Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.
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 evaluated in neuroimaging studies of NF1 patients.
Department of Pediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
Sandra P
SP
Toelle
Department of Pediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.|Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Andrea
A
Poretti
Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Basel, Switzerland.
Peter
P
Weber
Department of Neurology and Neurosurgery, University Medical Center, Utrecht, The Netherlands.
Tatjana
T
Seute
Department of Neuro-Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Jacoline E C
JE
Bromberg
Department of Diagnostic Imaging, University Children's Hospital, Zurich, Switzerland.
Ianina
I
Scheer
Department of Pediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland. Eugen.Boltshauser@bluewin.ch.
Eugen
E
Boltshauser
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002658:Developmental Disabilities / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology; D012189:Retrospective Studies; D055815:Young Adult
Cerebellar dysmorphia; Cerebellar hypoplasia; Cerebellum; Neurofibromatosis type 1; Neuroimaging