Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report

Abstract

<b><i>Background:</i></b> Knobloch syndrome (KS) is a rare autosomal recessive disorder associated with multiple ocular and cranial abnormalities. Occult occipital skull defect or encephalocele should raise suspicion of this disease. It is never reported in neurosurgical literature, possibly due to a lack of clinician familiarity, leading to underdiagnosis and inadequate management. Our patient also had seizures, which is a sporadic presentation of this syndrome. <b><i>Case Description:</i></b> Here, we report a clinico-radiologic finding of a 7-year-old boy who presented with seizures, cataracts, and an occipital bone defect along with bilateral subependymal heterotopias and polymicrogyria. <b><i>Conclusions:</i></b> This case highlights the importance of consideration of this syndrome in children with a midline occipital bone defect with or without encephalocele and seizures. Early recognition of this presentation is critical for obtaining access to appropriate genetic counseling and subsequent monitoring and prevention of complications by surgical intervention.