Nutritional vitamin D deficiency presenting as hemichorea

Area of Science:

• Pediatric Cardiology
• Nutritional Deficiencies
• Gastroenterology

Background:

• Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect requiring surgical repair.
• Post-surgical complications can include malabsorption and nutritional deficiencies.
• Protein-losing enteropathy (PLE) is a rare but serious complication associated with various conditions, including congenital heart disease.

Observation:

• A pediatric patient with a history of repaired HLHS presented with symptoms of PLE, including hypoalbuminemia, hypocalcemia, and vitamin D deficiency.
• The patient also developed hemichorea, a movement disorder characterized by involuntary, irregular, and jerky movements.
• These symptoms collectively indicated significant metabolic and nutritional disturbances secondary to PLE.

Findings:

• Correction of nutritional vitamin D deficiency through calcium and vitamin D supplementation led to the resolution of hemichorea.
• Hypoalbuminemia significantly improved following vitamin D repletion, obviating the need for albumin infusions.
• The study suggests a potential link between vitamin D and calcium levels and the intestinal loss of albumin in patients with PLE.

Implications:

• This case highlights the importance of screening for and managing nutritional deficiencies, particularly vitamin D and calcium, in pediatric patients with repaired HLHS and PLE.
• The findings suggest that optimizing vitamin D and calcium levels may play a therapeutic role in managing hypoalbuminemia associated with PLE.
• Further research is warranted to elucidate the precise mechanisms by which calcium and vitamin D influence albumin metabolism and intestinal protein loss in this patient population.