ABSTRACT
The "chik sign" is considered to be one of the most common cutaneous features of chikungunya fever and has been considered unique to this disorder. It consists of brownish hyperpigmentation involving the nose. We report a case of a 3-year-old boy with dengue infection who presented with macular hyperpigmentation of nose simulating the chik sign. Hyperpigmentation is an unusual cutaneous manifestation in cases of dengue.
Subject(s)
Dengue/pathology , Hyperpigmentation/pathology , Hyperpigmentation/virology , Child, Preschool , Humans , MaleABSTRACT
Amitraz is an acaricide and insecticide used to treat ticks, which infest domestic animals in developing countries. Because of its widespread use, it is one of the common poisons unintentionally consumed by infants and children when left unsupervised. A 3-year-old boy was brought with unintentional consumption of Amitraz. On examination, he was found to be progressively drowsy, with an irregular pulse, bradycardia, and hypotension. He was treated with atropine, intravenous fluids, and dopamine infusion; hemodynamic stability was achieved within 36 hours after ingestion. Amitraz is an unusual but deadly poison unintentionally consumed by children. It can be suspected in the setting of rural households in developing countries having pets. There is no antidote available, and treatment is mainly supportive.
Subject(s)
Adrenergic alpha-2 Receptor Agonists/poisoning , Pesticides/poisoning , Toluidines/poisoning , Adrenergic alpha-2 Receptor Agonists/pharmacology , Blood Pressure/drug effects , Central Nervous System/drug effects , Child, Preschool , Fluid Therapy , Glycosuria/chemically induced , Heart Rate/drug effects , Humans , Male , Pesticides/pharmacology , Polyuria/chemically induced , Toluidines/pharmacologyABSTRACT
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme ß-d-galactosidase. In this study, we report molecular findings in 50 Asian Indian families with GM1 gangliosidosis. We sequenced all the exons and flanking intronic sequences of GLB1 gene. We identified 33 different mutations (20 novel and 13 previously reported). The novel mutations include 12 missense (p.M1?, p.E129Q, p.G134R, p.L236P, p.G262E, p.L297F, p.Y331C, p.G414V, p.K493N, p.L514P, p.P597L, p.T600I), four splicing (c.246-2A>G, c.397-2A>G, c.552+1G>T, c.956-2A>G), three indels (p.R22Qfs*8, p.L24Cfs*47, p.I489Qfs*4) and one nonsense mutation (p.Q452*). Most common mutations identified in this study were c.75+2InsT (14%) and p.L337P (10%). Known mutations accounted for 67% of allele frequency in our cohort of patients, suggesting that these mutations in GLB1 are recurrent across different populations. Twenty three mutations were localized in the TIM barrel domain, ß-domain 1 and ß-domain 2. In silico sequence and structure analysis of GLB1 reveal that all the novel mutations affect the function and structure of the protein. We hereby report on the largest series of patients with GM1 gangliosidosis and the first from India.
