Background:As there is paucity of data on Scrub typhus from Garhwal belt. So, to bridge this gap we conducted this study and tried to bring awareness about Scrub typhus. Methods: This is a descriptive study of 40 patients who were ELISA positive for Scrub typhus. A detailed history, demographic details, clinical features, complications, routine laboratory parameters and their relation with and without eschar was noted. Results: On analysis of demographic details, majority of scrub typhus patients belonged to Hilly district, Rudraprayag of Garhwal region. Common signs included fever (100%), lymphadenopathy and splenomegaly (70%), hepatomegaly (55%), rash (37%), eschar (35%), meningitis (20%), hepatitis and epistaxis (5%), pleural effusion, sub-conjunctival hemorrhage and ARDS (2.5%). Presence of eschar was strongly associated with abdominal pain, facial edema, meningitis and ARDS.Conclusion: Early diagnosis with high index of suspicion and timely treatment in children from hilly area with acute febrile illness decreases the mortality and leads to better prognosis.
Hunter’s disease or mucopolysaccharidosis (MPS II) is a rare X-linked recessive disorder caused by deficiency or malfunctioning of the lysosomal enzyme iduronate-2-sulfatase (IDS), leading to progressive accumulation of glycosaminoglycans in almost all cell types, tissues and organs which result in permanent, progressive cellular damage that affects the appearance, physical abilities, organ and system functioning and, in most cases, mental development. The common clinical presentations include facial dysmorphism, pulmonary dysfunction, hepatosplenomegaly, and skeletal defects including joint stiffness and contractures, cardiomyopathies, and neuropsychiatric manifestations. We present this case of MPS II with clinical presentation including coarse facies, short stature, and mental retardation. The diagnosis was confirmed by demonstrating the deficiency of IDS in plasma. We report this case to highlight the clinical features and to specify the mental and physical health perspective of a child with Hunter’s disease. Mental subnormality includes progressive cognitive deterioration that is not manageable with enzyme replacement therapy. Hence, the patient should undergo regular assessment and should be trained accordingly.
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