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Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia with elongated cerebellar peduncles leading to the molar tooth sign. While the malformation is reminiscent of bilateral frontoparietal polymicrogyria (BFPP), the phenotype is more severe than previously reported and also includes features of Joubert syndrome (JBTS). Via exome sequencing, we identified homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556, which are known to cause BFPP and mild brain-specific JBTS, respectively. This study shows how two independent mutations can interact leading to complex brain malformations.

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.

Background Effective discharge documentation is essential for ensuring patient safety, care continuity, and communication among healthcare providers. However, in resource-limited settings like Sudan, documentation quality is often suboptimal, leading to gaps in care and poor patient outcomes. This quality improvement project (QIP) at Dongola Specialized Hospital aimed to address these challenges by implementing a standardized discharge card and providing targeted staff training. Methods  The study was conducted over two cycles, with data collected from 50 discharge cards in each cycle, selected using a simple randomization technique. The first cycle assessed baseline documentation practices, revealing significant inconsistencies. A standardized discharge card was then developed and implemented, accompanied by training sessions for healthcare providers. The second cycle evaluated the intervention's effectiveness, measuring compliance and completeness of patient information (e.g., clinical summaries, discharge plans, and medication lists). Feedback from healthcare providers and patients was also collected to assess the new system's impact. Results The intervention led to significant improvements in discharge documentation quality. Compliance with the new format increased from 66% in the first cycle to 92% in the second cycle. Completeness of patient information reached 100%, while clinical summaries and discharge plans improved by 40% and 30%, respectively. Medication list accuracy also increased to 88%. Preliminary data indicated a 15% reduction in readmission rates, attributed to clearer postdischarge instructions. However, challenges such as incomplete documentation in certain sections and time constraints for healthcare providers remained. Conclusion The implementation of a standardized discharge card significantly improved the quality of discharge documentation at Dongola Specialized Hospital, contributing to better patient outcomes and reduced readmission rates. The findings highlight the importance of structured documentation and regular audits in enhancing patient safety and care continuity, particularly in resource-limited settings. Ongoing efforts are needed to address remaining challenges, such as incomplete documentation and time constraints, to ensure sustained improvements in the discharge process. This study serves as a model for similar healthcare facilities aiming to improve documentation practices and patient care.

Follow-up checklists are essential tools in ensuring comprehensive patient care, promoting clear communication among healthcare professionals, and enhancing patient safety. This two-cycle clinical audit aimed to evaluate and improve the quality of follow-up checklists in Rabak Teaching Hospital by assessing adherence to standardized documentation practices based on the National Institute for Health and Care Excellence (NICE) guidelines. A retrospective and prospective observational study was conducted over two cycles, with 50 follow-up notes evaluated in each cycle. The first cycle (baseline) was conducted between June 10, 2024, and July 12, 2024, and the second cycle (re-audit) was conducted from August 13, 2024, to August 24, 2024. Data were collected using a premade questionnaire based on NICE guidelines and analyzed using quantitative and qualitative methods. The second cycle revealed significant improvements in the completeness and accuracy of follow-up documentation compared to the first cycle. Key areas such as patient history, vital signs, physical examination, and management plans showed enhanced adherence to guidelines. The findings demonstrate that structured follow-up checklists, combined with staff training and regular audits, can significantly improve documentation quality, thereby optimizing patient care. Continued re-auditing is recommended to sustain these improvements.