Thiamine-responsive, life-threatening, pulmonary hypertensive crisis with encephalopathy in young infants: A case series.

OBJECTIVE: Thiamine (Vitamin B1) deficiency (TD), although reduced in incidence, is still seen in infants. We describe a rarely reported form of infantile TD with life-threatening pulmonary hypertensive crisis and severe encephalopathy, with dramatic response to thiamine supplementation. METHODS: Study design: Descriptive case series. Six young infants with mean age 76 days (range 1-3 months), manifesting rapidly progressive encephalopathy and cardio-pulmonary arrest were included. All infants underwent cardiac, neuroimaging and metabolic evaluations. RESULTS: All six infants had similar presentation with severe pulmonary arterial hypertension (PAH), hypotensive shock, metabolic acidosis and severe encephalopathy. All infants were exclusively breast-fed. Thiamine treatmwnt resulted in dramatic improvement in haemodynamic and neurological function in all the infants. There were no major neurological deficits on follow up. CONCLUSION: A high index of suspicion is warranted for this rarely described form of TD, as early identification helps in preventing mortality and morbidity.

The spectrum of acute leukoencephalopathy with restricted diffusion (ALERD): A case series and review of literature.

INTRODUCTION: The clinico-etiological spectrum of Acute leukoencephalopathy with restricted diffusion (ALERD) is not well known in Indian population. This is likely to vary between populations and ethnicities. METHODS: We retrospectively reviewed the clinicoetiological spectrum of ALERD at a tertiary care pediatric center, and described the clinical, imaging, etiological spectrum and short-term outcomes. RESULTS: Eleven out of 78 children with non-traumatic encephalopathy presenting to our center had a final diagnosis of ALERD. The mean age at presentation was 34.9 months (6-80 months) and 63.6% were males. The monophasic course (72.7%) and the diffuse pattern (63.6%) on neuroimaging were predominant in these children. Dengue haemorrhagic fever was the commonest underlying/triggering infection (5 of 11 children). Ten children required mechanical ventilation in view of neurogenic respiratory failure, with mean duration of ventilation of 6.4 days (Range 2-10 days). The duration of hospital stay varied from 11 to 25 days (Mean - 15.3 days). One child (9 %) died, 6 children (54.5 %) had varying degrees of cognitive impairment and 4 (36.3 %) children had a normal outcome. Children with a shorter duration of ventilation seemed to have a better outcome. CONCLUSION: Dengue haemorrhagic fever was the commonest cause, and diffuse imaging pattern with monophasic course was the commonest presentation in Indian children with ALERD. The clinical presentation and factors influencing outcome are possibly different from previously described literature.

Possible aggravating impact of gene polymorphism in women with endometriosis.

BACKGROUND & OBJECTIVE: Endometriosis is one of the most commonly encountered benign problems in gynaecology. It is frequently associated with chronic pelvic pain, dysmenorrhoea, menorrhagia and dyspareunia, which lead to infertility. To determine the possible association between polychlorinated biphenyls (PCBs) and GSTM1 null (*0/*0) mutation and their possible impact in the pathogenesis of endometriosis. METHODS: Ninety seven women with endometriosis mean age (28.5 +/- 6.5 yr) diagnosed by laparoscopy and 102 women without endometriosis (28.4 +/- 4.8 yr) were included. Heparinised blood samples were collected from all for DNA isolation and estimation of PCBs. GSTM1 genotyping was done by PCR and PCBs were estimated by gas chromatography. RESULTS: Women with endometriosis showed significantly higher concentrations of PCBs compared with control group. Twenty six (26.8%) women with endometriosis and 15 (14.7%) of the controls had the GSTM1 null (*0/*0) genotype [odds ratio (OR = 2.12, 95% confidence interval (CI) = 1.045-4.314], which showed significant association (P = 0.03) with endometriosis. The association between the concentrations of PCBs, GSTM1 null genotype and different severity of endometriosis was significant (P<0.05) for all four compounds and GSTM1 (PCB1: r = +0.5388, P<0.0001; PCB5: r = +0.6753, P<0.0001; PCB29: r = +0.6471, P<0.0001; and PCB98: r = +0.4357, P<0.0001; GSTM1: r = +0.9439, P = 0.05). INTERPRETATION & CONCLUSION: The study results suggested that women having higher concentration of PCBs and GSTM1 null (*0/*0) polymorphism might have an increased susceptibility of endometriosis. The findings need to be confirmed in a larger sample.

High plasma concentrations of polychlorinated biphenyls and phthalate esters in women with endometriosis: a prospective case control study.

The objective of this study was to detect the probable association between polychlorinated biphenyls (PCBs) and phthalate esters (PEs), and the occurrence of endometriosis in a prospective case control study. We found that PCBs and PEs may be instrumental in the etiology of endometriosis.