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Introduction and importance: Hurler syndrome, also known as mucopolysaccharidoses type I, is a rare autosomal recessive lysosomal storage disorder with decreased activities of α-L iduronidase, resulting in the accumulation of glycosaminoglycans (GAGs) within various tissues. Case presentation: The authors presented a case report of a 15-year-old male who presented with a lower respiratory tract infection and was admitted to the pediatrics department with a history of facial dysmorphism, skeletal abnormalities, and corneal clouding and below-normal cognitive function which is consistent with the Hurler-Scheie syndrome. Skeletal abnormalities include inverted j-shaped sella turcica, bullet-shaped phalanges, thoracolumbar kyphosis, and acetabular dysplasia. Clinical discussion: Mucopolysaccharidosis I is classically divided into three syndromes, that is, Hurler syndrome (the severe form), Hurler-Scheie syndrome (the intermediate form), and Scheie syndrome (the attenuated form). Most of a doctor's first diagnosis is based on their observation of the signs and symptoms. Conclusion: Early disease diagnosis, genetic counseling, and regular follow-up with recent treatment modalities can reduce mortality significantly and improve the child's health status.

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Introduction: Acute organophosphorus pesticide poisoning is widespread and the most common in many developing countries, including Nepal. Through the inhibition of acetylcholinesterase, organophosphorus poisoning is characterised by the clinical picture of acute cholinergic crisis. Many researchers have shown increased levels of liver enzymes and decreased levels of serum cholinesterase in organophosphorus poisoning, however, very little work has been done in Nepal that studies the correlation between serum cholinesterase and liver enzymes in organophosphorus poisoning. The aim of the study is to find out the mean cholinesterase level among organophosphorus poisoning patients visiting the Emergency Department in a tertiary care centre. Methods: This was a descriptive cross-sectional study done among 94 organophosphate poisoning cases visiting the emergency department of a tertiary care centre from August 2021 to August 2022 after obtaining approval from the Institutional Review Committee (Reference number: 04102021/06). Convenience sampling was done. Blood workups were done for cholinesterase and liver function tests. Point estimate and 90% Confidence Interval were calculated. Results: The mean cholinesterase level among organophosphorus poisoning patients was 1978.82±1878.22 (1660.17-2297.47, 90% Confidence Interval). Conclusions: The mean cholinesterase level among organophosphorus poisoning patients was similar when compared to other studies done in similar settings. Keywords: cholinesterases; liver function tests; organophosphorus poisoning.

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Congenital Adrenal Hyperplasia is a group of autosomal recessive diseases due to deficiencies of enzymes involved in steroidogenesis. If not diagnosed and treated adequately, Congenital Adrenal Hyperplasia can lead to an acute adrenal crisis with hemodynamic collapse. Acute stressors and steroid insufficiency precipitate an adrenal crisis. The major clinical features are hypotension and volume depletion. Nonspecific symptoms such as fatigue, lack of energy, anorexia, nausea, vomiting, and abdominal pain are common. We report a case of a 3-year male previously diagnosed with congenital adrenal hyperplasia in adrenal crisis secondary to medicine noncompliance and gastroenteritis. The diagnosis was based on the clinical history and biochemical investigations. After initial resuscitation was managed; lifelong oral prednisolone and fludrocortisone were prescribed. Keywords: adrenal insufficiency; gastroenteritis; glucocorticoids.

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Introduction: Sepsis is a life-threatening organ dysfunction caused by a dysregulated host response to infection. Serum lactate is useful in predicting the prognosis of critically ill patients. Elevated blood lactate levels as well as delayed clearance have been linked to higher mortality in sepsis. Shock index is a simple and effective bedside assessment means of gauging the degree of shock and is an important predictor of identifying high-risk patients. Monitoring lactate levels may aid clinicians in understanding tissue perfusion and detecting unrecognized shock and making prompt therapy adjustments. This study aimed to find out the mean serum lactate levels in patients with sepsis presenting to the Department of Emergency Medicine of a tertiary care centre. Methods: A descriptive cross-sectional study was conducted at a tertiary care centre among the patient with sepsis presenting to the emergency department from 1 September 2022 to 30 November 2022. Ethical approval was obtained from the Institutional Review Committee of a tertiary care centre (Reference number: 26082022/02). History taking and detailed examination were done. Blood was sent for serum lactate and other parameters as proforma was sent. The shock index was calculated. Convenience sampling was done. Point estimate and 95% confidence interval were calculated. Results: Among 53 sepsis patients, the mean serum lactate level in sepsis patients was 2.84+2.02 (male: 2.83+1.70 and female: 2.85+2.42). Conclusions: The mean serum lactate level in patients with sepsis is similar as compared the studies done in similar settings. Keywords: emergencies; lactate; sepsis.

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Paraquat emerges as a formidable medical dilemma in Southeast Asia, its toxic effects attributed to the generation of free radicals and oxidative stress, with a specific predilection for diverse tissues, most notably the lungs. The scarcity of effective treatment modalities in resource-constrained settings magnifies the magnitude of the paraquat poisoning predicament. This report outlines the successful management of a 25-year-old man who ingested a lethal dose of paraquat. The patient presented solely with dysphagia devoid of accompanying symptoms, regardless of ingesting a fatal quantity of paraquat. The diagnosis was made based on history and a thorough clinical examination. Early, aggressive treatment with pulse therapy of steroids and antioxidants led to unexpected and quirky recovery. The case stresses the importance of prompt management and highlights the need for more research and public education to prevent future cases. Keywords: antioxidants; case reports; corrosive; paraquat; steroids.

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