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

Klinische Padiatrie

Volumn 221, Issue 4, 2009, Pages 247-250

  Tibussek, D ^a   Hubsch S ^b   Berger, K ^b   Schaper, J ^b   Rosenbaum, T ^c   Mayatepek, E ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c Children's Hospital   (Germany)

Author keywords

Congenital facial palsy; Neurofibromatosis; NF2; Peripheral neuropathy; Retinal hamartoma

Indexed keywords

ACOUSTIC NEURINOMA; ADOLESCENT; ADULTHOOD; AMBLYOPIA; ARTICLE; CASE REPORT; CLINICAL EVALUATION; CRANIAL NERVE PARALYSIS; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EVOKED AUDITORY RESPONSE; FACIAL NERVE PARALYSIS; FOOT DISEASE; FOOT DROP; GENETIC ANALYSIS; HEARING LOSS; HUMAN; HYPOGLOSSAL NERVE DISEASE; INFANCY; LIMB WEAKNESS; MALE; NERVE TUMOR; NEUROFIBROMATOSIS; RETINA HAMARTOMA; RETINA TUMOR; SYMPTOMATOLOGY; TINNITUS; VERTIGO; VESTIBULAR DISORDER; CAFE AU LAIT SPOT; CHILD; CHROMOSOME ABERRATION; CRANIAL NERVE TUMOR; DIFFERENTIAL DIAGNOSIS; DOMINANT GENE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENETICS; HAMARTOMA; INFANT; INNERVATION; LEG; MUSCLE WEAKNESS; NEURILEMOMA; NEUROMUSCULAR DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; RETINA DISEASE; VESTIBULOCOCHLEAR NERVE DISEASE;

ADOLESCENT; CAFE-AU-LAIT SPOTS; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CRANIAL NERVE NEOPLASMS; DIAGNOSIS, DIFFERENTIAL; FACIAL PARALYSIS; FLUORESCEIN ANGIOGRAPHY; FOLLOW-UP STUDIES; GENES, DOMINANT; HAMARTOMA; HUMANS; INFANT; INFANT, NEWBORN; LEG; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE WEAKNESS; NEURILEMMOMA; NEUROFIBROMATOSIS 2; NEUROMUSCULAR DISEASES; RETINAL DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES;

EID: 70350736758     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0028-1112155     Document Type: Article

References (10)

1. Baser ME, Friedman JM, Wallace AJ, et al. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 2002 10 59: 1759-1765
2. Baser ME, Friedman JM, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 2002 71 715-723
3. Bosch MM, Boltshauser E, Harpes P, et al. Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol 2006 141 1068-1077
4. Evans DG, Birch JM, Ramsden RT. Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child 1999 81 496-499
5. MacCollin M, Mautner VF. The diagnosis and management of neurofibromatosis 2 in childhood. Semin Pediatr Neurol 1998 5 243-252
6. Mautner VF, Tatagiba M, Guthoff R, et al. Neurofibromatosis 2 in the pediatric age group. Neurosurgery 1993 33 92-96
7. Nunes F, MacCollin M. Neurofibromatosis 2 in the pediatric population. J Child Neurol 2003 18 718-724
8. Ruggieri M, Iannetti P, Polizzi A, et al. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics 2005 36 21-34
9. Sperfeld AD, Hein C, Schroder JM, et al. Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 2002 125 996-1004
10. Syrbe S, Eberle K, Strenge S, et al. Neurofibromatosis type 1 and associated clinical abnormalities in 27 children. Klin Padiatr 2007 219 326-332