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

• Published in: The Ochsner journal Vol. 15; no. 2; p. 127
• Main Authors: Alhasan, Mustafa, Mathkour, Mansour, Milburn, James M
• Format: Journal Article
• Language: English
• Published: 01-07-2015
• ISSN: 1524-5012

Malformations of cortical development include a wide range of anomalies that commonly lead to developmental delay and epilepsy. A 1-day-old male, postterm, born to healthy nonconsanguineous parents, presented with seizure and apnea within the first hour of life. In this case, the patient's features upon presentation suggested X-linked lissencephaly with abnormal genitalia syndrome, although the infant lacked the abnormalities involving the genitalia. In a study done in Turkey, 21 patients with lissencephaly were evaluated, and 78% of patients developed epileptic seizures. The epilepsy is often resistant to treatment. Twelve patients had microcephaly, and 8 had facial dysmorphism. All the patients had prominent moderate to severe psychomotor retardation. The most frequent neurologic findings were spastic quadriplegia and hypotonia with exaggerated tendon reflexes. Most cases are associated with intractable epilepsy and the lack of psychomotor development. The maximum survival reported is 4 years. Most patients die before the age of 18 months.