Near-total absence of the cerebellum.
We report five cases of near-total absence of the cerebellum with accompanying pontine hypoplasia. The cerebellar remnant in each case comprised only antero-superior masses, the posterior fossa being otherwise fluid filled. Three of these patients, two teenagers and an infant, presented a fairly consistent clinical and neuroradiological phenotype, and a few similar cases are recorded in the literature. The cerebellar remnant was irregular and asymmetrical, and no ventral pontine prominence was discernible. In at least the older two, cerebellar motor functions were not greatly compromised, and intellectual handicap was of a mild degree. We propose that these cases represent a distinct entity of "near-total absence of the cerebellum with flat ventral pons, and relatively mild clinical affection". All cases have been sporadic, implying that the risk of recurrence within a family may be low. Quite different clinical pictures, of considerably greater severity, are demonstrated in the remaining two cases. One had pontocerebellar hypoplasia type 2, while the other had a complex cerebellar and cerebral malformation.
Gardner
R J
RJ
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia. gardner@cryptic.rch.unimelb.edu.au
Coleman
L T
LT
Mitchell
L A
LA
Smith
L J
LJ
Harvey
A S
AS
Scheffer
I E
IE
Storey
E
E
Nowotny
M J
MJ
Sloane
R A
RA
Lubitz
L
L
D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D011149:Pons / Q000002:abnormalities / Q000473:pathology; D011247:Pregnancy; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D014429:Twins, Dizygotic / Q000235:genetics; D016216:Ultrasonography, Prenatal