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Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis., Observation: The patient is a 7.5-month-old infant from a consanguineous marriage, with a history of bronchiolitis and psychomotor retardation. The infant was admitted to the paediatric intensive care unit due to respiratory distress, which necessitated intubation and mechanical ventilation. A chest X-ray revealed cardiomegaly and bilateral bronchial syndrome, while an electrocardiogram showed left ventricle hypertrophy. Emergency echocardiography revealed biventricular hypertrophy. Laboratory tests indicated significant rhabdomyolysis, hepatic cytolysis, microcytic hypochromic anemia, negative troponins, and respiratory acidosis. The enzymatic activity of acid alpha-glucosidase was inconclusive. Genetic analysis for mutations in exon 2 associated with Pompe disease and congenital muscular dystrophy, the most common differential diagnoses, returned negative results. Given the presence of rhabdomyolysis, the emergence of tongue fasciculations, and pronounced axial and peripheral hypotonia, a muscle biopsy was performed. This revealed the presence of nemaline rods, confirming the diagnosis of NM. The patient's condition deteriorated, marked by extubating failure due to severe muscle weakness. The infant passed away after 50 days of hospitalization., Conclusion: This case underscores the severity and complexity of NM revealed by hypertrophic cardiomyopathy, emphasizing the importance of early diagnosis and prenatal genetic counseling.

Introduction: Work-related open-globe injuries are a major cause of preventable vision loss worldwide with a significant socioeconomic impact., Aim: To describe the demographics and clinical characteristics, identify the prognostic factors of work-related open-globe injuries and suggest preventive measures to minimize the incidence of these accidents., Methods: A retrospective study of patients hospitalized in the Ophthalmology Department of Habib Bourguiba University Hospital, Sfax, Tunisia, for occupational open-globe injuries, between January 2020 and December 2022. A medical history and a complete ophthalmological examination were performed on all patients. Initial visual acuity (IVA) was systematically measured. We also studied the factors associated with poor final visual acuity (FVA). Poor visual prognosis was defined as an FVA of less than 1/10 six months after the trauma. Statistical analysis was performed using the system of Statistical Products and Services Solution (SPSS 26.0). A p-value less than 0.05 indicated statistical significance., Results: Thirty-three eyes of 33 patients with work-related open-globe injuries were analyzed. The mean age was 39 ± 11.75 years, with male predominance. Almost half of them, 48.5% were welders. Mechanism of injury was penetrating trauma in 72.7% of cases. The mean presenting IVA was 1/25. Corneal wounds were present in 20 cases. Traumatic cataract was the most common associated lesion and was found in 36.4% of the patients. Intraocular foreign body was noted in 24.2%. The mean FVA was 1.6/10. Initial VA (p=0.04) and VH (p=0.004) was the significant predictive factors for final visual outcome in work-related open-globe injury patients., Conclusion: Work-related open-globe injuries are a significant problem commonly encountered in healthcare settings throughout the world. It can cause significant morbidity in a young population of patients. This type of injury can be largely prevented with proper education and use of safety equipment.