Pulmonary hypertension associated with scurvy and vitamin deficiencies in an autistic child

Area of Science:

• Pediatric Cardiology
• Nutritional Neuroscience
• Developmental Pediatrics

Background:

• Restricted dietary intake is frequently observed in children with behavioral challenges.
• Autism Spectrum Disorder (ASD) can be associated with selective eating and nutritional deficiencies.

Observation:

• A severely autistic child presented with limp, progressing to cough, tachypnea, hypoxia, and tachycardia.
• Echocardiography indicated severe pulmonary hypertension (PH) with right ventricular dilation and elevated pressures.

Findings:

• Laboratory tests revealed profound deficiencies in ascorbic acid (vitamin C), thiamine (vitamin B1), pyridoxine (vitamin B6), cobalamin (vitamin B12), and vitamin D.
• Vitamin repletion therapy led to the resolution of PH and musculoskeletal symptoms.

Implications:

• This case highlights the importance of considering severe nutritional deficiencies in the differential diagnosis of limp in children, especially those with behavioral issues.
• It suggests an unusual association between severe vitamin deficiencies and the development of pulmonary hypertension in pediatric patients.
• Early identification and treatment of vitamin deficiencies are crucial for managing complex pediatric conditions.