Keratitis, ichthyosis, and deafness (KID) syndrome with cerebellar hypoplasia.
A 6-year-old boy with features of the keratitis-ichthyosis-deafness (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia. This finding, together with neurosensory deafness and other neuromuscular defects, may suggest that there is an underlying inborn error of nervous system in the KID syndrome. In vitro immunologic studies in this patient also showed a possible deficit in cellular immunity.
Hsu
H C
HC
Department of Dermatology, Veterans General Hospital-Taichung, Taiwan, Republic of China.
Lin
G S
GS
Li
W M
WM
D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D003638:Deafness / Q000150:complications*; D006801:Humans; D007057:Ichthyosis / Q000150:complications*; D007154:Immune System Diseases / Q000150:complications; D007634:Keratitis / Q000150:complications*; D008297:Male; D009468:Neuromuscular Diseases / Q000150:complications; D013577:Syndrome