Evidence of a developmental cerebello-cerebral disorder

Outcome of severe unilateral cerebellar hypoplasia

“…2 However the leftsided prevalence is not supported by the literature: in the 18 cases reported previously, UCH involved the right cerebellar hemisphere in seven patients and the left hemisphere in six patients (in five cases the side was not reported). The vermis was involved in two of eight patients in the literature (10 patients had no information about vermis involvement) 6,13 and in five patients in our series. This is in contrast to cerebellar clefts, another form of prenatal cerebellar disruption affecting only the cerebellar hemispheres.…”

“…29 Cognitive outcome was reported in only seven of the 18 previously reported cases (four patients were too young, two patients died in utero, and in five patients outcome was not described). [9][10][11][12][13] Normal cognitive development has been reported in three patients, although no IQ results were documented. [9][10][11] In two cases the vermis was normal; in one patient the involvement of the vermis was not described.…”

“…In other cases of UCH, learning disability of differing severity was reported, with IQ scores (if measured or documented) ranging between 60 and 74. 9,13 In one patient the vermis was hypoplastic; in the other patients the involvement of the vermis was not described. In our series four of the seven patients had a normal cognitive outcome.…”

“…Of the 18 cases described previously, follow-up data were reported for 11 patients (median age 3y, range 6mo-38y). 3,4,6,[8][9][10][11][12][13] At followup, three of the 11 patients had a squint, two patients had truncal ataxia and head nodding, and one patient had limb ataxia and muscular hypotonia. In our series typical symptoms are truncal or limb ataxia and muscular hypotonia: another finding may be head nodding.…”

“…1 In our experience, minor asymmetry of the cerebellar hemispheres is occasionally seen as an incidental finding without clinical significance whereas severe UCH is expected to be of clinical relevance. Previous descriptions of UCH have mostly been single case reports with a prenatal [3][4][5][6][7] or postnatal [8][9][10][11][12][13] diagnosis. The lack of outcome data available as a basis for well-founded prenatal counselling provided additional motivation for us to assess the prognosis of patients with UCH.…”