Case report: selective occipital lobe hydrocephalus and agenesis of the left lobe of the liver in congenital myotonic dystrophy.
Myotonic dystrophy (Steinert's disease) is an uncommon familial autosomal dominant disease, characterized by progressive muscular atrophy and myotonia. Mental retardation, frontal baldness, cortical lenticular opacities and testicular atrophy are other prominent features of a disease that involves predominantly striated muscle. There is little information regarding this disease in the radiological literature. The present report introduces two additional findings involving the skull and the liver.
Klin
B
B
Department of Paediatric Surgery, Assaf Harofeh Medical Center, Zerifin, Israel.
Efrati
Y
Y
Vinograd
I
I
D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000000981:diagnostic imaging; D008099:Liver / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009223:Myotonic Dystrophy / Q000150:complications / Q000151:congenital* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed