MENTAL RETARDATION
MENTAL RETARDATION: Excerpt from Algorithmic Diagnosis of Symptoms and Signs
Ask the Following Questions:
- Is there decreased hair and skin pigment? These findings would suggest phenylketonuria.
- Are there abnormal secondary sex characteristics? These findings would suggest Klinefelter's syndrome, Turner's syndrome, and Laurence-Moon-Bardet-Biedl syndrome.
- Are there abnormalities of the skull present? Findings of deformities or enlargement of the skull should suggest rickets, microcephaly, hypertelorism, oxycephaly, and hydrocephalus, among other things.
- Is there hepatosplenomegaly? The findings of hepatosplenomegaly suggest galactosemia, Hurler's disease, and Gaucher's disease, among other diagnostic possibilities.
- Are there skin changes? Sturge-Weber syndrome, tuberous sclerosis, neurofibromatosis, and cretinism may present with skin changes. Kernicterus is associated with jaundice.
- Are there other neurologic signs? Tay-Sachs disease, congenital syphilis, Arnold-Chiari malformation, and cerebral diplegia are just a few of the causes of mental retardation that may present with other neurologic signs.
DIAGNOSTIC WORKUP
Routine laboratory tests include a CBC, sedimentation rate, chemistry panel, serum galactose level, VDRL test, thyroid profile, and urine screen for carbohydrates, amino acids, and organic acids. Chromosomal analysis may detect Klinefelter's syndrome, Turner's syndrome, mongolism, and other disorders. If there are deformities of the skull present, a skull x-ray should be done.
An EEG, CT scan of the brain, and psychometric testing will often need to be done, but a referral to a neurologist should be made before ordering these expensive tests.
Book Source Details
- Book Title: Algorithmic Diagnosis of Symptoms and Signs
- Author(s): R. Douglas Collins
- Year of Publication: 2003
- Copyright Details: Algorithmic Diagnosis of Symptoms and Signs, Copyright © 2003 Lippincott Williams & Wilkins.
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Fragile X syndrome (Professional Guide to Diseases (Eighth Edition))
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