Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop.

BACKGROUND: Neurofibromatosis type 2 (NF2) has long been regarded as an adult onset disease. However, it is now known that many NF2 patients present clinical signs and symptoms in early childhood. We here report an illustrative case of a male adolescent with an infantile onset clinical symptomatology.

PATIENT: A 15-year-old male adolescent presented with a history of congenital peripheral facial palsy, amblyopia, a retinal "membrane", and weakness of the left lower limb. Clinical, electrophysiological, radiological, and molecular studies of the patient are shown. A peripheral axonal neuropathy of the left lower limb was found. Formerly unidentified retinal findings could be diagnosed as combined pigment epithelial, and retinal hamartoma (CPERH). In addition, two café au lait spots and a nodular skin tumour were found. Bilateral vestibular schwannoma finally led to the diagnosis of NF2, which could be genetically confirmed.

CONCLUSIONS: NF2 can already become evident in infancy. While in adulthood tinnitus, hearing loss and vestibular symptoms are the classical signs, these are often absent in the paediatric group. Children rather have ocular symptoms, neurological problems such as cranial nerve palsies other than eighth nerve, limb weakness and skin manifestations as early clinical signs.