The physical appearance of the patient can be very helpful in determining a diagnosis.
A high forehead is suggestive of:
Frontal bossing may suggest:
Microcephaly is characteristic of:
Other causes of cerebral and somatic dysmorphism associated with epilepsy include:
Defects in hair and skin are also important clues:
A Wood’s lamp examination of the skin for hypopigmentation should, therefore, be a routine part of the workup of a child who is experiencing seizures.
Growth failure is a common feature of many hereditary metabolic diseases. Short stature is found in patients with:
Hepatomegaly with liver dysfunction may be a sign of:
The liver is enlarged early in the course of Niemann-Pick disease types A and B, but liver failure occurs only as a late sequela. Liver failure is found also in certain mitochondrial disorders and in Zellweger syndrome.
Splenomegaly in an infant with seizures will suggest type 2 Gaucher’s disease. A later onset is typical of type 3 Gaucher’s disease.
Reviewed and revised May 2004 by Steven C. Schachter, MD, epilepsy.com Editorial Board.
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