April 30, 2012 (CASE 2)
CASE 2 12-year-old girl with history of seizures, short stature, and short metacarpals.
Pseudohypoparathyroidism
- Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biological activity of PTH.
- Clinical features include rounded face, short stature, shortened fourth metacarpals and other bones of the hands and feet, obesity, dental hypoplasia, and soft-tissue calcifications/ossifications.
- Key Diagnostic Features: Bilateral (usually symmetric) calcification within the basal ganglia, periventricular white matter, and cerebellum (often the dentate nuclei). In addition, such bilateral symmetric calcification can sometimes be seen within the thalami and the cortex. Also, soft tissue calcification will be seen.
- DDx: Hyperparathyroidism, hypoparathyroidism, Fahr's disease, Cockayne's syndrome, Aicardi-Goutieres syndrome, normal aging
- Rx: Calcium and Vitamin D supplements; low phosphorus diet and phosphate binders if blood phosphate levels remain high.
