Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.

Mitochondrial trifunctional protein (MTP) deficiency is a fatty acid oxidation disorder associated with a spectrum of phenotypes. Patients with high residual enzyme activity tend to have milder phenotypes, and recently, fever-induced episodic myopathy was reported in association with a thermosensitive form of MTP deficiency. We report a 10-year-old male with recurrent episodes of acute flaccid paralysis involving upper and lower extremities in association with bulbar muscle weakness in the context of febrile illness, a phenotype reminiscent of recurrent periodic paralysis.

Midazolam-Induced Seizure-Like Activity in Five Neonates: A case series.

An intravenous (IV) administration of midazolam may result in seizure-like activity or movement. This report describes 5 neonates who developed seizure-like movements after IV midazolam injection. The patients presented between 2019 and 2022 and were admitted to a neonatal intensive care unit located within an academic centre in Muscat, Oman.

Aetiology and Outcome of Childhood Convulsive Status Epilepticus: A tertiary care experience in Oman.

Objectives: This study aimed to evaluate the aetiology, management and outcomes of convulsive status epilepticus (CSE) in children and highlight the factors influencing patient outcomes in such cases.

Methods: In a retrospective study spanning the 2020-2023 period, 93 children with CSE treated at Sultan Qaboos University Hospital's emergency department (ED), high dependency unit (HDU) and intensive care unit (ICU) were analysed. The Modified Rankin Scale at discharge was used to determine CSE outcomes.

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.

Ramsay Hunt Syndrome Associated with Varicella-Zoster Virus Encephalitis in a Child.

Ramsay Hunt syndrome (RHS) is a triad of peri-auricular pain, ipsilateral facial nerve palsy and vesicular rash around the ear pinna. It is caused by reactivation of varicella-zoster virus (VZV) that lies dormant in the geniculate ganglia. It can be complicated by VZV encephalitis rarely.

Delayed myelopathy in a child following organic phosphate poisoning.

We report a rare manifestation of delayed organophosphate (OP) poisoning in a male patient in his early childhood. After initially presenting with a cholinergic crisis after OP exposure, the patient returned 3 weeks later with paraparesis and difficulty with bladder control. The results of the MRI of the spine and brain as well as the nerve conduction studies were normal.

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.

Background: NOTCH3, a large type I transmembrane receptor expressed on arterial smooth muscle cells and capillary pericytes, features a diverse extracellular domain with 34 epidermal growth factor-like repeats. It exhibits distinct phenotypes due to variant zygosity and type; missense mutations cause CADASIL with cerebral vasculopathy, while null mutations lead to severe congenital manifestations.

Methods: This report describes two cases with homozygous loss- of- function variants in NOTCH3 along with their clinical manifestations.

Guillain-Barré Syndrome Associated with SARS-CoV-2 in Two Pediatric Patients.

Guillain-Barré syndrome (GBS) is a recognised complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We report two children with GBS associated with SARS-CoV-2 who presented to a tertiary centre in Muscat, Oman in 2021: The first patient was a three-month-old female infant who presented with bradypnea, encephalopathy, and generalised weakness that required mechanical ventilation. Polymerase chain reaction (PCR) testing of the nasopharyngeal swabs (NPS) was positive for SARS-CoV-2.

Variants in underlie distal arthrogryposis accompanied by congenital heart defects.

Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as , , and that encode parts of the cardiac sarcomere cause muscle diseases that affect the heart, such as dilated cardiomyopathy and hypertrophic cardiomyopathy. In contrast, pathogenic variants in homologous genes such as , , and that encode parts of the skeletal muscle sarcomere cause muscle diseases affecting skeletal muscle, such as distal arthrogryposis (DA) syndromes and skeletal myopathies.

Case report: Cyclosporine A-induced extrapyramidal syndrome following hematopoietic stem cell transplantation.

Introduction: Cyclosporine A-associated neurotoxicity has been reported in up to 40% of patients and its wide range of neurological adverse effects have been reported, ranging from mild tremors to fatal leukoencephalopathy. Extrapyramidal (EP) neurotoxicity is a rare manifestation of cyclosporine. Cyclosporine-induced extrapyramidal syndrome remains a rare adverse reaction.

Variants in underlie distal arthrogryposis accompanied by congenital heart defects.

Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as , , and that encode parts of the cardiac sarcomere cause muscle diseases that affect the heart, such as dilated cardiomyopathy and hypertrophic cardiomyopathy. In contrast, pathogenic variants in homologous genes , , and , that encode parts of the skeletal muscle sarcomere, cause muscle diseases affecting skeletal muscle, such as the distal arthrogryposis (DA) syndromes and skeletal myopathies.

Hollow-core fibers with reduced surface roughness and ultralow loss in the short-wavelength range.

While optical fibers display excellent performances in the infrared, visible and ultraviolet ranges remain poorly addressed by them. Obtaining better fibers for the short-wavelength range has been restricted, in all fiber optics, by scattering processes. In hollow-core fibers, the scattering loss arises from the core roughness and represents the limiting factor for loss reduction regardless of the cladding confinement power.

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.

Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the gene. Here we present four Omani families with multiple affected members with DAIPT. The genetic diagnosis was established by whole exome sequencing and we identified a previously unreported homozygous missense variant : c.

MLIP-Associated Myopathy: A Case Report and Review of the Literature.

Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype.

Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era.

Background And Objectives: The introduction of spinal muscular dystrophy (SMA)-modifying therapies, such as antisense oligonucleotide therapy, has changed the natural history of SMA. Most reports on treatment outcomes have focused on motor scores and respiratory function. The objective of this study is to document the development and progression of scoliosis in patients with SMA1 treated with nusinersen.

Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen.

Background: Spinal muscular atrophy type 1 (SMA1) is a neuromuscular disorder with a natural history of chronic respiratory failure and death during infancy without ventilation. Recently, disease-modifying therapies such as nusinersen have improved disease trajectory. However, objective data on the trajectory of polysomnography outcomes, the relationship between motor scores and respiratory parameters, respiratory technology dependence and healthcare utilization in children with SMA1 remain to be elucidated.

Distinctive Neuroimaging Pattern in Term Newborns With Neonatal Placental Encephalopathy: A Case Series.

Background: Identifying antepartum versus intrapartum timing and the cause of neonatal encephalopathy (NE) often remains elusive owing to our limited understanding of the underlying pathophysiological processes and lack of appropriate biomarkers.

Objectives: This retrospective observational study describes a case series of term newborns with NE who displayed a recognizable magnetic resonance imaging pattern of immediately postnatal brain abnormalities that rapidly evolved toward cavitation. Our aim is to (1) report this neuroimaging pattern, (2) look for placental determinants, and (3) depict the outcome.

Pseudotumoral Demyelinating Lesions: A Presentation of Acute Disseminated Encephalomyelitis.

Pseudotumoral forms of demyelination are related to central nervous system demyelinating disorders, usually considered to be an atypical presentation of multiple sclerosis including its different varieties such as Balo's, Schilder's, and Marburg diseases. These lesions could also be seen in myelin oligodendrocyte glycoprotein antibody-associated demyelination, acute disseminated encephalomyelitis (ADEM), and neuromyelitis optica spectrum disorder. The pseudotumoral aspect may be mistakenly considered as an abscess or a cancerous tumor, in which case, patients could endure unnecessary possibly harmful brain biopsy and have a delay in their disease diagnostics and management.

COVID-19 outbreak: An experience to reappraise the role of hospital at home in the anti-cancer drug injection.

Background: The COVID-19 outbreak has posed considerable challenges to the health care system worldwide, especially for cancer treatment. We described the activity and the care organisation of the Hospitalisation At Home (HAH) structure during the pandemic for treating patients with anti-cancer injections.

Methods: We report the established organisation, the eligibility criteria, the patient characteristics, the treatment schemes and the stakeholders' role during two 5-week periods in 2020, before and during the French population's lockdown.

Contaminant-free end-capped and single-mode acetylene photonic microcell for sub-Doppler spectroscopy.

We report on the development of an acetylene-filled photonic microcell based on an assembly process that is contaminant free and requires no helium buffer gas nor gluing procedure. The microcell consists of a 7-m-long and 30 µm core-diameter inhibited-coupling guiding hollow-core photonic crystal fiber filled with acetylene gas at a pressure in the range of 80 µbar, sealed by capping its ends with fusion-collapsing a glass-tube sleeve, and mounted on FC connectors for integration. The microcell shows a robust single-mode behavior and a total insertion loss of ∼1.