Laron syndrome (LS) is a rare, genetic disorder inherited in an autosomal recessive manner. The disease is caused by mutations of the growth hormone (GH) gene, leading to GH/insulin-like growth factor type 1 (IGF1) signalling pathway defect. A 13-month-old, male child, born of second-degree consanguineous marriage presented with short stature (57 cm, below- 3 SD) with normal head size, mild motor developmental delay, micropenis and bone age of 9 months. Basal GH was 28.7 ng/ml (normal 1-13.6 ng/ml). IGF-1 was less than 20 ng/ml (normal up to 170 ng/ml). GH stimulation test done using clonidine revealed increased levels. Post stimulation levels at 30 min, 60 min, 90 min (ng/ml) were 29.3, 37.9, 29.3 respectively, which was suggestive of resistance to GH that is laron dwarfism. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1). This case is being reported for its rarity and early detection.

Background: ARV1 mutation is known to present as Developmental epileptic encephalopathy (DEE)-38. However, the phenotypic spectrum has been expanding ever since it was reported in 2016. Along with the seizures and developmental delay other unique clinical features include ophthalmological abnormalities and movement disorders in the form of ataxia and dystonia especially in those with missense mutation. These manifestations mimic the common ataxia telangiectasia. Elevation of alpha feto-protein levels is an important investigative marker in the diagnosis of ataxia telangiectasia and some ataxia with oculomotor apraxia syndromes. ARV1can also be associated with increased alpha feto-protein. There are no reports evaluating alpha feto-protein levels in ARV1 mutation, which is significant in the context of ocular abnormalities with ataxia. Results: We report a case of ARV1 mutation presenting with ataxia, ocular abnormalities and elevated alpha feto-protein levels, thus mimicking autosomal recessive cerebellar ataxias. This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. Conclusion: ARV1gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is a common presentation, a few of them especially those with missense mutations can present with ataxia and ocular abnormalities. All cases with ataxia who have increased alpha feto-protein levels and seizures should be tested for ARV1 gene when testing for ataxia genes is negative. Underlying genetic mechanism can explain the varying clinical manifestations of ARV1 gene.

Background: There is a rise in prevalence of asthma world-over. This study was undertaken as there are controversies regarding the effect of long term inhaled-corticosteroids (ICS) on bone mineral density (BMD).Methods: Asthmatic children belonging to 5-18 year age-group as per the global initiative for asthma guidelines (GINA) guidelines, who were on ICS for a minimum period of 6 months were studied. This study was conducted at a tertiary-care teaching hospital in Mysuru. 60 asthmatic children were compared with 60 non-asthmatic controls. Dual-energy x-ray absorptiometry at 6 sites was used for estimating the BMD and vitamin D levels were measured.Results: 0.771±0.114 g/cm2 was the mean total BMD among children on low dose ICS, while it was 0.613±0.192 and 0.564±0.104 g/cm2 respectively for those on medium and high dose ICS, with p value of 0.026. Children on low dose ICS did not have any impact on BMD, while 18.9% of those on medium and high dose ICS had a reduced total BMD. Trochanteric region was a useful predictor site for monitoring BMD in children on long term ICS with 38.7% and 68.9% being affected when on ICS for 6-12 months and more than 12 months respectively (p=0.018).Conclusions: The ICS of medium and high dose, for a duration of more than 6 months had a reduced total BMD. However, no effect was seen with low dose. Trochanter is a useful site for long term monitoring of BMD in children. There was no correlation between vitamin D levels and control of asthma.

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Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by multisystem inflammation and the presence of circulating autoantibodies directed against self-antigens. Prevalence of SLE in children and adolescents is 1-6 per 100,000 population. Liver dysfunction occurs in approximately in 50-60% of the patients with SLE.And the incidence of lupus hepatitis in diagnosed SLE patients is 9.3%. We are reporting a case of 11-year-old female child who presented with fever, skin rashes, oral ulcers, irritability and positive antinuclear antibody (ANA) with deranged liver function test (LFT) in the form of elevated transaminases, bilirubin level and altered coagulation profile. Hepatitis serology was negative, with low C3 levels, diagnosed as SLE with lupus hepatitis with lupus nephritis stage IV with psychosis. Clinical improvement along with improvement in terms of laboratory findings was seen on corticosteroids therapy. It is important to differentiate lupus hepatitis from autoimmune hepatitis (AIH) as AIH presents similar to lupus hepatitis, has poor prognosis. While lupus hepatitis being rare cause for mortality in patients with SLE has good response with early intervention with corticosteroids therapy.