Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).
Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal intelligence. One gene associated with PNH was mapped to chromosome Xq28. PNH with learning disability is reported in 15 male patients with several syndromes and various congenital abnormalities such as craniosynostosis, frontonasal malformation, and agenesis of the corpus callosum. We present a 26-year-old male patient who was followed up with the diagnosis of epilepsy from the age of 1 year. Additionally the patient had severe learning disability, obesity, and hypogonadism. Imaging of his brain demonstrated PNH. Klinefelter syndrome was clinically suspected, and analysis of his chromosomes revealed a karyotype 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). Molecular techniques, such as subtelomere-specific fluorescent in-situ hybridization and multicolour banding, were also used. The same translocation was demonstrated in his mother and his maternal grandmother. This family might help to explain the gene localization of X-linked recessive PNH. In our patient, PNH is associated with familial (X;19) translocation. To our knowledge, this unique combination has not been reported in the medical literature.
Balci
Sevim
S
Department of Clinical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. sbalci@hacettepe.edu.tr
Unal
Aysun
A
Engiz
Ozlem
O
Aktas
Dilek
D
Liehr
Thomas
T
Gross
Madelaine
M
Mrasek
Kristin
K
Saygi
Serap
S
D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002465:Cell Movement; D002869:Chromosome Aberrations; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007859:Learning Disabilities / Q000150:complications / Q000235:genetics*; D008297:Male; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics*; D009474:Neurons / Q000473:pathology; D010375:Pedigree; D013577:Syndrome