Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) is an ultra-rare autosomal recessive disorder that leads to mutations in the nuclear genes encoding thymidine phosphorylase. Symptoms include gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoplegia, sensorimotor neuropathy and asymptomatic leukoencephalopathy. We describe the first case of MNGIE with meningoencephalitis that ultimately led to a familial diagnosis ending a diagnostic odyssey. We retrospectively reviewed the electronic medical records and sent whole exome sequencing for the index case and his family members. We report the variant c.877T>C p.(Cys293Arg) found in TYMP gene in all affected siblings showed typical clinical manifestations related to MNGIE. To the best of our knowledge, this is not described in the literature nor in the population databases dbSNP (Single Nucleotide Polymorphism Database) and gnomAD (Genome Aggregation Database). Additionally, it is located in a highly conserved residue and the bioinformatic analysis suggests it is most probably deleterious. Moreover, we estimated 550 number of cases of MNGIE (including 5 cases in this study) after performing an extensive search in the literature across 3 databases from 1983-2023. In addition, we identified 44 patients with MNGIE-like phenotype in genes other than TYMP. MNGIE-like phenotype affects POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.

A rare neurological presentation unravels a family's medical mystery after years of no diagnosis: MNGIE is a rare disease caused by changes in a gene that cause deficiency in an enzyme called thymidine phosphorylase. Patients complain of significant weight loss, tingling and numbness in their extremities, muscle weakness, digestive issues and drooping eyelids. We encountered a patient with symptoms and signs of inflammation of the brain and it's protective lining. However, laboratory tests were inconclusive whilst his condition kept deteriorating. A genetic analysis revealed a new mutation not described in the literature before. This has also helped to diagnose the entire family after years of not receiving an answer regarding their symptoms. We also found 550 cases of MNGIE published in the scientific literature from 1983 to 2023. This case highlights the importance of taking a family's entire family history and genetic testing to solve complex medical cases.

Things are not what they seem neurologically and radiologically: An apt descriptor for spinal dural arteriovenous fistula (SDAVF).

Spinal dural arteriovenous fistulas (SDAVF) are the most common vascular malformations affecting the spinal cord. It is infrequently encountered in clinical practice and is believed to be acquired, predominantly affecting middle-aged and elderly men with unknown etiology. It is usually misdiagnosed despite presenting with conventional clinical findings and radiological features. Insidious onset of myelopathic findings is seen in addition to pathognomonic findings of cord edema and intrathecal flow voids on MRI. We present a case of SDAVF that was missed by the treating orthopedic surgeon and underwent spinal decompression with subsequent persistence of myelopathic symptoms. Angiography is required to confirm the diagnosis location of the fistula. Treatment is with embolization using liquid embolic agents or surgical through ligation of the draining vein. Endovascular techniques are minimally invasive, safe, and effective. Knowledge of the characteristics and advantages/disadvantages of each agent helps in planning and appropriate selection of agents for the patient. We report successful embolization with improved clinical outcomes for the patient using precipitating hydrophobic injectable liquid (PHIL) embolic agent. The outcome and prognosis of SDAVF depend on the duration of symptoms, severity of neurological symptoms, and successful occlusion of the fistulous draining vein. Awareness of this rare condition amongst clinicians and radiologists, would enable an earlier diagnosis and avoid morbid outcomes of this treatable condition.

Assessment of Knowledge, Attitude, and Practice Towards Migraine Among the General Population in the Kingdom of Bahrain.

OBJECTIVE:  The primary objective of this research is to assess the general population's knowledge, attitude, and practice towards migraine. METHOD:  A cross-sectional study was conducted on a total sample of 255 participants. The data were obtained from a self-administered electronic questionnaire (Appendix) distributed through social media. Data analysis was done using the IBM Corp. Released 2019. IBM SPSS Statistics for Windows, Version 26.0. Armonk, NY: IBM Corp. For statistics, frequency, percentage, median, and standard deviation were calculated.  Results: Among the Bahraini population, knowledge about migraine definition, triggers, risk factors, symptoms, and treatment is satisfactory. However, knowledge about migraine prophylaxis is limited. Attitude and practice towards the disease showed adequate responses among the population, as they prefer consulting a doctor and believe that lifestyle modification is the best migraine treatment. CONCLUSION:  The general population of the Kingdom of Bahrain needs more awareness regarding migraine. Although the majority of the population showed good responses, which displayed some knowledge of the disease, community-based campaigns are still needed.

Stroke services in the Middle East and adjacent region: A survey of 34 hospital-based stroke services.

