Objectives: The objectives of the study were to characterize the clinical profile of childhood leprosy presenting at tertiary leprosy care hospitals in the states of Bihar, West Bengal and Uttar Pradesh in India, and to determine the possible risk factors associated with disabilities at presentation. Methods: Subjects were children with newly diagnosed leprosy registered for treatment at tertiary Leprosy Mission Hospitals in Muzaffarpur (Bihar), Purulia (West Bengal) and Faizabad (Uttar Pradesh), India, between June and December 2019. Demographic and leprosy characteristics were collected at the time of diagnosis. Parents/guardians were interviewed on reasons for delay in presenting at the hospital. Associations between various factors and delay in diagnosis were assessed. Results: Among the 84 children, the mean (SD) age was 10 (3) years with a range of 4–14 years. There were more boys (58%) and most children were currently in school (93%), resident in rural areas (90%) and belonged to a lower socioeconomic status (68%). More children were diagnosed with multibacillary leprosy (69%), one-third of them being skin smear positive for Mycobacterium leprae. On presentation, 17% had deformity (5% grade 1 deformity and 12% grade 2), 29% had nerve involvement and skin lesions were spread across the body in half of the children. Mean (SD) duration of delay was 10.5 (9.8) months. Delayed presentation was more in boys (43% vs. 17%; P = 0.01), those without a history of migration for work compared to those who had a history of migration (40% vs. 9%; P = 0.008) and in those children who were from a poor economic status compared with those that came from a better economic status (44% vs. 7%; P = 0.001) Limitations: Because our study was conducted at tertiary care hospitals, the findings are not representative of the situation in the field. Furthermore, a comparison group of newly diagnosed adult leprosy patients with disability could have been included in the study. Conclusion: Childhood leprosy continues to occur in endemic pockets in India and a substantial number present with skin smear positivity and deformity. Guardians of these children cite many reasons for the delay in presentation.

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Background and Objectives: hATTR is a rare autosomal-dominant systemic disease with variable penetrance and heterogeneous clinical presentation. Several effective treatments can reduce mortality and disability, though diagnosis remains challenging, especially in the US where disease is non-endemic. Our aim is to describe the neurologic and cardiac characteristics of common US ATTR variants V122I, L58H and late-onset V30M at presentation.Methods:We conducted a retrospective case series of patients with a new diagnosis of ATTRv between January 2008 and January 2020 to characterize features of prominent US variants The neurological (examination, EMG, skin biopsy), cardiac (echo) and laboratory assessments (proBNP, reversible neuropathy screens) are described.Results:56 patients with treatment-naïve ATTRv with symptoms/signs of peripheral neuropathy or cardiomyopathy and confirmatory genetic testing presenting with Val122Ile (N=31), late-onset Val30Met (N=12) and Leu58His ATTRv (N=13) were included. The age at onset and gender distributions were similar (V122I: 71.5±8.0, V30M: 64.8±2.6, L58H: 62.4±9.8years; 26, 25, 31% female).Only 10% of patients with V122I and 17% of patients with V30M were aware of an ATTRv family history, while 69% of patients with L58H were. Peripheral neuropathy was present in all three variants at diagnosis (90, 100, 100%) though neurological impairment scores differed: V122I: 22±16, V30M: 61±31 and L58H: 57±25. Most points (deficits) were attributed to loss of strength. Carpal tunnel syndrome (CTS) and a positive Romberg sign were common across all groups (V122I: 97%, 39%; V30M: 58%, 58%; L58H: 77%, 77%).ProBNP levels and interventricular septum thickness were highest among patients with V122I (5939±962pg/mL, 1.70±0.29cm) followed by V30M (796±970pg/mL, 1.42±0.38cm) and L58H (404±677pg/mL, 1.23±0.36cm). Atrial fibrillation was present among 39% of V122I cases and only 8% of V30M and L58H cases. Gastrointestinal symptoms were rare (6%) among patients with V122I and common in patients with V30M (42%) and L58H (54%).Discussion:Important clinical differences exist between ATTRv genotypes. While V122I is perceived to be a cardiac disease, peripheral neuropathy is common and clinically relevant. Most patients with V30M and V122I were diagnosed de-novo and therefore require clinical suspicion for diagnosis.A history of CTS and a positive Romberg sign are helpful diagnostic clues.