Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.10/876
Título: Cefalea en paciente con neurofibromatosis tipo 1
Outros títulos: Headache in patient with neurofibromatosis type 1
Autor: Herrero Valverde, A
Moiron Simões, R
Mera Campillo, J
Palma, T
Palavras-chave: Cefaleia
Neurofibromatose tipo 1
Malformação de Arnold-Chiari
Data: 2007
Editora: Sociedad Española de Neurología
Citação: Neurologia. 2007 Dec;22(10):911-4.
Resumo: INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome due to a mutation in chromosome 17 (at 17q11.2). The association of NF-1 with Arnold-Chiari I malformation has been previously described. CASE REPORT: A 23 year-old woman diagnosed of NF-1 based on the presence of cutaneous lesions and a familiar background consistent with this was referred to the neurologist due to oppressive frontooccipital bilateral headache that irradiated to both shoulders. It worsened on physical effort and Valsalva maneuver and had more than one year of evolution. Physical examination showed multiple café au lait spots in the trunk and cutaneous neurofibromas in the cervico-dorsal region, as well as short height and mild dorsal scoliosis. Neurological examination showed hyperreflexia in both legs and slight light touch and pinprick hyposthesia in the left arm. The magnetic resonance findings suggested Arnold - Chiari I malformation with associated cervical syrinx, without any other abnormalities in the central nervous system. She underwent surgery, with partial improvement of the symptoms. CONCLUSION: The association between NF-1 and Arnold- Chiari I malformation seems to be more than coincidental. The abnormalities of the embrionary development secondary to NF-1 would be responsible for the posterior fossa hypoplasia found in Arnold-Chiari malformation. Our case focuses on the idea that Arnold- Chiari malformation should be included in the list of abnormalities reported in NF-1.
Peer review: yes
URI: http://hdl.handle.net/10400.10/876
ISSN: 1578-1968
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