Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.
Eur J Pediatr
; 173(12): 1691-4, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-24706162
ABSTRACT
UNLABELLED We describe a 5-year-old girl with marked hypotonia, poor feeding and reduced facial expression since birth. Congenital myopathy was suspected; muscle biopsy showed unspecific type 1 fibre predominance. The possibility of a ryanodine receptor 1 gene (RYR1)-associated myopathy was considered, but not further investigated. At the age of 2 years, she presented with exophthalmos. Brain MRI revealed optic pathway glioma. On clinical examination, she had six café-au-lait spots, thus fulfilling the diagnostic criteria for neurofibromatosis type 1 (NF1). The hypotonia was then attributed to NF1. At the age of 3 years, she developed scoliosis and had an unusually severe motor delay for NF1, as she was not able to walk independently. Dual pathology was suspected, and muscle MRI showed the typical pattern for RYR1-related myopathy. This was genetically confirmed with the discovery of two heterozygous mutations. CONCLUSION:
NF1 is one of the most frequent genetic diseases in children. RYR1-related myopathy is one of the most frequent causes of congenital myopathy. The combination of these two pathologies has not yet been described. In cases of unusual presentations or clinical course, the possibility of genetic "double trouble" should be considered.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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DNA
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Genes da Neurofibromatose 1
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Neurofibromatose 1
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Canal de Liberação de Cálcio do Receptor de Rianodina
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Mutação de Sentido Incorreto
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Miopatia da Parte Central
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Eur J Pediatr
Ano de publicação:
2014
Tipo de documento:
Article