Idiopathic infantile hypercalcemia: case report and review of the literature.

The widespread use of supplemental vitamin D has dramatically reduced the incidence of rickets. While generally considered a safe practice, there is potential for toxicity in patients with idiopathic infantile hypercalcemia (IIH). Inadequate 24-hydroxylase-enzyme activity renders these individuals unable to degrade active vitamin D, resulting in hypercalcemia due to increased intestinal calcium absorption, decreased renal calcium excretion, and increased osteoclastic bone activity.

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

Objective: To study the NKX2-1 gene in two half-siblings with elevated thyroid-stimulating hormone (TSH) on state screen, prolonged neonatal respiratory distress despite term gestations, and persistent ataxia, dysarthria, and developmental delay.

Study Design: We amplified and sequenced DNA samples from blood or buccal swab for subjects and their unaffected siblings.

Results: The same mutation that prevents splicing together of exons 2 and 3 of the NKX2-1 gene was present in the affected siblings, their mother, and maternal grandmother but not in their unaffected siblings.

Growth hormone treatment and pseudotumor cerebri: coincidence or close relationship?

Pseudotumor cerebri (PTC) is an uncommon disorder in the pediatric population. It is not a benign condition. It can cause permanent vision loss.