Nutritional rickets masquerading as spinal muscular atrophy type III

Area of Science:

• Pediatric Neurology
• Metabolic Bone Disease

Background:

• Muscle atrophy, weakness, and gait abnormalities in children often suggest progressive neuromuscular diseases.
• Neuromuscular disorders are a primary consideration in the differential diagnosis for these symptoms.

Observation:

• A 33-month-old boy presented with gait abnormality, initially evaluated for spinal muscular atrophy type III due to absent reflexes and prior ambulation.
• Extensive genetic workup for neuromuscular disorders was inconclusive.

Findings:

• The child's symptoms were ultimately attributed to severe nutritional rickets, caused by poor diet and limited sun exposure.
• Rickets presentation mimicked a neuromuscular disorder, specifically spinal muscular atrophy type III.

Implications:

• This case underscores the importance of including nutritional rickets in the differential diagnosis for pediatric muscle atrophy and loss of ambulation.
• Broadening the diagnostic scope beyond purely neuromuscular conditions can lead to timely and appropriate interventions for children with these symptoms.