The pattern of neurocritical disorders in multicenter in Khartoum State November 2020 to January 2021.

BACKGROUND: Neurocritical care is a growing subspecialty. It concerns with the management of life-threatening neurological disorders. There is limited information regarding epidemiological data, disease characteristics, variability of clinical care, and in-hospital mortality of neurocritical patients worldwide. OBJECTIVES: To study the pattern of neurocritical disorders in intensive care units. METHODOLOGY: This prospective observational study was conducted on neurocritical patients who were admitted to four intensive care units of major hospitals in Khartoum state during the period from November 2020 to January 2021. RESULTS: Seventy-two neurocritical patients were included in this study, 40 (55.6%) were males and 32(44.4%) were females. Twenty-three (31.9%) patients were with stroke, 12 (16.7%) with encephalitis, 9 (12.5%) with status epilepticus, 6 (8.3%) with Guillain Barre syndrome, and 4(5.6%) with Myasthenia Gravis (MG). Twenty-three patients (39.9%) needed mechanical ventilation (MV), which was the major indication for intensive care unit admission. CONCLUSION: Stroke was the dominant diagnostic pattern requiring intensive care unit admission. Mechanical ventilation was the major indication for admission. Establishing specialized neurocritical intensive care units is highly recommended.

Outcome of neurocritical disorders, a multicenter prospective cross-sectional study.

BACKGROUND: Patients with neurocritical disorders who require admission to intensive care units (ICUs) constitute about 10-15% of critical care cases. OBJECTIVES: To study the outcome of neurocritical disorders in intensive care units. METHODOLOGY: This is a prospective cross-sectional study that was conducted among neurocritical patients who were admitted in four intensive care units of four major hospitals in Khartoum state during the period from November 2020 to March 2021. RESULTS: Seventy-two neurocritical patients were included in this study; 40(55.6%) were males and 32(44.4%) were females. Twenty-one (29.2%) patients fully recovered, 35 (48.6%) partially recovered and 16 (22.2%) died. The mortality of the common neurocritical diseases were as follows: stroke 30.4%, encephalitis (8.3%), status epilepticus (11.1%), Guillain-Barre syndrome (GBS) (16.7%), and myasthenia gravis (MG) (25%). CONCLUSION: This study identified that near two-thirds of the patients required mechanical ventilation. Delayed admission was observed due to causes distributed between the medical side and patient side. The majority of patients were discharged from ICU with partial recovery.

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.

BACKGROUND: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mutations in the DARS2 gene but has never been reported in sub-Saharan Africa so far. CASE PRESENTATION: Two siblings, aged 18 years and 15 years, from a consanguineous family presented with pyramidal signs and symptoms since infancy and developmental delay. Whole exome sequencing of the proband identified two compound heterozygous variants (NM_018122.4:c.1762C > G and c.563G > A) in DARS2. Sanger sequencing confirmed the presence of the mutations and their segregation in trans in both patients and in their elder sister (aged 20 years), who showed only brisk reflexes and mild lower limb spasticity. Surprisingly, in contrast to her subtle clinical presentation, the elder sister had abnormal MRI features and serum lactate levels comparable to her ill sisters. CONCLUSION: This report illustrates intra-familial phenotypic variation in LBSL and provides an example of a marked dissociation between the clinical and radiological phenotypes of the disease. This may have implications for the detection of mutation carriers in LBSL.

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Recent understanding of the genetic basis of neurological disorders in Africa has grown rapidly in the last two decades. Africa harbors the largest genetic repertoire in the world which gives unique opportunity to discover novel variant, genes, and molecular pathways associated with various neurological diseases. Despite that, large-scale genomic and exome studies are severely lacking especially for neglected diseases such as leukodystrophies. This review aims to shed light on the currently developed research in leukodystrophies in Africa. We reviewed all research articles related to "Leukodystrophy in Africa" published in Medline/PubMed and Google Scholar databases up to date. We found very few studies in leukodystrophy from Africa, especially from the Sub-Saharan regions. Metachromatic leukodystrophy was the most studied type of leukodystrophy. Published studies from North Africa (Tunisia, Morocco, and Egypt) were very limited in either sample size (case studies or single/few family studies) or molecular methods (targeted sequencing or polymerase chain reaction-restriction fragment length polymorphisms). More studies (GWAS or large family studies) with advanced techniques such as exome or whole genome sequencing are needed to unveil the genetic basis of leukodystrophy in Africa. Unmasking novel genes and molecular pathways of leukodystrophies invariably lead to better detection and treatment for both Africans and worldwide populations.