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)

An infant with oculocerebrocutaneous (Delleman) syndrome (1), only 26 cases of which have been reported (2), presented with focal alopecia of scalp, periorbital skin appendages, hypertrophy of the skin (Fig. 1A), left-sided orbital cyst, lid coloboma, cleft palate (Fig. 1B), neonatal seizures, cerebral hemiatrophy, multiple intracranial cystic spaces, and enlarged lateral ventricles. The anomalies often require multiple anesthetics for examination of the eye, drainage of the orbital cyst, repair of lid coloboma, enucleation of the eye, excision of skin tags, and repair of cleft palate. Although this infant's perioperative course was uneventful, he had significant preoperative problems, such as neonatal seizures and an episode of aspiration pneumonia. Because the Delleman syndrome is rare, this case is presented to illustrate possible anesthetic implications of the disease.
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PMID:Delleman syndrome: anesthetic implications. 972 26

Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.
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PMID:Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case. 1269 31

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