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Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population
  1. Geetha Anand1,
  2. Grace Vasallo2,
  3. Maria Spanou2,
  4. Saumya Thomas1,
  5. Michael Pike3,
  6. Didu Sanduni Kariyawasam3,
  7. Sanjay Mehta1,
  8. Allyson Parry4,
  9. Juliette Durie-Gair5,
  10. James Nicholson6,
  11. Karine Lascelles7,
  12. Vanessa Everett7,
  13. Frances Mary Gibbon8,
  14. Nicola Jarvis9,
  15. John Elston10,
  16. Dafydd Gareth Evans9,
  17. Dorothy Halliday11
  1. 1 Department of Paediatrics, Oxford Children’s Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  2. 2 Department of Paediatric Neurology, Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford, UK
  3. 3 Department of Paediatric Neurology, Oxford Children’s Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  4. 4 Department of Neurosciences, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  5. 5 Department of ENT, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  6. 6 Department of Paediatric Oncology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  7. 7 Department of Paediatric Neurology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
  8. 8 Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK
  9. 9 Genomic Medicine, Division of Evolution and Genomic Sciences, MAHSC, University of Manchester, St Mary’s Hospital, Manchester, UK
  10. 10 Department of Ophthalmology, Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  11. 11 Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK
  1. Correspondence to Dr Dorothy Halliday, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Hospital, Windmill Rd, Oxford University Hospitals NHS Trust, Oxford, UK; dorothy.halliday{at}ouh.nhs.uk

Abstract

Objective Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation.

Design Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service.

Results Epidemiological data estimate that 1 in 110 611 births are affected with childhood-onset NF2. Notes of 32 patients with sporadic NF2 were reviewed. Of those presenting under the age of 5, 89% (17/19) had ocular, 74% (14/19) dermatological and 58% (11/19) neurological signs; in 84% (16/19) features were multisystemic. Sixty-six per cent (21/32) had ≥1 atypical feature, including cerebellar hypoplasia in three cases (9%) and focal cortical dysplasia in five out of seven seizure-related presentations. Five cases presented with a sometimes transient or intermittent cranial nerve mononeuropathy. The mean delay to diagnosis was 3.16 years; in eight cases (25%) this exceeded 6 years. Most significant delay occurred in mononeuropathy, ophthalmological and/or seizure presentations, with a mean delay of 3, 4.5 and 6 years, respectively. Eighty-four per cent (27/32) of cases needed intervention in childhood.

Conclusions All non-vestibular schwannoma NF2 presentations in childhood had significant diagnostic delay. We emphasise the importance of detailed assessment of skin and eyes in unusual presentations and propose an aide to prompt timely referral to specialist services.

  • neurofibromatosis type 2
  • Nf2
  • paediatrics
  • sporadic

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Footnotes

  • Contributors Study design/writing of the manuscript was by GA, MP and DH, with suggestions from AP. Data were collected and analysed by GA, ST and DH. GV, MS, JD-G, JN, KL, VE, FMG and NJ provided completed clinical questionnaires. DGE offered data and expertise. JE provided expertise on the eye findings. SM, DSK, JN, DGE, JE and KL contributed to drafting and revision of the manuscript.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval The study was approved by the British Paediatric Neurology Surveillance Unit (BPNSU) Executive Committee and the National Research Ethics Service (NRES) Committee-South-West (12/SW/0042).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement Data on familial NF2 cases collected as part of this study will be presented separately.

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