Neuropediatrics 2006; 37 - MP84
DOI: 10.1055/s-2006-943681


SM Beni 1, C Hoffmann 1, E Goshen 1, M Friedman 1, B Ben-Zeev 1
  • 1Ramat-Gan, Israel

Objectives: Stroke-like episodes complicate some neurocutaneous syndromes yet are rare in others. We report two patients with incontinentia pigmenti (IP) and cutis marmorata telangiectatica (CMT) presenting during childhood with ischemic episodes. Methods: Case 1: A female newborn presented with microphtalmia, vesicular rash, fever and multiorgan failure. Dysmorphism included local alopecia, abnormal dentition and Bleschko lines. Left partial complex seizures developed at 6 years. A prolonged GTC-seizure at 10y was followed by dense, persistent left hemiparesis. Hemi-ataxia evolved within the same period. She remains stable under Aspirin treatment. Case 2: 3.5 y female with congenital livedo-reticularis and developmental delay presented with recurrent hemiparesis lasting 1–72 hours.

Results: Case 1: Metabolic, infectious and coagulation workup was negative. MRI showed an abnormal signal in the right thalamus and chronic white matter changes. TC99M-ECD-SPECT revealed a non-homogenous decreased uptake suggestive of small-vessel disease. A large deletion in the NEMO gene confirmed IP. Case 2: MRI depicted abnormal vasculature consistent with Moya-Moya. SPECT demonstrated several regions of hypoperfusion. Coagulopathy and vasculitis were excluded.

Conclusion: IP is an X-linked dominant genodermatosis involving skin, adnexa, eyes, cardiovascular system and brain. Neurological manifestations include neonatal encephalopathy, seizures and focal deficits. Pathogenesis consists of ischemic changes or cortical dysgenesis. Clinical and neuroimaging features in our patient support an active small-vessel disease. CMT is a clinical diagnosis consisted of skin stigmata, developmental delay, macrocephaly, segmental overgrowth and visceral involvement. Moya-moya vessels and vasculopathy were demonstrated in 2/5 CMT patients with stroke-like episodes. Neuroimaging in our patient suggested moya-moya disease. Conclusion: progressive and/or recurrent neurological deficits in neurocutaneous syndromes may implicate on-going vasculopathy.