Seckel Syndrome and Vasculopathy: A Case Report

Abstract

Seckel syndrome is a rare autosomal recessive disorder, characterized by intrauterine and postnatal growth retardation, microcephaly, mental retardation, and facial dysmorphisms including micrognathia, recessed forehead, a large beaked nose, and dental anomalies. Seckel syndrome has been associated with congenital brain malformations and intracranial aneurysms. We describe a patient with “Seckel syndrome” and stroke. Magnetic resonance imaging of the brain revealed infarction in bilateral middle cerebral artery territories. Magnetic resonance angiography of the brain showed absence of right middle and left anterior cerebral arteries with some collateral formation above the level of both internal carotid arteries which was suggestive of moyamoya disease. Considering the symptoms, right encephalomyosynangiosis was performed for the patient. The child experienced reasonable recovery, and after 4 months of rehabilitation, she could walk with minimal disability in her right lower extremity.

Keywords

Seckel syndrome - moyamoya - intracranial aneurysms

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