[A cause of intracerebral calcifications that should be known: pseudohypoparathyroidism Ib]

Area of Science:

• Pediatric Endocrinology
• Neurology
• Radiology

Background:

• Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by resistance to parathormone (PTH).
• It commonly presents with hypocalcemia, which can be symptomatic, and is a known cause of basal ganglia calcifications in children.

Observation:

• A 13-year-old boy presented with hypocalcemia and seizures, indicative of PHP.
• Cerebral CT scan revealed calcifications in the basal ganglia.

Findings:

• The case highlights type Ib PHP as a cause of basal ganglia calcifications and seizures in a pediatric patient.
• This underscores the importance of considering PHP in the differential diagnosis of basal ganglia calcifications.

Implications:

• Emphasizes the need for prompt investigation of basal ganglia calcifications on CT scans to identify potential cases of PHP.
• Early diagnosis and management of PHP can prevent severe complications associated with hypocalcemia and neurological manifestations.