lncontinentia Pigmenti (Bloch-Sulzberger Syndrome): A Case Report | 2004, Volume 10 - Issue 2

Hakan KALEAĞASI¹, Ebru BÖCEKLİ¹, Okan DOĞU¹, Serhan SEVİM¹, Tamer KAYA²

¹Mersin Üniversitesi Tıp Fakültesi Nöroloji Anabilim Dalı, MERSİN
²Mersin Üniversitesi Tıp Fakültesi Dermatoloji Anabilim Dalı, MERSİN

Keywords: Catamenial seizures may be a clinical feature of lP. Add on treatment with acetazolamide can provide seizure control in lP.

Abstract

Background: lncontinentia pigmenti (lP), also known as Bloch-Sulzberger syndrome, is a rare, multi-systemic, genetic disease of the skin, hair, teeth and central nervous system, which is inherited as a X-linked dominant trait. It is classified as sporadic IP (IP1) and familial lP (lP2). Objective: To report a case of sporadic lP with catamenial seizures.Findings: Physical and neurological examination showed left hemiatrophy, linear hyperpigmented macular skin lesions, mild mental and motor retardation and dysartria. Electroencephalography (EEG) showed bilateral central and frontal hyperexcitability, and brain magnetic resonance imaging demonstrated neuronal migration and organisation abnormalities such as polymicrogyri (cortical dysplasia) and subcortical heterotopia in both temporoparietal regions. Skin biopsy findings was consistent with lP.