[Recurrence of transient splenial lesions in a child with "benign convulsions with gastroenteritis"].

We report a 2-year-old girl who demonstrated "benign convulsions with gastroenteritis (CwG)" with transient splenial lesions twice during the winter. The first episode was associated with noro-virus and the second with rota-virus. During each episode, seizures occurred in clusters without clinical signs of dehydration, hypoglycemia, electrolyte derangement or cerebrospinal fluid abnormalities, and her consciousness was clear during the interictal period. Those findings were consistent with CwG. As transient splenial lesions were not accompanied by any neurological abnormalities other than seizures, she was not diagnosed as having encephalopathy, but as having CwG. Diffusion-weighted magnetic resonance imaging of the brain demonstrated hyperintense lesions in the splenium of the corpus callosum, which disappeared within a week. We speculate that CwG is likely to lead to transient splenial lesions.

Short stature and turner skeletal features in an 11-year-old boy with a ring y chromosome missing the short stature homeobox containing gene.

We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the association of SHOX haploinsufficiency with short stature and Turner skeletal features, and suggest the importance of SHOX analysis in boys with Turner-like skeletal phenotype.