Miller-Dieker syndrome: A report of a new case and review of the literature

Article type: Research Article

Authors: Chabchoub, Imen | Maalej, Bayan | Belguith, Neila | Chaabouni, Mariam | Mansour, Lamia Ben | Mahfoudh, Khaireddine Ben | Kamoun, Thouraya | Chaabouni, Habiba | Mnif, Jamel. | Hachicha, Mongia

Affiliations: Service de Pédiatrie, Hôpital Hédi Chaker, Sfax, Tunisia | Service de Génétique médicale, Faculté de Médecine, Sfax, Tunisia | Service de Génétique et de Maladies Héréditaires, Tunis, Tunisia | Service de Radiologie, Hôpital Habib Bouguiba, Sfax, Tunisia

Note: [] Correspondence: Dr. Imen Chabchoub, Service de Pédiatrie, Hôpital Hédi Chaker, CHU Hédi Chaker, Sfax, Tunisia. Tel.: 0021698251087; Fax: 0021674249157; E-mail: chabchoubimen@yahoo.fr

Abstract: Miller-Dieker syndrome (MDS) is a gene deletion syndrome. It includes severe lissencephaly and a characteristic phenotypic appearance. Children with MDS also suffer from severe mental retardation, growth delay, epilepsy and occasionally hypsarrythmia on electroencephalogram. This disorder is invariably fatal in early childhood. Here, we report a new case of MDS associated with refractory atypical infantile spasms and severe mental retardation in a 3-year-old Tunisian boy. We emphasise the importance of prenatal diagnosis to avoid the recurrence of this severe handicap, particularly in the case of a familial reciprocal translocation.

Keywords: Miller-Dieker syndrome, classical lissencephaly, developmental delay, infantile spasms, atypical hypsarrythmia, deafness, FISH, 17p13.3, prenatal diagnosis

DOI: 10.3233/JPN-2011-0490

Journal: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 387-390, 2011