Korean J Perinatol.  2008 Sep;19(3):308-311.

A case of hemimegalencephaly with congenital foot deformity

Affiliations
  • 1Department of Pediatrics, College of Medicine, Inje University, Busan Paik Hospital, Busan, Korea. pedsin@inje.ac.kr

Abstract

Hemimegalencephaly is a rare congenital malformation of the cortical development arising from abnormal proliferation of anomalous neuronal and glial cells. The characteristic clinical manifestations are macrocephaly, psycomotor retardation, intractable seizure and hemihypertrophy of face, body and extremities, but musculoskeletal deformities are reported only in case of epidermal nevus syndrome. We report a case of hemimegalencephaly that was associated with foot deformity, without symptoms and signs of epidermal nevus syndrome.

Keyword

Hemimegalencephaly; Hemihypertrophy; Musculoskeletal deformity

MeSH Terms

Congenital Abnormalities
Extremities
Foot Deformities
Foot Deformities, Congenital
Macrocephaly
Malformations of Cortical Development
Neuroglia
Neurons
Nevus
Nevus, Sebaceous of Jadassohn
Seizures
Nevus, Sebaceous of Jadassohn
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