Anti-PTH monoclonal antibody, clone FQS0040

Purpose of Review Although common, post-traumatic headache (PTH) in the pediatric population is a niche group with a paucity of published evidence on the diagnosis, most appropriate acute and preventative management, and prognosis. This article aims to review pediatric PTH, its epidemiology and pathophysiology with a focus on management and future directions. Recent Findings Using MEDLINE, EMBASE, 52 articles on PTH in children and adolescents from 2016 to 2020 were identified. Over the last 4 years, our understanding of traumatic brain injury pathophysiology has grown, expanding the potential for more therapeutic targets. Despite this achievement, and recently published consensus guidelines, the review demonstrated a lack of published controlled trials to help guide management of pediatric PTH. The last 4 years have provided new insights into the potential pathophysiological mechanisms through laboratory research and advanced MR imaging; however, there continues to be a translational gap to clinical practice.

Objectives: Objectives Pseudohypoparathyroidism type 1A (PHP1A) is caused by maternal inheritance of GNAS mutations. It is characterized by the resistance to several hormones, primarily the parathyroid hormone (PTH), and the features of Albright's hereditary osteodystrophy. Case presentation: Here, we present a family comprised two affected brothers with PHP1A and identify a novel mutation (c.277C>T) in the GNAS gene. The siblings developed a slightly different presentation in the same clinical condition. Although both patients presented with PTH resistance, which is the hallmark of PHP, the proband showed the thyroid-stimulating hormone resistance with the progression of heterotopic ossification from skin and subcutaneous tissue into deep connective tissue, while the younger brother with normocalcemia did not show the resistance to other hormones. The patients may inherit the mutation from their mother who presumably carries the mutation as a mosaicism. Conclusions: Our case highlights the significance of considering mosaicism as an explanation for apparent de novo cases of pseudohypoparathyroidism.