Background: Acute stroke care is complex and requires multidisciplinary networking. There are insufficient data on stroke care in the Middle East and adjacent regions in Asia and Africa. Objective: Evaluate the state of readiness of stroke programs in the Middle East North Africa and surrounding regions (MENA+) to treat acute stroke. Method: Online questionnaire survey on the evaluation of stroke care across hospitals of MENA+ region between April 2021 and January 2022. Results: The survey was completed by 34/50 (68%) hospitals. The median population serviced by participating hospitals was 2 million. The median admission of patients with stroke/year was 600 (250-1,100). The median length of stay at the stroke units was 5 days. 34/34 (100%) of these hospitals have 24/7 CT head available. 17/34 (50%) have emergency guidelines for prehospital acute stroke care. Mechanical thrombectomy with/without IVT was available in 24/34 (70.6%). 51% was the median (IQR; 15-75%) of patients treated with IVT within 60 min from arrival. Thirty-five minutes were the median time to reverse warfarin-associated ICH. Conclusion: This is the first large study on the availability of resources for the management of acute stroke in the MENA+ region. We noted the disparity in stroke care between high-income and low-income countries. Concerted efforts are required to improve stroke care in low-income countries. Accreditation of stroke programs in the region will be helpful.

Waiting for a miracle or best medical practice? End-of-life medical ethical dilemmas in Bahrain.

BACKGROUND AND OBJECTIVES: In Bahrain, maintaining life support at all costs is a cultural value considered to be embedded in the Islamic religion. We explore end-of-life decision making for brain dead patients in an Arab country where medical cultures are dominated by Western ideas and the lay culture is Eastern. METHODS: In-depth interviews were conducted from February to April 2018 with 12 Western-educated Bahraini doctors whose medical practice often included end-of-life decision making. Discussions were about who should make withdrawal of life support decisions, how decisions are made and the context for decision making. To develop results, we used the inductive method of thematic analysis. RESULTS: Informants considered it difficult to engage non-medical people in end-of-life decisions because of people's reluctance to talk about death and no legal clarity about medical responsibilities. There was disagreement about doctors' roles with some saying that end-of-life decisions were purely medical or purely religious but most maintaining that such decisions need to be collectively owned by medicine, patients, families, religious advisors and society. Informants practised in a legal vacuum that made their ethics interpretations and clinical decision making idiosyncratic regarding end-of-life care for brain dead patients. Participants referred to contrasts between their current practice and previous work in other countries, recognising the influences of religious and cultural dimensions on their practice in Bahrain. CONCLUSIONS: End-of-life decisions challenge Western-trained doctors in Bahrain as they grapple with aligning respect for local culture with their training in the ethical practice of Western medicine.

Airplane stroke syndrome.

Only 37 cases of stroke during or soon after long-haul flights have been published to our knowledge. In this retrospective observational study, we searched the Royal Melbourne Hospital prospective stroke database and all discharge summaries from 1 September 2003 to 30 September 2014 for flight-related strokes, defined as patients presenting with stroke within 14days of air travel. We hypothesised that a patent foramen ovale (PFO) is an important, but not the only mechanism, of flight-related stroke. We describe the patient, stroke, and flight characteristics. Over the study period, 131 million passengers arrived at Melbourne airport. Our centre admitted 5727 stroke patients, of whom 42 (0.73%) had flight-related strokes. Flight-related stroke patients were younger (median age 65 versus 73, p<0.001), had similar stroke severity, and received intravenous thrombolysis more often than non-flight-related stroke patients. Seven patients had flight-related intracerebral haemorrhage. The aetiology of the ischaemic strokes was cardioembolic in 14/35 (40%), including seven patients with confirmed PFO, one with atrial septal defect, four with atrial fibrillation, one with endocarditis, and one with aortic arch atheroma. Paradoxical embolism was confirmed in six patients. Stroke related to air travel is a rare occurrence, less than one in a million. Although 20% of patients had a PFO, distribution of stroke aetiologies was diverse and was not limited to PFO and paradoxical embolism.

Stroke in Bahrain: rising incidence, multiple risk factors, and suboptimal care.

The incidence of stroke in Bahrain is rising in the Bahraini population and has nearly doubled over the last 16 years, while the incidence in the non-Bahraini population has not changed. Incidence of stroke in the Bahraini population (110/100,000) is now much greater than in the non-Bahraini population (27/100,000). The Bahraini stroke population is 10 years younger than Western comparators with a much higher prevalence of many of the risk factors for stroke, including diabetes (54%), hypertension (75%) and hyperlipidemia (34%). The combination of an ageing Bahraini population alongside a high prevalence of risk factors suggests a 'ticking time bomb' that is likely to see a continuing rise in the incidence of stroke. The quality of risk factor prevention and hospital-based stroke care is therefore crucial in Bahrain. While 88% of patients were scanned within 24 h and 86% with non-haemorrhagic strokes were commenced on aspirin within 48 h, none of the patients received thrombolysis or were admitted to a stroke unit. Improvement of stroke outcomes in Bahrain could be achieved through implementation of evidence-based measures, including improved risk factor management in primary care and stroke units and thrombolysis in secondary care.