Atypical idiopathic intracranial hypertension presenting as cyclic vomiting syndrome: a case report.

Background: Idiopathic intracranial hypertension is a disorder of increased intracranial pressure in the absence of cerebrospinal outflow obstruction, mass lesion, or other underlying cause. It is a rare phenomenon in prepubertal children and is most typically found in women of childbearing age. The classic presentation consists of headaches, nausea, vomiting, and visual changes; however, children present more atypically.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism.

Post-Trial Sustainability and Scalability of the Benefits of a Medical Home for High-Risk Children with Medical Complexity.

Objective: To assess the sustainability of the benefits relative to usual care of a medical home providing comprehensive care for high-risk children with medical complexity (≥2 hospitalizations or ≥1 pediatric intensive care unit [PICU] admission in the year before enrollment) after we made comprehensive care our standard practice and expanded the program.

Study Design: We conducted pre-post comparisons of the rate of children with serious illness (death, PICU admission, or >7-day hospitalization) and health-system costs observed after program expansion (March 2014-June 2015) to those during the clinical trial (March 2011-August 2013) for each of the trial's treatment groups (usual care, n = 96, and comprehensive care, n = 105; primary analyses), and among all children given comprehensive care (n = 233, including trial usual care children who transitioned to comprehensive care post-trial and newly enrolled medically complex children, and n = 105; secondary analyses). We also analyzed the findings for the trial patients as a 2-phase stepped-wedge study.

Difference in central and peripheral recovery in a patient with severe axonal motor neuropathy and central nervous system involvement and review of literature.

In the literature, the term fulminant Guillain-Barré syndrome is used to refer to patients with Guillain-Barré syndrome with rapidly progressive and severe weakness and/or comatose state mimicking brain death. We present the case of a 53-year-old man with fulminant Guillain-Barré syndrome with discrepancy in central nervous system and peripheral nervous system recovery. Our review of literature confirms that these patients often have good and relatively rapid recovery of central nervous system function, whereas peripheral nervous system function is relatively delayed and often incomplete.