Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency

Area of Science:

• Genetics and rare diseases
• Pediatric endocrinology
• Neurology

Background:

• Carbonic anhydrase II deficiency is a rare autosomal recessive disorder.
• It classically presents with renal tubular acidosis, intracerebral calcifications, and osteopetrosis.

Observation:

• A 6-year-old male with poor growth, global developmental delay, fractures, and constipation was evaluated.
• Brain CT revealed symmetrical basal ganglia, thalamic, and subcortical white matter calcifications, with osteopetrosis-like bone density.
• Arterial blood gases confirmed metabolic acidosis.

Findings:

• The patient's presentation and diagnostic findings confirmed carbonic anhydrase II deficiency.
• The diagnostic triad of renal tubular acidosis, intracerebral calcifications, and osteopetrosis was fulfilled.

Implications:

• This case underscores the importance of recognizing the diverse clinical manifestations of carbonic anhydrase II deficiency.
• Timely diagnosis and management, including sodium bicarbonate and vitamin D3 supplementation, are vital for patient care.
• Further research into carbonic anhydrase II deficiency can improve understanding and treatment strategies.