Stiripentol safety profile and efficacy in cases of SCN1A-related Dravet syndrome, multi-center experience, Saudi Arabia.

Objectives: To evaluate the effectiveness and safety of Stiripentol (STP) in individuals with Dravet syndrome resulting from SCN1A gene mutation METHODS: A retrospective study with a descriptive focus was carried out in 2023, involving 44 patients diagnosed with Dravet Syndrome, with data collected by chart review and interviews of caregivers based on a pre-structured data extraction sheet. Data included age of seizure onset, SCN1A gene variant, duration of seizures before STP initiation, age at the time of starting STP administration, change in seizure frequency or duration after STP initiation, and at 6 months following initiation, and concomitant anti-seizure medication.

Results: 25 patients experienced a significant reduction in the frequency of their seizures, while 12 showed a mild to moderate reduction.

Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.

Background: Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disorder characterized by diverse neurological and extra-neurological manifestations. In children, chronic diarrhea, neonatal cholestasis, and cataracts are characteristics and often precede neurological symptoms, while adults typically present with cognitive decline and gait disturbances. This variability contributes to frequent misdiagnosis and delays in diagnosis, leading to significant neurological deterioration.

Effectiveness of social skills training interventions for children with autism spectrum disorder: A systematic review and meta-analysis.

Objectives: To evaluatethe effectiveness of social skills training (SST) interventions for children with autism spectrum disorder (ASD).

Methods: A systematic review and meta-analysis were carried out to identify relevant studies published between 2000-2023. The study was conductedin accordance with the PRISMA guidelines.

CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.

Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare and complex disorder affecting multiple organ systems. It is characterized by liver dysfunction, hypotonia, global developmental delay, coarse hair, and dysmorphic features. We describe two cases of THNS of Saudi origin, the fifth and sixth cases in the medical literature.

Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.

Parkinsonism-dystonia-2 PKDYS2 is an autosomal-recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one case and a novel finding on MRI Brain, consisting of a normal symmetrical signal intensity in the dorsal brainstem and pons, and it substantiates the significance of genetic testing in the evaluation of children with developmental delays, which influences clinical decisions to enhance patient outcomes.

-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.

Biallelic pathogenic variants in mitochondrial aminoacyl-tRNA synthetase (mt-aaRS) are associated with mitochondrial cytopathy. Here, we report the tenth case of an individual with biallelic pathogenic variants, detected by exome sequencing (ES), and a literature review of ten cases of mutations. Our patient displayed symptoms and clinical and laboratory findings similar to those reported previously with normal lactate levels.

High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

Cobalamin C () deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of presentation. Individuals with late-onset may be asymptomatic until manifesting neuropsychiatric symptoms, thromboembolic events, and renal disease. Although hydroxocobalamin provides a foundation for therapy, optimal dose regimen for adult patients has not been systematically evaluated.