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Keratitis, Ichthyosis, and Deafness (KID) Syndrome With Cerebellar Hypoplasia
Author(s) -
Hsu HuanChang,
Lin GuanShayn,
Li WeiMin
Publication year - 1988
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4362.1988.tb01266.x
Subject(s) - medicine , cerebellar hypoplasia (non human) , hypoplasia , ichthyosis , cerebellum , pathology , abnormality , dermatology , anatomy , psychiatry
A 6‐year‐old boy with features of the keratitis‐ichthyosis‐deafness (KID) syndrome 1 and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, 2 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.