Early infantile sensory-motor neuropathy with late onset respiratory distress

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Spinal muscular atrophy with respiratory distress (SMARD1) is a severe genetic disorder typically presenting in infancy.
• Key features include diaphragmatic paralysis leading to respiratory failure and progressive distal limb weakness.

Observation:

• A case report details a child with compound heterozygous IGHMBP2 mutations (c.[676G>T];[2083A>T]).
• This patient exhibited severe sensory-motor neuropathy nearly three years before diaphragmatic paralysis.
• Autonomic dysfunction, including neurogenic bladder and urine retention, was observed at age three.

Findings:

• The patient's phenotype demonstrates a broader spectrum than typically described for SMARD1.
• Genotype-phenotype correlations remain challenging, suggesting unidentified factors influence disease presentation.
• SMARD1 should be considered in infantile-onset neuropathies, even without apparent diaphragmatic weakness.

Implications:

• This case broadens the understanding of SMARD1 phenotypic variability.
• Early consideration of SMARD1 is crucial for timely diagnosis and management in infants with severe neuropathies.
• Advanced sequencing technologies may aid in diagnosing heterogeneous inherited neuropathies.