eISSN: 2084-9885
ISSN: 1896-6764
Neuropsychiatria i Neuropsychologia/Neuropsychiatry and Neuropsychology
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SCImago Journal & Country Rank
2/2012
vol. 7
 
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abstract:

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

Karol Świeca
,
Jan Jaracz
,
Lucyna Raczkowiak
,
Janusz Rybakowski

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.
keywords:

adassohn syndrome, linear nevus sebaceous syndrome, lithium, carbamazepine, risperidone

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