Not all the bowlegs is rickets! (a case report).

Bowing of the legs is common in childhood. Most times it is considered to be rickets without considering other possibilities. Blount´s disease is a close differential diagnosis which is developmental deformity characterized by intorsion of tibia leading to varus angulation. This case report aims to encourage pediatricians to expand their vision and consider other possibilities when a case of bowing of legs is encountered. Here we report a case of a four-year-old boy with bowing of both legs noticed first at 2.5 years of age. There was no history suggestive of trauma. Development of the child was age appropriate in all domains. He was receiving treatment for rickets for 1.5 years in form of oral vitamin D3 and calcium supplementations. He had no other clinical signs of rickets like frontal bossing, widening of wrists, and rachitic rosary except bowing of legs. His biochemical parameters did not show any alterations that would support the diagnosis of rickets. Weight-bearing radiographs of lower limbs showed medial intorsion of bilateral tibia with metaphyseo-diaphysial angle to be 25º on the right side and 20º on the left side, which was beyond the physiological normal angulation, therefore he was diagnosed as a case of Blount´s disease, stage III as per Langenskiöld classification. All the bow legs is not always rickets in pediatric practice. Therefore, various differential diagnoses should be kept in mind as early diagnosis and intervention can change a child´s life.

Mucormycosis in a case of multisystem inflammatory syndrome in children: "double trouble" (case report).

Multisystem inflammatory syndrome (MIS-C) in the pediatric age group is a clinical syndrome in children and adolescents which is recognized in association with a high local prevalence of Corona Virus Disease-2019 (COVID-19). Mucormycosis is a severe form of fungal infection and often affects immunocompromised patients. It is associated with high morbidity and mortality and is characterized by extensive angioinvasion and necrosis of the affected tissue. Currently, this dreaded mucormycosis is rising among COVID-19 pediatric patients during their treatment period or after their discharge from the hospital. It is also called COVID-19- associated mucormycosis (CAM) or black fungus. In the head and neck area, rhino-orbital-cerebral mucormycosis is the most common presentation and a fatal clinical entity associated with COVID-19 infections. There are several cases of mucormycosis reported in cases with COVID-19 infection, but there is limited data available for the development of mucormycosis in MIS-C. Here, we report a case of a nine years old girl who developed mucormycosis while suffering from MIS-C. The patient was brought to our institute with complaints of fever for 3 days associated with redness of the eyes and swelling behind both ears and bilateral conjunctival congestion. Subsequently, she started showing signs of end organ damage in form oliguria and deranged liver function. Her COVID-19 antibody titer was positive and hence was diagnosed as MIS-C. She had prolonged hospitalization during which she started developing black discoloration over the nose. The histopathology report of the lesion was suggestive of mucormycosis. Eventually, the patient died due to multiple organ dysfunction. There is not only an association of mucormycosis in COVID-19- positive patients, but it shows some association with its complications like MIS-C. There is very limited data available for the association of mucormycosis and MIS-C but early diagnosis and intervention play a vital role in the outcome of the patient.

Prevalence of pulmonary hypertension among children with Down syndrome: A systematic review and meta-analysis.

BACKGROUND: Pulmonary hypertension (PH) has serious short- and long-term consequences. PH is gaining increasing importance in high risk groups such as Down syndrome (DS) as it influences their overall survival and prognosis. Hence, there is a dire need to collate the prevalence rates of PH in order to undertake definitive measures for early diagnosis and management. AIM: To determine the prevalence of PH in children with DS. METHODS: The authors individually conducted a search of electronic databases manually (Cochrane library, PubMed, EMBASE, Scopus, Web of Science). Data extraction and quality control were independently performed by two reviewers and a third reviewer resolved any conflicts of opinion. The words used in the literature search were "pulmonary hypertension" and "pulmonary arterial hypertension"; "Down syndrome" and "trisomy 21" and "prevalence". The data were analyzed by Comprehensive Meta-Analysis Software Version 2. Risk of bias assessment and STROBE checklist were used for quality assessment. RESULTS: Of 1578 articles identified, 17 were selected for final analysis. The pooled prevalence of PH in these studies was 25.5%. Subgroup analysis was carried out for age, gender, region, year of publication, risk of bias and etiology of PH. CONCLUSION: This review highlights the increasing prevalence of PH in children with DS. It is crucial for pediatricians to be aware of this morbid disease and channel their efforts towards earlier diagnosis and successful management. Community-based studies with a larger sample size of children with DS should be carried out to better characterize the epidemiology and underlying etiology of PH in DS.

Immune thrombocytopenic purpura secondary to SARS-CoV-2 infection in a child with acute lymphoblastic leukaemia: a case report and review of literature.

Immune thrombocytopenic purpura (ITP) is characterised by isolated thrombocytopenia which may be idiopathic or due to a secondary aetiology. ITP is being increasingly recognised secondary to SARS-CoV-2 infection in the current pandemic. Here, we report a case of a five-and-a-half-year-old female child on maintenance chemotherapy for acute lymphoblastic leukaemia who subsequently developed ITP secondary to SARS-CoV-2 infection. Our patient had prolonged thrombocytopenia secondary to ITP, requiring the use of second-line agents including romiplostim and eltrombopag. This is a unique case where ITP was recognised secondary to SARS-CoV-2. In such cases of thrombocytopenia, ITP should be considered as an important differential in addition to relapse of leukaemia or thrombocytopenia due to chemotherapy drugs.

