Paediatric phenotype of Neurofibromatosis Type 2
Thank you for taking the time to fill in this questionnaire. Please feel free to provide any extra information either at the end of the form or in a separate sheet making sure that there are no patient identifiable details. Completed forms should be emailed to Dr Geetha Anand at
CLINICIAN DETAILS / PATIENT DETAILSName:
Hospital:
Email id: / Gender: Initials:
Year/Month of birth:
Ethnicity:
Age at symptom onset:
Age at presentation if different from above:
Age at diagnosis:
Year of diagnosis:
To which speciality did the child initially present? (Please circle as appropriate)
Ophthalmology Paediatrics Paediatric Neurology Genetics Neurosurgery
Dermatology Other (please describe): ------
Diagnosis made as a result of presymptomatic genetic testing following a positive family history: Yes/No
If yes, were there any signs/symptoms on examination (please describe): ------
Diagnosis made as a result of presymptomatic radiographic screening following a positive family history: Yes/No
If yes, please specify details/criteria for diagnosis: ------
Diagnosis made following a presenting clinical feature: Yes/No
If yes, please circle from the lists outlined below:
Symptoms:
Ocular / Nystagmus Squint Visual impairment PtosisNeurological / Seizures Weakness Headaches Deafness Tinnitus Paraesthesia Facial palsy Footdrop
Learning difficulty
Skin / Pigmentation lumps
Systemic / Respiratory symptoms dysphagia
Others (please describe)
Underlying NF2 clinical feature:
Ocular / Retinal hamartoma Posterior subcapsular cataract Optic meningioma Optic glioma Epiretinal membrane Horner’s syndrome Choroidal hamartoma Lisch nodulesOrbital Schwannoma Ptosis
Neurological / Vestibular schwannoma(unilateral/bilateral) Schwannoma of other cranial nerves Meningioma Glioma Neuropathy (mono/poly) Neurinoma Spinal Schwannoma
Skin / Schwannoma Other tumours Cafe au lait macules Plaques
Gastrointestinal / Plexiform schwannoma of oesophagus
Respiratory / Pulmonary meningioma
Cardiovascular / Hypertension
Renal / Renal artery stenosis
Other/please describe
GENETICS: (Please circle as appropriate) Familial/Sporadic:
If familial, please specify who the index case was:
If sporadic, was a mutation detected: Yes/No
If yes, please specify the mutation: ------
TREATMENT: (Please circle and give details as appropriate including age of intervention)
Intervention / Yes/No (Y/N) / If yes, please give details including age:- Neurosurgical
- Cochlear Implant
- Gamma Knife
- Avastin
- Other surgical
- Other Chemotherapy
- Other Radiotherapy
CURRENT STATUS: (Please circle as appropriate)
Visual impairment Hearing impairment Learning difficulty Abnormal ambulation
Other (please describe):------
FOLLOW UP IN PLACE: (Please circle as appropriate)
NCG NF2 service: Yes/No
Other (Please describe):------
Additional details (if relevant):