Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Purpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.

Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.

Metabolic and genetic disorders mimicking cerebral palsy.

Cerebral palsy is a syndrome that encompasses a large group of childhood movement and posture disorders that result from a lesion occurring in the developing brain. The clinical presentation of many metabolic and genetic conditions, particularly in highly consanguineous populations, can mimic cerebral palsy particularly at early age. The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders that resemble cerebral palsy, the clinical and neuroimaging red flags, and highlight some metabolic and genetic conditions which may present with spasticity, ataxia and dyskinesia.

The incidence and spectrum of central nervous system malformations in newborns over a decade (2001-2010) in the Central Region of Saudi Arabia.

Objective: To study the incidence and spectrum of central nervous system (CNS) malformations confirmed by computerized tomography (CT), or magnetic resonance imaging (MRI) in a Saudi newborn population of Riyadh over a 10-year period, and to compare our findings with those in the published literature.

Methods: This is a retrospective analysis of prospectively collected data on all inborn babies admitted to the Neonatal Intensive Care Unit in Riyadh Military Hospital, Riyadh, Kingdom of Saudi Arabia that underwent CT or MRI of the brain and spine from January 2001 to December 2010. Out born babies, babies who sustained birth asphyxia, and premature babies were excluded from the study.