Behavioral Problems in Fragile X Syndrome: A Review of Clinical Management.

Fragile X syndrome (FXS) is noted to be the leading cause of inherited intellectual disabilities and is caused by expansive cytosine-guanine-guanine (CGG) trinucleotide repeats in the fragile X mental retardation 1 gene (FMR1). FXS can display a wide range of behavioral problems in addition to intellectual and developmental issues. Management of these problems includes both pharmacological and non-pharmacological options and research on these different management styles has been extensive in recent years. This narrative review aimed to collate recent evidence on the various management options of behavioral problems in FXS, including the pharmacological and non-pharmacological treatments, and also to provide a review of the newer avenues in the FXS treatment.

Bevacizumab and Sinus Venous Thrombosis: A Literature Review.

Pediatric glioma treatment can be confounded by eloquent anatomical location and pathologic and genetic characteristics. Current literature suggests that the vascular endothelial growth factor (VEGF) inhibitor bevacizumab has been linked to enhancing disease control; however, its safety and effectiveness are unknown. Bevacizumab has been linked with an increased incidence of intratumoral hemorrhage as well as arterial and venous thromboembolism. A rare adverse effect of chemotherapeutic treatment with bevacizumab is sinus venous thrombosis (SVT), with only a few cases reported to date. This review highlights the pathophysiology of bevacizumab, its rare and life-threatening side effect of SVT, and future recommendations.

Refractory Epilepsy in a Toddler With PPP2R1A Gene Mutation and Congenital Hydrocephalus.

Protein phosphatase 2A (PP2A) is a serine-threonine phosphatase that controls a variety of cellular functions. The PPP2R1A gene is present on chromosome 19 (19q13.41). Its mutation can interrupt B56δ-dependent dephosphorylation where B56δ is greatly expressed in the neural tissues. We present a case of a 14-month-old boy with infantile spasms, developmental delay, obstructive sleep apnea, PPP2R1A gene mutation, congenital hydrocephalus, hypoplastic/absent corpus callosum, pontocerebellar hypoplasia, and medically refractory seizures. He underwent multiple surgical procedures that include endoscopic third ventriculostomy with choroid plexus cauterization, ventriculoperitoneal shunting, and external ventricular drain for progressive hydrocephalus with multiple antiepileptic regimes for refractory epilepsy with variable response.