Background Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine. BTRBGD is caused by mutations in the SLC19A3 gene on chromosome 2q36.6, encoding human thiamine transporter 2 (hTHTR2). Episodes of BTRBGD are often triggered by febrile illness. Case report The patient was 2 years 10 months old male child presented with fever and progressive acute encephalopathy associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus infection. MRI revealed bilateral symmetrical high signal involving both basal ganglia and medial thalami which is swollen with central necrosis, initially diagnosed as acute necrotizing encephalomyelitis with increased severity. Genetic analysis revealed BTRBGD. Conclusion BTRBGD requires high index of suspicion in any patient presenting with acute encephalopathy, characteristic MRI findings (that are difficult to differentiate from necrotizing encephalopathy), regardless of the existence of a proven viral infection.

A series of 6 consecutive cases of orbital metastasis from hepatocellular carcinoma (HCC) were reported in the last 5 years. All patients were men. The age of patients ranged between 47 and 70 years. Four patients presented with recent onset of unilateral proptosis, 1 patient presented with inflammatory manifestations, and 1 patient presented with unilateral ptosis. Pain was present in 4 patients. Three patients had a previous history of HCC, while the orbital affection was the first manifestation of the disease in 3 cases. All patients had chronic hepatitis C. CT scan of 5 patients showed a mass in upper lateral orbital quadrant, and 1 patient had the mass in the upper central orbit. Bone changes (thinning, notching, or erosion) were detected in all patients. Diagnosis was confirmed by incision biopsy in all cases. Life span of 5 patients in the study had a mean of 10.2 (±2.3) months.

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Purpose:To study the cosmetic outcome of external dacryocystorhinostomy (Ex-DCR) and to detect the factors affecting it.Patients and Methods:Prospective randomized interventional study included forty patients who were treated by 40 Ex-DCRs. In twenty patients, medial canthal vertical incision was used and in the other twenty cases, subciliary incision was used. The skin was closed using vicryl 6-0 or prolene 6-0 interrupted sutures, and each one was randomly used in twenty patients (10 patients of each incision type). Cosmetic outcome was evaluated 6 months postoperative by the patients and by an oculoplastic surgeon on a four grades scale. Cosmetic results and its correlation to patients’ age, sex, skin complexion, type of incision, and type of skin sutures were studied.Results:The mean scar grading was 0.98 ± 1.0 and 1.3 ± 1.0 in patients’ and examiner's assessment. About 27.5% described their scars as cosmetically significant. The cosmetic outcome was significantly affected by the type of incision with only 5% significant scars in subciliary incision group. Prolene 6-0 suture was associated with better cosmetic results with 15% significant scars. 50% of dark-skinned patients showed cosmetically significant scars. Although no correlation was found between patients’ age and cosmetic outcome, pediatric patients showed higher tendency to scar visibility with mean scar grade 1.2 ± 1.0 and 1.5 ± 0.9 in patients’ and examiner's assessment.Conclusion:Dark skinned and pediatric patients are more prone to visible Ex-DCR scar. The use of subciliary approach and prolene 6-0 skin sutures is associated with more favorable cosmetic outcome.

Aim: To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy (MCD). Methods:A clinical and molecular genetic study was performed on eleven patients from six families with MCD. Clinical diagnosis was confirmed by slit lamp biomicroscopy and histopathological examination of corneal buttons following keratoplasty. The coding region of the carbohydrate sulfotransferase (CHST6) gene was amplified by polymerase chain reaction (PCR) in all affected subjects. This was followed by direct sequencing and restriction digest analyses. Enzyme-linked immunosorbent assay (ELISA) of antigenic keratan sulfate (KS) in patients' serum was also performed.Results: Six homozygous mutations of which three are novel were identified within the coding region of CHST6 in six unrelated MCD families. The barely detectable level of antigenic KS in the serum of the affected individuals indicated that they all have MCD type I, including the subtype IA.Conclusions: This is the first report of molecular genetic analysis of MCD in the Egyptian population. Our data indicates the extensive allelic heterogeneity within CHST6 and further support its essential role in maintaining corneal transparency.3