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[Lethal nemalinic myopathy and congenital arthrogryposis]
E Martínez-Salcedo1, T Lloret, J L Tarazona
1Servicio de Pediatría, Hospital General Universitario de Alicante, Alicante, España. martinez_edu@gva.es
Introduction:
Nemalinic myopathy (NM) is a non progressive congenital disorder of skeletal muscle, characterized by rod like formations present in muscle fibres, whilst congenital multiple arthrogryposis (CMA) is a syndrome characterized by contractures and articular rigidity which may be due to many causes, including NM.
Clinical Case:
A boy of 0 h of premature life, with CMA was assessed on the suspicion of neuromuscular disease with normal preliminary studies. Muscle biopsy eventually showed the typical rod like formations of NM. The clinical course was unsatisfactory and he died at the age of five months from respiratory problems.
Conclusions:
Diagnosis of NM requires a high index of suspicion and muscle biopsy. At the present time genetic counselling cannot be given after a sporadic case.