Cerebellar defect associated with Schimke immuno-osseous dysplasia.
We report the finding of an absent cerebellar hemisphere and partial absence of the cerebellar vermis in a child with dysmorphic features, spondyloepiphyseal dysplasia, steroid resistant nephrotic syndrome secondary to focal segmental glomerulosclerosis and T-cell lymphopenia (Schimke immuno-osseous dysplasia). These findings have not, to our knowledge, been described before and are likely to represent the consequence of a vascular event either in-utero or in early infancy.


CONCLUSIONS
Cerebral imaging should be performed early in the course of the disease and should be repeated if further neurological events develop.
Dhillon
A S
AS
Department of Nephrology, Birmingham Children's Hospital NHS Trust, UK.
Chapman
S
S
Milford
D V
DV
D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D010009:Osteochondrodysplasias / Q000473:pathology*; D013577:Syndrome