Presenting symptoms and clinical features for the 32 sporadic cases separated by presentation type to illustrate the multisystemic nature of sporadic paediatric NF2 and predominance of eye, neurological and dermatological features
| Age at presentation Median (range) | Age at diagnosis Median (range) | Visual impairment | Ptosis | Nystagmus | Squint | Optic meningioma | Epiretinal membrane, cataract or retinal hamartoma | Cranial nerve palsy | Scoliosis | Seizures | Wasting/weakness/gait abnormality | Hypopigmentation | Hyperpigmentation | Skin lumps/NF2 plaque | Hearing loss | Imbalance | Raised ICP* | Number with unusual features | Mean number of system† |
| Acute presentations, n=2 | |||||||||||||||||||
| 2 (2–2) | 3.4 (2.8–4) | 1 | – | – | 1 | – | – | 1‡ | – | 1 | 1 | – | 1 | 1 | – | – | 2 | 1†† | 2 |
| Eye-related presentation, n=16 | |||||||||||||||||||
| 1.75 (0–13) | 10.5 (1–16) | 15 | 2 | 3 | 6 | 4 | 8 | 6§ | 2 | 4 | 3 | 2 | 7 | 8 | 4 | – | – | 13‡‡ | 2.5 |
| Neurological-related presentation, n=8 | |||||||||||||||||||
| 6.5 (1–15) | 8 (1–16) | 2 | 1 | – | – | 1 | 4 | 5¶ | – | 2 | 4 | – | 3 | 4 | - | - | - | 4§§ | 2.25 |
| Dermatological, n=4 | |||||||||||||||||||
| 8 (3–13) | 10 (6–14) | 3 | – | – | – | – | 3 | 1** | 1 | – | – | 1 | 1 | 4 | – | – | – | 2¶¶ | 2.25 |
| VS/hearing-related, n=2 | |||||||||||||||||||
| 13.5 (12–15) | 14.5 (14–15 | 1 | – | – | 1 | – | – | – | – | – | – | – | – | – | 2 | 2 | 1 | 1*** | 2 |
*Vomiting and unsteadiness (underlying tumour: intraventricular meningioma (n=1), posterior fossa meningioma (n=1), pilocytic astrocytoma (n=1)).
†Including ocular, neurological, dermatological and vestibular.
‡Transient VI.
§III, VI, VII, lower cranial nerve.
¶III, VII.
**Lower cranial nerve.
††Pilocytic astrocytoma, optic atrophy, retinal granuloma, attention deficit hyperactivity disorder.
‡‡Pilocytic astrocytoma, optic atrophy (n=2), macular scarring, retinal detachment, congenital myopia, optic nerve morning glory syndrome, relative afferent pupillary defect, iris anomalies, microphthalmia, dysplastic optic disc/optic nerve hypoplasia (n=3), cerebellar hypoplasia, focal cortical dysplasia (n=3), prominence of perivascular spaces and loss of white matter, renal vascular disease, coarctation of aorta, macrodactyly finger.
§§Cerebellar hypoplasia, focal cortical dysplasia (n=2), cerebellar hamartoma, congenital hip dysplasia, calcified choroid plexus.
¶¶Cerebellar hypoplasia, mild learning difficulty.
***Learning difficulty associated with ch22 del.
ICP, intracranial pressure; NF2, neurofibromatosis type 2; VS, vestibular schwannoma.