engleski

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in IGHMBP2 gene

We present a boy at the age of 4 months with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Oligohydramnion was registered during pregnancy. Mild hypotonia, weak cry and calcaneovalgus foot deformity were present at birth. He manifested mild delay in psychomotor development and convulsions. On exam he presented with myopathic face, respiratory difficulties, generalized hypotonia, weak cry, opistotonic posture, absent distal tendon reflexes and reduced spontaneous movements. Electromyoneurography showed severe neurogenic lesion more pronounced distally, absent compound evoked potentials on peroneal nerves, decreased nerve conduction on upper extremities and prolonged distal latencies. Muscle biopsy showed neurogenic atrophy, while sural nerve biopsy was normal. Brain MR scans showed delayedmyelination of white matter. Genetic analysis by sequencing the gene encoding immunoglobulin m-binding protein (IGHMBP2 ; chromosome 11q13.2-q13.4) found the previously reported stop codon mutation 388C/T (R130X) in exon 3 and a novel point mutation 1743A/C (R581S) in exon 12 of IGHMBP2. Polymorphism has been excluded. Patient developed respiratory insufficiency at the age of 4 months and was artificially ventilated until he died at the age of 6 months. Delayed CNS maturation might occur in SMARD1 patient associated with mutation R581S in IGHMBP2 gene.

SMARD; CNS myelination

nije evidentirano