A ten-year-old girl presented with an eight-year history of non-progressive gait instability, frequent falls, and delayed learning skills since the first year. There was no consanguinity. Neurological examination showed gait ataxia, cognitive impairment, and horizontal gaze palsy. Renal and hepatic tests were normal. Brain Magnetic Resonance Imaging (MRI) showed left cerebellar hypoplasia (Figure).
(A) Axial T2-weighted brain MRI showing cerebellar hypoplasia of the left hemisphere and cerebellar vermis; (B) Coronal T2-weighted brain MRI, disclosing hypoplasia of the inferior left cerebellar hemisphere.
Cerebellar malformations comprise a heterogeneous group of neurological conditions and include Joubert syndrome, Dandy-Walker, cerebellar hypoplasia, cerebellar agenesis, posterior fossa cysts, and others.11. Steinlin M. Non-progressive congenital ataxias. Brain Dev 1998;20:199-208. Unilateral cerebellar hypoplasia is a rare syndrome encompassing a spectrum that ranges from complete aplasia to asymmetric hypoplasia. Some causes may include: prenatal cerebellar insult (such as hemorrhage), PHACES syndrome or other genetic etiologies.22. Poretti A, Limperopoulos C, Roulet-Perez E, et al. Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol 2010;52:718-724.
References
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1Steinlin M. Non-progressive congenital ataxias. Brain Dev 1998;20:199-208.
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2Poretti A, Limperopoulos C, Roulet-Perez E, et al. Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol 2010;52:718-724.
Publication Dates
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Publication in this collection
Mar 2013
History
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Received
28 Aug 2012 -
Received
21 Sept 2012 -
Accepted
28 Sept 2012