Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

The Cerebellum
Sandra P ToelleEugen Boltshauser

Abstract

Unidentified bright objects (UBO) and tumors are well-known cerebellar abnormalities in neurofibromatosis type 1 (NF1). Literature reports on malformative cerebellar anomalies in neurofibromatosis type 1 (NF1), however, are scant. We retrospectively studied the clinical and neuroimaging findings of 5 patients with NF1 (4 females, age 6 to 29 years at last follow-up) and cerebellar anomalies. Cerebellar symptoms on neurological examination were mild or even not evident whereas learning disabilities were more or less pronounced in four patients. Two patients had cerebellar hypoplasia (diffusely enlarged cerebellar interfoliar spaces) and three cerebellar dysmorphias involving mainly one cerebellar hemisphere. In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as optic pathway gliomas, other tumors, and UBO. This kind of cerebellar anomaly in NF1 has most likely a malformative origin, but the exact pathogenesis is unknown. The individual clinical significance is difficult to determine. We suggest that cerebellar anomalies should be systematically evaluat...Continue Reading

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Citations

Sep 4, 2015·Cerebellum & Ataxias·Andrea Poretti, Eugen Boltshauser
Jul 18, 2016·Neuroimaging Clinics of North America·Thangamadhan BosemaniAndrea Poretti
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Mar 15, 2018·Archives of Disease in Childhood·Geetha AnandDorothy Halliday
Apr 10, 2019·Acta Neuropathologica·J Stephen NixFausto J Rodriguez

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