Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management.
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PMID:Delleman Oorthuys syndrome. 2562 88