Cerebellar atrophy in Schimke-immuno-osseous dysplasia.
Schimke-immuno-osseous dysplasia is an autosomal-recessive multisystem disorder with the prominent clinical features disproportionate growth failure, progressive renal failure, and T-cell immunodeficiency. Neurological symptoms caused by transient ischemic attacks (TIAs) and strokes are a typical clinical finding in severe SIOD. Cerebral ischemia and white matter changes, moyamoya phenomena and absence of a cerebellar hemisphere and partial absence of the cerebellar vermis have been described in patients with severe SIOD. We present three SIOD patients with atrophy of the caudal parts of the cerebellar vermis (posterior lobule) and of the cerebellar hemispheres. We hypothesize that these cerebellar abnormalities are a continuum of the ongoing vascular disease in severe SIOD.
Lücke
Thomas
T
Department of Pediatrics, Hannover Medical School, Hannover, Germany. luecke.thomas@mh-hannover.de
Clewing
Johanna M
JM
Boerkoel
Cornelius F
CF
Hartmann
Hans
H
Das
Anibh M
AM
Knauth
Michael
M
Becker
Hartmut
H
Donnerstag
Frank
F
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics*; D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities* / Q000098:blood supply; D002648:Child; D004265:DNA Helicases / Q000096:biosynthesis / Q000235:genetics; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009404:Nephrotic Syndrome / Q000235:genetics
C412482:SMARCAL1 protein, human; D004265:DNA Helicases