Neuropsychiatria i Neuropsychologia

Abstract

2/2012 vol. 7

Case reportNeuropsychiatric and neuropsychological aspects of Jadassohn syndrome – literature review and a case report

Neuropsychiatria i Neuropsychologia 2012; 7, 2: 97–106
Online publish date: 2012/10/06
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Jadassohn syndrome (linear nevus sebaceous syndrome) is a relatively common (1/1000 live births) congenital syndrome among phakomatoses. Probably, it is caused by cellular line mosaicism containing an autosomal dominant lethal mutation. The characteristic triad of symptoms includes syndrome-specific sebaceous nevi (nevi of Jadassohn) in Voight or Blaschko lines, mental retardation, and epileptic seizures resulting from CNS developmental abnormalities. The article presents clinical and neuropsychological characteristics of a patient with Jadassohn syndrome.
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