Protocol-Based Standardized Endocrinological Evaluation of Children With Traumatic Brain Injury: A Quality Improvement Initiative.

Introduction: Traumatic brain injury (TBI) can disrupt the hypothalamo-pituitary axis, causing neuroendocrine dysfunction. As a third of children can develop post-traumatic hypothalamo-pituitary axis dysfunction (HPAD), a longitudinal follow-up is required in children with TBI.

Method: The study comprised a pre-quality improvement (QI) phase (baseline phase) and a QI phase (post-intervention phase).

Severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8: a possible contribution of 2p duplication.

Objectives: We report an uncommon case of severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8 with 2p duplication. After ruling out all the possible etiologies of hypercalcemia, we speculated a potential contribution of 2p duplication involving 225 genes.

Case Presentation: An 11-month old female infant with global developmental delay, failure to thrive (FTT), hypotonia, amblyopia, constipation, and recent onset emesis was admitted to the hospital after an incidental diagnosis of severe hypercalcemia.

Low function of natural killer cells in treated classic Menkes disease.

Background: Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene. Features such as Ehlers- Danlos syndrome, trichopoliodystrophy, urologic and skeletal changes have been reported. We present a case of classic MD treated with copper infusions who suffered from persistent natural killer (NK) cell dysfunction.