title: [Early type 2 neurofibromatosis and congenital retinal hamartoma].
abstract: Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells. It has long been regarded as an adolescent- and adult-onset disease. We report here on a case of a 6-year-old girl with infantile-onset clinical signs. The girl, who had a history of amblyopia and congenital retinal hamartoma, presented with rough dimness of visual acuity. Cerebral magnetic resonance imaging found a left voluminous fronto-temporal tumor including the chiasma and optical nerves. Vestibular and cervical nerve schwannomas were also found. She underwent a first neurosurgical partial excision and histopathology revealed meningioma. Postoperative radiotherapy was necessary due to a secondary increase of the tumor size. Subsequent molecular testing revealed a NF2 gene abnormality. NF2 can become evident in infancy but clinical early symptomatology is often different: ocular symptoms and neurological problems are common. There is no consensus on the treatment of tumors involving the central and peripheral nervous system, abstention being usual. In case of severe signs, surgery and radiotherapy can be proposed. The diagnosis of a hamartoma must lead to multidisciplinary follow-up.
authors.affiliation: Service de radiologie pédiatrique, hôpital pédiatrique, CHU Lenval, 57, avenue de la Californie, 06200 Nice, France. Electronic address: annelaure.herisse@gmail.com.
authors.forename: A-L
authors.initials: AL
authors.lastname: Hérissé
authors.affiliation: Service d'hématologie pédiatrique, hôpital Archet 2, CHU de Nice, 06200 Nice, France.
authors.forename: M
authors.initials: M
authors.lastname: Poirée
authors.affiliation: Service de radiologie pédiatrique, hôpital pédiatrique, CHU Lenval, 57, avenue de la Californie, 06200 Nice, France.
authors.forename: C
authors.initials: C
authors.lastname: Boyer
authors.affiliation: Service d'hématologie pédiatrique, hôpital Archet 2, CHU de Nice, 06200 Nice, France.
authors.forename: C
authors.initials: C
authors.lastname: Soler
authors.affiliation: Service de radiologie pédiatrique, hôpital pédiatrique, CHU Lenval, 57, avenue de la Californie, 06200 Nice, France.
authors.forename: B
authors.initials: B
authors.lastname: Leloutre
authors.affiliation: Service de radiologie pédiatrique, hôpital pédiatrique, CHU Lenval, 57, avenue de la Californie, 06200 Nice, France.
authors.forename: A
authors.initials: A
authors.lastname: Geoffray
mesh_terms: D002648:Child; D005260:Female; D006222:Hamartoma / Q000150:complications* / Q000151:congenital*; D006801:Humans; D016518:Neurofibromatosis 2 / Q000150:complications*; D012164:Retinal Diseases / Q000150:complications* / Q000151:congenital*