Shrikiran Hebbar

Fatal case of Naegleria fowleri meningo-encephalitis in an infant: case report

Abstract Primary amoebic meningo-encephalitis (PAM) is extremely rare and is caused by Naegleria fowleri. It is ?commonly seen in older children who swim in water contaminated with Naegleria species. It is very rare to contract the illness by any other means. We report a case of PAM in an infant aged 6 months. To the best of our knowledge, only one other case of PAM in an infant has been reported from India. A high index of suspicion is required in infants who manifest similarly to pyogenic meningitis but whose CSF shows no bacterial organisms so that a wet mount of a CSF sample can be done for early detection of Naegleria fowleri infection and appropriate intervention.

Recurrent and novel GLB1 mutations in India.

GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme β-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, β-domain 1 and β-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.

Primary Amoebic Meningoencephalitis in an Infant due to Naegleria fowleri

Primary amoebic meningoencephalitis (PAM) caused by free-living amebae Naegleria fowleri is a rare and fatal condition. A fatal case of primary amoebic meningoencephalitis was diagnosed in a 5-month-old infant who presented with the history of decrease breast feeding, fever, vomiting, and abnormal body movements. Trophozoites of Naegleria fowleri were detected in the direct microscopic examination of CSF and infant was put on amphotericin B and ceftazidime. Patient condition deteriorated, and he was discharged against medical advice and subsequently expired. We also reviewed previously reported 8 Indian cases of primary amoebic meningoencephalitis (PAM) and observed that for the last 5 years, none of the patients responded to amphotericin B. Has an era of amphotericin B-resistant Naegleria fowleri been emerged? Management strategy of PAM needs to be reviewed further.

Antigolgi antibodies in a case of autoimmune haemolytic anemia: a case report

Abstract Antibodies against the Golgi complex (AGAs) have been reported rarely and are associated with disorders like systemic lupus erythematosus, Sjogrens syndrome and rheumatoid arthritis. We report a case of autoimmune haemolytic anemia with Antigolgi antibodies, the first such case in medical literature.