title: [Megalencephaly: a report of 4 children including a previously undescribed congenital syndrome and review of the literature (author's transl)].
abstract: The author recently examined four children of clinical macrocephaly. Their occipitofrontal head circumference was exceeded 2 standard deviations above the mean for chronological age. Megalencephaly with normal ventricular system was proved by computerized tomography or pneumoencephalography. The purpose of this paper is to report four cases with various clinical aspects and to discuss the similarity of these patients. Additionally, previously reported syndromes with macrocephaly and multiple hemangiomas were presented in Table 4. Case 1 A 6 year-old was accidentally admitted because of infectious disease. His development was uneventful. Case 2. A 2 year-old boy was admitted because of delayed speech and delayed walking. He had no neonatal complications and no history of convulsions. Case 3. A 4 year-old boy was accidentally admitted because of abdominal pain. His physical examination exhibited diffuse hemangiomatous lesions on the right side of face, neck and chest, and congenital glaucoma. He was diagnosed as Sturge-Weber anomalad at the age of 2 years. Case 4. A 3 year-old girl was admitted because of distended abdomen. She had widely spread strawberry hemangioma on her right abdominal wall and blue and brownish phacomatosis on her back. GI tract examination showed lymphoid hyperplasia of the colon. Clinical profiles are presented in Table 3. These patients were different from Sotos syndrome (cerebral gigantism), but had the following similar findings besides megalencephaly-1) large birth weight (mean; 3961 g), 2) hypotonic and wasting muscles, 3) clumsy in walking and running, 4) no hereditary tendency. The Cases 1, 3 and 4 had normal mental development. The Case 4 was seemed as a previously undescribed clinical syndrome in which the principal features were megalencephaly, distended abdomen, hypotonic and wasting muscles, lymphoid hyperplasia of the colon, retroperitoneal cavernous hemangioma, and cutaneous hemangioma and neuroma. The relationship between cutaneous involvement and megalencephaly was unknown.
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications; D005260:Female; D006391:Hemangioma / Q000150:complications; D006801:Humans; D008297:Male; D011011:Pneumoencephalography; D012186:Retroperitoneal Neoplasms / Q000150:complications; D013341:Sturge-Weber Syndrome / Q000150:complications; D014057:Tomography, X-Ray Computed