Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.

Background: Brown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of presentation, and it is characterized by progressive auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise secondary to diaphragmatic and vocal cord paralysis. BVVL syndrome has a poor prognosis in the absence of treatment, including morbidity with quadriparesis and sensorineural hearing loss, with mortality in the younger age group.

Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the gene.

Background: Bare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the gene, which regulates major histocompatibility complex class II (MHC II) expression.

Objective: We report the case of a Saudi boy with a novel mutation in the gene who presented with acute and late meningoencephalomyelitis, resulting in severe neurodevelopmental regression.

Methods: We reviewed the patient's clinical and laboratory data obtained from medical records and performed a literature search on BLS II.

Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symmetrically increased T1 and decreased T2/fluid-attenuated inversion recovery signal intensity in the basal ganglia. This condition is secondary to a mutation in the gene.

Objective: To present a series of three cases of hypermanganesemia with dystonia type 2, which was genetically confirmed secondary to a mutation in the gene, and to describe the treatment and clinical course in these cases.

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.

Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnormalities of the brain. Most patients die during early childhood. Here, we identified a novel homozygous O-sialoglycoprotein endopeptidase (OSGEP) variant, NM_017807.

Association between acute kidney injury and brain injury on term-equivalent age brain magnetic resonance imaging in very preterm infants.

Background: This study aimed to investigate the relationship between acute kidney injury (AKI) in the first 2 weeks of life and brain injury on term-equivalent age magnetic resonance imaging in very preterm infants.

Methods: We included 116 infants with a birth weight of < 1500 g who were born at the King Saud Medical City at ≤ 32 gestational weeks. They were admitted to the neonatal intensive care unit and underwent term-equivalent age and pre-discharge brain magnetic resonance imaging.

Association between morphine exposure and impaired brain development on term-equivalent age brain magnetic resonance imaging in very preterm infants.

To investigate the relationship between morphine exposure in the first week of life and brain injury on term-equivalent age magnetic resonance imaging (MRI) in very preterm infants. A retrospective study included 106 infants with a birth weight of < 1500 g who were born at King Saud Medical City at ≤ 32 gestational weeks, were admitted to the neonatal intensive care unit, and underwent term-equivalent age or pre-discharge brain MRI. A univariate analysis in addition to modified log-Poisson regression with a robust variance estimator was applied, and the effect of early morphine exposure and cumulative dose in the first seven days on brain morphology and growth at term-equivalent age was determined using the Kidokoro score.

Correlation of radiological features of white epidermoid cysts with histopathological findings.

Epidermoid cysts are benign congenital extra-axial lesions commonly found in the posterior fossa. These lesions have a characteristic imaging appearance on computed tomography (CT) scan and magnetic resonance imaging (MRI), but occasionally they may exhibit atypical radiological features, showing unusual hyperintensity on T1-weighted images (T1WI). Currently, such atypical appearance is referred to as white epidermoid.

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.

Central hypothyroidism might be another clinical sign of SSADH deficiency which prompts urinary organic acid screening for GHB in central hypothyroidism patients. Studies on GABA and thyroid hormone interaction might be a concept of a new therapy.

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5'-phosphate (PLP)-vitamin-responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Pre-maturity and fetal distress, combined with neonatal seizures, are other associated key characteristics.

Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.

This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. This clinical triad was initially named after the first person to describe it in 1993. Here, we report a family with two siblings who presented with unusual intestinal atresia and ocular and CNS abnormalities.

The association between petrous apex cephalocele and empty sella.

Purpose: Petrous apex cephalocele (PAC) is a rare lesion that has been linked to empty sella in several case reports. The aim of this study is to document the incidence of empty sella and PAC in consecutive brain MRI studies and study the association between these two lesions to better understand the underlying etiology of PAC.

Methods: A total of 2410 brain MRI studies were performed in our institution in the period from January 2011 to December 2011.

Effect of interferon treatment on hearing of patients with chronic hepatitis C.

Background/aim: Some reports in the literature have linked interferon therapy for the treatment of hepatitis C (HCV) with hearing loss. The aim of this study has been to examine the effects of interferon therapy on hearing of patients treated for HCV.

Patients And Methods: Patients were recruited according to preset inclusion criteria from two centers.