Eastern India Collaboration on Multisystem Inflammatory Syndrome in Children (EICOMISC): A Multicenter Observational Study of 134 Cases.

Background: Few single center studies from resource-poor settings have reported about the epidemiology, clinical feature and outcome of multisystem inflammatory syndrome in children (MIS-C). However, larger data from multi-center studies on the same is lacking including from Indian setting. Methods: This retrospective collaborative study constituted of data collected on MIS-C from five tertiary care teaching hospitals from Eastern India. Children ≤ 15 years of age with MIS-C as per the WHO criteria were included. Primary outcome was mortality. Results: A total of 134 MIS-C cases were included (median age, 84 months; males constituted 66.7%). Fever was a universal finding. Rash was present in 40%, and conjunctivitis in 71% cases. Gastro-intestinal and respiratory symptoms were observed in 50.7% and 39.6% cases, respectively. Co-morbidity was present in 23.9% cases. Shock at admission was noted in 35%, and 27.38% required mechanical ventilation. Fifteen (11.2%) children died. The coronary abnormalities got normalized during follow-up in all except in one child. Initial choice of immunomodulation had no effect on the outcomes. Presence of underlying co-morbidity, lymphopenia, thrombocytosis, hyponatremia, increased LDH (>300 U/L), and hypoalbuminemia were the factors significantly associated an increased mortality. Conclusions: MIS-C has myriad of manifestations. Underlying co-morbidity, lymphopenia, thrombocytosis, hyponatremia, increased LDH (>300 U/L), and hypoalbuminemia were associated with an increased mortality. No difference in outcome was noted with either steroid or IVIg or both. Coronary artery abnormalities resolved in nearly all cases.

A Rare Association of Pentalogy of Fallot with Situs Inversus Totalis Complicated by Brain Abscess in an Adolescent-Case Report.

Tetralogy of Fallot (TOF) is the most frequently diagnosed congenital cyanotic heart disease. It is often associated with additional findings, such as atrial septal defect (i.e., pentalogy of Fallot) or right sided aortic arch. Association of this pentalogy of Fallot with situs inversus totalis is rarely reported in paediatric literature and it can cause technical challenges to intracardiac repair. We report the case of pentalogy of Fallot with dextrocardia and situs inversus presenting as parieto-occipital abscess in a 12-year-old child. Complicated cardiac malformation like this when associated with brain abscess pose several challenges to the anaesthetist due to the altered haemodynamics and warrant a meticulous anaesthetic as well as surgical plan.

Clinical Profile of Dengue Fever in Children: A Study from Southern Odisha, India.

Background. In India, dengue epidemics are becoming more frequent (WHO, 2008). The majority of dengue viral infections are self-limiting, but complications may cause high morbidity and mortality. Objectives. To assess the clinical profile of the dengue infection in children less than 14 years of age and to evaluate the outcomes of dengue fever from September 2013 to August 2015 at the Pediatric Department of Maharaja Krishna Chandra Gajapati Medical College, the largest tertiary care hospital of southern Odisha. Results. A total of 97 cases were classified into 84 (86.59%) nonsevere and 13 (13.40%) severe dengue cases. The most common age of presentation was above 11 yrs. The mean age of admission was 8.7 yrs. The most common presenting symptom was fever seen in 100% and hepatomegaly (43.8%), the most common physical finding. Gastrointestinal bleeding was markedly seen in severe dengue (76.9%). Elevation in aspartate transaminase (SGOT) was found in 47.42% and thrombocytopenia in 27.5%. The correlation between hepatomegaly and elevated SGOT was significant (P value 0.0346). Case fatality rate (CFR) was 1.03%. The mean duration of hospitalisation was 3.8 days. Conclusion. In children, if symptoms like fever, pain, rashes, and vomiting are associated with hepatomegaly and elevated SGOT in context of low TPC, a strong possibility of dengue fever is present, especially in an epidemic setting. Early suspicion and effective management can reduce the severity.

Robinow Syndrome: A Rare Diagnosis.

Robinow syndrome is a rare entity characterized by short stature and abnormalities of the head, face and external genitalia. It is otherwise called 'fetal face syndrome' due to its resemblance with fetal face. We present an eight-year-old female child who came with mesomelic short stature, abnormal facial features, multiple sets of teeth (both deciduous and permanent), pectus excavatum, umbilical hernia, limb abnormalities like shortening of fore arm, simian crease, broad thumbs and other fingers, clinodactyly, abnormal carrying angle, absent labia minora, absent clitoris. Apart from physical appearance she was having diversification of recti and umbilical hernia. Due to the several physical presentation mild systemic involvement it was diagnosed as autosomal dominant robinow syndrome. She is now on follow up and planned for a cosmetic surgery to repair facial defects.

Case reports on atypical presentation of Plasmodium falciparum malaria in pediatric patients.

Variable atypical symptoms are commonly observed in malaria caused by Plasmodium falciparum especially in endemic tropical nations such as India. Nystagmus is observed following involvement of the cerebellum especially during the postrecovery phase. While psychotic features such as severe agitation, hallucination, paranoia may be the early symptoms of falciparum malaria among pediatric patients, urticaria with or without fever can be the initial manifestation of the disease. As the morbidity and mortality of severe malaria are very high in India, these atypical presentations should be considered during diagnosis. We believe our report on atypical cases of falciparum malaria will sensitize doctors and health personnel about rare presentations in children and help in early diagnosis and management to reduce the severity and death toll due to the disease.

Rubinstein-Taybi syndrome with agenesis of corpus callosum.

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Systemic abnormalities such as repeated infection, seizure with developmental delay were also associated with it. She was having head banging behavior abnormal slurring speech, incoordination while transferring things from one hand to other. Galaxy of clinical pictures and magnetic resonance imaging report helped to clinch the diagnosis as a case of "RSTS with corpus callosal agenesis" which to the best of our knowledge has never been reported in past from India.

Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.

OBJECTIVE: Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS. In AD Robinow patients, oral manifestations are more prominent, while hemivertebrae and scoliosis rarely occur and facial abnormalities tend to be milder. METHODS: Three unrelated patients from different parts of India were studied. These patients were diagnosed as RRS due to presence of characteristic fetal facies, mesomelia, short stature, micropenis, hemivertebrae and rib abnormalities. One of the patients had fetal facies and micropenis but unusually mild skeletal features. This patient's mother had mild affection in the form of short stature and prominent eyes. Testosterone response to human chorionic gonadotropin was investigated in two patients and were normal. The exons and exon-intron boundaries of the ROR2 gene were sequenced for all probands. Bioinformatics analysis was done for putative variants using SIFT, PolyPhen2 and Mutation Taster. RESULTS: Patients 1, 2 and 3 were homozygous for c.G545A or p.C182Y in exon 5, c.227G>A or p.G76D in exon 3 and c.668G>A or p.C223Y in exon 6 respectively. Prenatal diagnosis could be performed in an ongoing pregnancy in one family and the fetus was confirmed to be unaffected. CONCLUSION: ROR2 mutations were documented for the first time in the Indian population. Knowledge of the molecular basis of the disorder served to provide accurate counseling and prenatal diagnosis to the families.