Vitamin D deficiency rickets presenting as pseudotumor cerebri

Area of Science:

• Pediatrics
• Neurology
• Endocrinology

Background:

• Pseudotumor cerebri (PTC) is characterized by elevated intracranial pressure without a detectable intracranial mass.
• Literature documents various associations with PTC, but its presentation in infants requires careful consideration.

Observation:

• A five-month-old female infant presented with symptoms suggestive of PTC, including a high cerebrospinal fluid opening pressure (330 mmH2O).
• Initial neurological and radiological evaluations, including CT scan, were normal, ruling out a space-occupying lesion.
• Investigations revealed severe vitamin D deficiency rickets as the underlying cause.

Findings:

• The infant's pseudotumor cerebri symptoms resolved rapidly following treatment with acetazolamide, calcitriol, and calcium supplements.
• The case highlights a rare but significant association between vitamin D deficiency rickets and elevated intracranial pressure in infancy.

Implications:

• This case underscores the importance of considering metabolic disorders, such as vitamin D deficiency, in the differential diagnosis of pseudotumor cerebri in infants.
• Early recognition and management of vitamin D deficiency can prevent serious neurological complications and ensure favorable outcomes.
• Further research may elucidate the specific mechanisms linking vitamin D deficiency to increased intracranial pressure in pediatric populations.