as possible, evaluate the neonate's neuromuscular and physical maturity to determine gestational age. (See Ballard Scale for calculating gestational age.) Follow with a routine neonatal examination.
» READ BOOK EXCERPT ONLINE »
Source: Nursing: Interpreting Signs and Symptoms, 2007
DWARFISM:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of dwarfism should probably be done by an endocrinologist.
Many of the causes are genetic and untreatable, but it would be a shame to
miss cretinism, hypopituitarism, or Turner syndrome. All of these have
associated findings that should help to differentiate them, but
hypopituitarism may be very subtle. Cystic fibrosis can be diagnosed by a
sweat test. Down syndrome, Turner syndrome, and certain other genetic causes
can be determined by a chromosomal analysis.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
WEIGHT LOSS:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Weight loss rarely occurs as the only symptom. When it seems to be the
only symptom, there is almost invariably a psychiatric disorder such as
depression or anorexia nervosa to explain it. More often the diagnosis of
weight loss can be made by the other associated symptoms. For example,
weight loss with a good appetite, polyuria, and polydipsia should point to
hyperthyroidism and diabetes mellitus. Weight loss with weakness and
polydipsia but no increase of appetite points to diabetes insipidus. Weight
loss, weakness, and loss of appetite suggest the possibility of a
malignancy, chronic infectious disease, or endocrine disorder. Weight loss
with significant local or generalized lymphadenopathy suggests chronic
leukemia, lymphoma, sarcoidosis, or a chronic infectious disease process.
Weight loss with hyperpigmentation of the skin suggests Addison disease or
hemochromatosis. Weight loss with significant pallor of the skin and mucus
membranes suggests a diagnosis of anemia, malabsorption syndrome, and
malignancy. Weight loss with jaundice suggests alcoholic cirrhosis, chronic
hepatitis, primary or metastatic neoplasm of the liver, or biliary
cirrhosis. The initial workup of weight loss should include a CBC,
sedimentation rate, chemistry panel, thyroid profile, urinalysis, stool test
for occult blood, chest x-ray, and flat plate of the abdomen. If there is
fever, the workup of this symptom can be pursued . Other tests may be ordered depending on which
disease is suspected. Before ordering a battery of tests, it may be wise to
get a psychiatric consult and make sure there is not a “supratentorial”
cause for the problem.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
Weight Loss:
Weight Loss - DIAGNOSIS
(The 5-Minute Pediatric Consult)
- Determine the acuity or chronicity and severity of weight loss, and the need for hospitalization.
- Attempt to narrow the diagnostic possibilities by history and examination, particularly by assessing if the loss might be attributable to diminished intake, diminished absorption, or increased requirements.
» READ BOOK EXCERPT ONLINE »
Source: The 5-Minute Pediatric Consult, 2008
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