Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Bilateral Ocular Ischaemic Syndrome—Rare Complication of Rhinocerebral Mucormycosis in an Omani Patient : Case report and literature review

Ocular ischaemic syndrome (OIS) is a relatively uncommon condition. Simultaneous bilateral involvement is even less common and has been reported in only 22% of all cases of OIS. It has variable clinical presentations, of which visual loss and ocular pain are the most common. It is believed to occur when there is a 90% or greater carotid artery obstruction. This syndrome is often associated with a number of systemic diseases including diabetes mellitus, hypertension, coronary artery disease, and cerebrovascular disease. Only occasionally has it been described as a complication of rhinocerebral mucormycosis. We report an unusual case of bilateral OIS secondary to bilateral internal carotid artery thrombosis as a complication of invasive rhinocerebral mucormycosis. In addition, a review of clinical presentation, diagnostic work-up and treatment options for OIS is provided

‘Papaya Seed’ Appearance of Subependymal Nodules on Magnetic Resonance Imaging in a Patient with Tuberous Sclerosis

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Maxillary Artery Pseudoaneurysm as a Complication of Maxillofacial Injuries: Report of three cases and literature review

Traumatic maxillary artery pseudoaneurysm is an uncommonly reported complication in the field of oral and maxillofacial surgery. It is usually discovered incidentally, either early after trauma or weeks-to-months later. Quick recognition and prompt management are essential to avoid devastating consequences. In this paper, we report three uncommon cases of maxillary artery pseudoaneurysm recognised during the surgical management of maxillofacial injuries in Muscat, Oman. All cases presented as sudden brisk bleeding during the intraoperative surgical repair and were subsequently diagnosed and successfully managed by endovascular embolisation with platinum coils. This case report highlights the clinical presentation, diagnosis and management of maxillary artery pseudoaneurysm, in addition to a brief review of the literature.Keywords: Maxillofacial Injuries; Maxillary Artery; Pseudoaneurysm; Mandibular Condyle; Angiography; Therapeutic Embolization; Case Report; Oman

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A study of 74 cases

Objectives: The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. Methods: This retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded. The children were labelled as having either the pure or complicated form of HSP based on the established diagnostic criteria. In families with more than one affected child, parents and all other siblings were also examined. Results: Within the study, 74 children from 31 families were diagnosed with HSP. Parental consanguinity was seen in 91% of cases, with 44 children (59.4%) experiencing onset of the disease under one year of age. Complicated HSP was the most common type, seen in 81.1%. Speech involvement, mental retardation, and epilepsy were the most common associated abnormalities. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. Conclusion: The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases.

Identification of Asymptomatic Severe Acute Respiratory Syndrome Coronavirus 2 Infections among Healthcare Workers at Sultan Qaboos University Hospital, Oman

Objectives: This study aimed to describe the incidence and features of asymptomatic COVID-19 infections among HCWs at a tertiary hospital in Oman. Methods: This cross-sectional study was conducted between August 2020 and February 2021 among HCWs with no history of COVID-19 infection using an online questionnaire to collect sociodemographic and clinical data. COVID-19 infection was diagnosed using nasopharyngeal/throat swabs, which were tested for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Analyses were performed using Chi-squared test, Fisher’s exact test, or univariate ordinary least squares regression, as appropriate. Results: A total of 583 HCWs participated in the study. Most were female (56.6%) and the mean age was 35 ± 8 years . Only 9.6% (95% confidence interval [CI]: 7.3–12.3%) of the HCWs were at high exposure risk as they were directly involved in the care of COVID-19-infected patients. Overall, 4.1% (95% CI: 2.7–6.1%) of the HCWs screened positive for SARS-CoV-2; of these, five (20.8%) developed symptoms within two weeks. The frequency of SARS-CoV-2 positivity among HCWs working in high, intermediate, low, and miscellaneous risk areas was 1.8% (95% CI: <0.1–9.6%), 2.6% (95% CI: <0.1–6.5%), 5.3% (95% CI: 0.3–9.3%), and 4.8% (95% CI: <0.1–69.3%), respectively. Working in high-risk areas was associated with increased compliance with various infection control strategies (P <0.001). Conclusion: There was a greater frequency of SARS-CoV-2 positivity among HCWs working in lower-risk areas, whereas HCWs who worked in high-risk areas were significantly more likely to report increased compliance with infection control strategies. Keywords: SARS-CoV-2; COVID-19 Nucleic Acid Testing; Asymptomatic Infections; Health Personnel; Occupational Exposure; Infection Control; Real-Time Polymerase Chain Reaction; Oman

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolaminephosphotransferase 1 (EPT1) gene (now known as SELENOI), responsible for the final step in Kennedy pathway forming phosphatidylethanolamine from CDP-ethanolamine. Phosphatidylethanolamine is a glycerophospholipid that, together with phosphatidylcholine, constitutes more than half of the total phospholipids in eukaryotic cell membranes. We determined that the mutation defined dramatically reduces the enzymatic activity of EPT1, thereby hindering the final step in phosphatidylethanolamine synthesis. Additionally, due to central nervous system inaccessibility we undertook quantification of phosphatidylethanolamine levels and species in patient and control blood samples as an indication of liver phosphatidylethanolamine biosynthesis. Although this revealed alteration to levels of specific phosphatidylethanolamine fatty acyl species in patients, overall phosphatidylethanolamine levels were broadly unaffected indicating that in blood EPT1 inactivity may be compensated for, in part, via alternate biochemical pathways. These studies define the first human disorder arising due to defective CDP-ethanolamine biosynthesis and provide new insight into the role of Kennedy pathway components in human neurological function

Relapse of Multiple Myeloma Presenting as Lower Lip Numbness

Multiple myeloma (MM) is an uncommon malignancy characterised by the proliferation of clonal plasma cells. There are few published reports describing the extramedullary presentation of MM manifesting primarily in the head and neck region. In addition, the occurrence of an isolated relapse of MM in these sites is exceedingly rare. We report a 56-year-old female who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2010 with sudden-onset numbness of the lower lip. She had a history of MM in remission following chemotherapy and a bone marrow transplant. Clinical and radiographic examinations were indicative of a possible relapse of MM, which was subsequently confirmed by bone marrow aspiration and histopathological evaluation. This unique case highlights the unusual site of relapse of a haematolymphoid malignancy

Syncopal Attacks and Severe Abdominal Pain

A 54 years old male, chronic smoker, hypertensive on beta blocker presented to the emergency room with a history of syncopal attacks from early morning followed by severe abdominal and back pain lasting for four hours. There was no history of trauma, fever or change in bowel habits