Presenting symptoms in children with neurofibromatosis type 2
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ANNUAL ISSUE PAPER
Presenting symptoms in children with neurofibromatosis type 2 Isabel Gugel 1,2 & Florian Grimm 1 & Christian Teuber 1 & Julian Zipfel 1,2,3 & Marcos Tatagiba 1,2 & Victor-Felix Mautner 2,4 & Martin Ulrich Schuhmann 1,2,4 & Lan Kluwe 4,5 Received: 10 May 2020 / Accepted: 4 June 2020 # The Author(s) 2020
Abstract Purpose The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. Therefore, early diagnosis in pediatric patients without family history of NF2 has to be made by signs and symptoms not related to VS which will be reviewed in this study. Methods A total of 70 children diagnosed for NF2 at an age of < 18 years were identified from our patient cohort. Age and symptoms, signs and pathology at symptom onset, age at NF2 diagnosis and symptoms leading to diagnosis as well as genetic findings were retrospectively reviewed. Results The average age at symptom/sign onset was 8 ± 6 (range 0–17) years and 11 ± 5 (range 1–17) years at time of diagnosis. Fifteen children had a positive family history and were diagnosed upon additional clinical symptoms. The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). VS were not only the most common symptomatic neoplasm but also the most frequent pathological evidence for the diagnosis (72%). In 42 patients with available genetic testing results, pathogenic mutations were most frequently identified (n = 27). Conclusion The presenting symptoms in NF2 children appear “unspecific” or less specific for classical NF2 compared with adult NF2 patients, posing a challenge particularly for cases without family history. In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. Keywords Neurofibromatosis type 2 . Vestibular schwannoma . Presenting symptom . Pediatric
Introduction The genetic tumor predisposition syndrome neurofibromatosis type 2 (NF2) is a rare disease with a prevalence of 1:56.000 and an incidence of 1 case in 33,000 to 40,000
* Isabel Gugel [email protected] 1
Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany
2
Centre of Neurofibromatosis, Centre of Rare Disease, University Hospital Tübingen, Tübingen, Germany
3
Division of Pediatric Neurosurgery, University Hospital Tübingen, Tübingen, Germany
4
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
5
Department of Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
live births per year [1, 2]. It is caused by the inactivation of the NF2 tumor suppressor gene located on chromosome band 22q12.2 [3, 4]. Patients exhibit benign tumors of the central and peripheral nervous system (e.g., schwannomas, menin
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