Paediatric Phenotype of Neurofibromatosis Type 2

Paediatric Phenotype of Neurofibromatosis Type 2

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 DETAILS
Name:
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 Ptosis
Neurological / 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 nodules
Orbital 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
/ Y/N
  • Cochlear Implant
/ Y/N
  • Gamma Knife
/ Y/N
  • Avastin
/ Y/N
  • Other surgical
/ Y/N
  • Other Chemotherapy
/ Y/N
  • Other Radiotherapy
/ Y/N

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):

Top View