Clinical Images: Postterm Newborn with Lissencephaly Presented with Seizure: Case Report and Review of Literature

• Published in: The Ochsner journal Vol. 15; no. 2; pp. 127 - 129
• Main Authors: Alhasan, Mustafa, Mathkour, Mansour, Milburn, James M
• Format: Journal Article
• Language: English
• Published: United States Ochsner Clinic Foundation Academic Center - Publishing Services 01-01-2015; the Academic Division of Ochsner Clinic Foundation
• Subjects: Babies; Case reports; Convulsions & seizures; Epilepsy; Intellectual disabilities; Males; Medical imaging; Medical prognosis; Microcephaly; Mutation; NMR; Nuclear magnetic resonance; Patients; Pediatrics; Brazil; Germany; Turkey
• ISSN: 1524-5012

The baby had a mild respiratory disease on admission that required nasal cannula support for 24 hours. Complete blood count showed no elevated white blood cells or left shift, and platelet count was within normal limits. Genetic analysis of the ARX gene revealed a novel frameshift mutation in exon 4 (nt1419_1420insAC), leading to a shortened protein lacking the aristaless domain. 5 In summary, analysis of the ARX gene should not only be considered in male patients with typical features of XLAG syndrome but also in those presenting with early-onset epilepsy, ACC, and abnormal genitalia without obvious neuroradiologic features of lissencephaly. 5 Lissencephaly is a neurologic disorder with a bad prognosis because of poorly controlled seizures and mental retardation.