Pseudohypoparathyroidism presenting as severe Parkinsonism

Area of Science:

• Endocrinology
• Neurology
• Radiology

Background:

• Pseudohypoparathyroidism is a rare genetic disorder characterized by resistance to parathyroid hormone.
• It often presents with hypocalcemia and hyperphosphatemia, leading to various clinical manifestations.

Observation:

• A middle-aged female presented with severe Parkinsonism, a neurological condition typically associated with dopamine deficiency.
• Initial investigations, including skull X-rays, did not reveal basal ganglia calcification.

Findings:

• Computed axial tomography (CT) scans revealed calcification of the basal ganglia, which was not evident on plain radiography.
• Correction of serum calcium levels resulted in a marked improvement in the patient's Parkinsonian symptoms and signs.

Implications:

• This case highlights the potential for pseudohypoparathyroidism to manifest as severe Parkinsonism, emphasizing the importance of metabolic evaluation in neurological diagnoses.
• It underscores the utility of advanced neuroimaging techniques like CT in detecting basal ganglia calcification.
• Prompt management of hypocalcemia can lead to significant clinical improvement in patients with pseudohypoparathyroidism presenting with neurological symptoms.