Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

Autor: Scola Rosana Herminia, Werneck Lineu Cesar, Iwamoto Fabio Massaiti, Ribas Letícia Cristine, Raskin Salmo, Correa Neto Ylmar
Jazyk: angličtina
Rok vydání: 2001
Předmět:
Zdroj: Arquivos de Neuro-Psiquiatria, Vol 59, Iss 2A, Pp 259-262 (2001)
ISSN: 1678-4227
Popis: We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.
Databáze: OpenAIRE