STAT5b gain-of-function disease in a child with mycobacterial osteomyelitis of the skull: rare presentation of an emerging disease entity.

Purpose: STAT proteins play a key role in several cellular functions related to cell development, differentiation, proliferation, and survival. Persistent STAT activation due to somatic STAT5b gain-of-function mutation is a rare mechanism of STAT dysregulation that results in hypereosinophilia, frequent infections, leukemias, and pulmonary diseases. Herein, we describe a case of a child with a rare early onset STAT5b gain-of-function disease treated with targeted JAK inhibition who developed a cranial Mycobacterium avium osteomyelitis.

Dual Myelomeningoceles in Twins: Case Report, Review, and Insights for Etiology.

Introduction: Despite folate supplementation, neural tube defects (NTDs) still occur in 0.5-1.0/1,000 pregnancies, with 30-50% not preventable with folate.

Surgical considerations in Labrune syndrome.

Purpose: Labrune syndrome (LS) is a rare white matter disease characterized by leukoencephalopathy with intracranial calcification and cysts (LCC). While the intracranial cyst characteristics of LS are for the most part stable, some may require surgical intervention when they develop associated hemorrhage and/or mass effect. To date, no review of the surgical outcomes of cyst decompression in LS has been performed.