Researchers at the National Institutes of Health, Bethesda, MD; Children’s National Medical Center; and George Washington University, Washington, DC present 7 patients with Muenke syndrome complicated by epilepsy. A review of 789 published cases of Muenke syndrome with neurological complications identified epilepsy in 6 cases, with intracranial anomalies in 5. The intracranial anomalies were agenesis of the corpus callosum, hemimegalencephaly, and porencephaly. In the review of 58 patients with Muenke syndrome in the Washington, DC cohort, 7 (12%) had epilepsy and 4 survived neonatal apnea. Patients with Muenke syndrome should be monitored for apnea and seizures. Those with seizures or febrile seizures should undergo neuroimaging, preferably MRI. [1]

COMMENT. Muenke syndrome has an autosomal dominant inheritance and is characterized by craniosynostosis, most commonly coronal uni- or bilateral, asymmetry of skull and face, sensorineural hearing loss, developmental delay, broad toes and thumbs, fusion of carpal and tarsal bones, hypertelorism, ptosis, strabismus, midface hypoplasia, and fronto-temporal bossing. The syndrome is caused by a mutation in the FGFR3 gene, with variable expressivity and phenotype [2]. Other craniosynostosis syndromes associated with the fibroblast growth factor receptors (FGFR) include Crouzon, Apert, and Pfeiffer syndrome. [3]