Concurrent central diabetes insipidus and cerebral salt wasting disease in a post-operative case of craniopharyngioma: a case report.

BACKGROUND: Water and electrolyte disorders commonly encountered in children post-surgery involving hypothalamus and posterior pituitary, are central diabetes insipidus, syndrome of inappropriate secretion of anti-diuretic hormone and cerebral salt wasting disease. Delayed diagnosis and inadequate management of such cases may lead to worsened neurological outcomes with a high mortality rate. CASE PRESENTATION: Here we report the case of a 7-year-old girl who underwent surgical resection of a craniopharyngioma, following which she initially developed central diabetes insipidus. However, later on in the course of her illness she developed symptomatic hyponatremia with natriuresis which was diagnosed to be due to cerebral salt wasting disease. This combination of central diabetes insipidus and cerebral salt wasting syndrome is a rare occurrence and poses a diagnostic challenge. Diagnosis and management can be even more difficult when these conditions precede or coexist with each other. CONCLUSION: In such cases development of hyponatremia should always prompt consideration of unusual causes like cerebral salt wasting disease in addition to the classically described syndrome of inappropriate secretion of anti-diuretic hormone. Hence, a thorough knowledge of these disorders along with intensive monitoring of fluid and sodium status is critical for timely diagnosis and management of these patients.

Variation in pulmonary function tests among children with sickle cell anemia: a systematic review and meta-analysis.

INTRODUCTION: the spectrum of pulmonary complications in sickle cell anemia (SCA) comprises mainly of acute chest syndrome (ACS), pulmonary hypertension (PH) and airway hyper-responsiveness (AHR). This study was conducted to examine the abnormalities in pulmonary function tests (PFTs) seen in children with SCA. METHODS: electronic databases (Cochrane library, PubMed, EMBASE, Scopus, Web of Science) were used as data sources. Two authors independently reviewed studies. All case-control studies with PFT performed in patients with SCA and normal controls were reviewed. Pulmonary functions were assessed with the help of spirometry, lung volume and gas diffusion findings. RESULTS: nine studies with 788 SCA children and 1101 controls were analyzed. For all studies, the pooled mean difference for forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), FEV1/FVC ratio, peak expiratory flow rate (PEFR), total lung capacity (TLC) and carbon mono-oxide diffusing capacity (DLCO) were -12.67, (95% CI: -15.41,-9.94), -11.69, (95% CI: -14.24, -9.14), -1.90, (95% CI: -4.32, 0.52), -3.36 (95% CI: -6.69, -0.02), -7.35, (95% CI: -14.97, -0.27) and -4.68, (95% CI -20.64, -11.29) respectively. FEV1 and FVC and were the only parameters found to be significantly decreased. CONCLUSION: sickle cell anemia was associated with lower FEV1 and FVC, thus, supporting the role of routine monitoring for the progression of lung function decline in children with SCA with ACS. We recommend routine screening and lung function monitoring for early recognition of pulmonary function decline.

Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure.

Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the SETX gene have been implicated in ATX-SETX. We report the case of a 21-year-old woman presenting with ataxia, oculomotor apraxia and dystonia. She had elevated serum α-fetoprotein (AFP), follicle stimulating hormone (FSH) and luteinising hormone (LH) levels and moderate cerebellar atrophy. On further evaluation, she was found to have premature ovarian failure as well. Multiplex ligation-dependent probe amplification detected a heterozygous deletion in exon 6 of the SETX gene. A combination of cerebellar ataxia, oculomotor apraxia with elevated AFP and cerebellar atrophy are highly suggestive of ATX-SETX. In rare instances, it may be associated with premature ovarian failure with elevated FSH and LH levels, necessitating hormonal survey and fertility evaluation in all patients with ATX-SETX.

Red reflex test screening for neonates: A systematic review and meta analysis.

Red reflex test (RRT) screening is yet to be a part of the neonate's normal examination before discharge from hospital in a majority of low- and middle-income countries. The purpose was this review was to systematically evaluate the diagnostic accuracy of RRT for the detection of ocular abnormalities in newborns. PubMed, EMBASE, Scopus, Web of Science, and Cochrane database of systematic reviews were the data sources. Quality of Diagnostic Accuracy Studies-2 (QUADAS-2) was utilized for quality assessment of bias and applicability. Random effects models were used to summarize sensitivities, specificities, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and respective confidence intervals (CI). The pooled sensitivity, calculated from the meta analysis of 11 studies, was 23% (95% CI: 21-24%) and pooled specificity was 98% (95% CI: 98-98%). The PLR was 32.52 (95% CI: 7.89-134.15), NLR was less than 1 (0.69 [95% CI: 0.55-0.88]), and DOR calculated was 138.48 (95% CI: 23.85-803.97). The area under the curve (AUC) and Q* index for RRT were 0.98 ± 0.02 and 0.95 ± 0.045, respectively. The results of our study justify the conclusion that RRT is a highly sensitive and specific test for the detection of anterior segment abnormalities.

Choroid plexus carcinoma in an adolescent male: a case report.

INTRODUCTION/BACKGROUND: Although central nervous system tumors are the most common etiology of malignancies in the pediatric age group, choroid plexus carcinomas are rare, with an annual incidence rate of 0.10 per 100,000 children. CASE PRESENTATION: We report the case of an adolescent male belonging to central India who had presented with a history of persistent headache, projectile vomiting, neck stiffness, and an episode of generalized tonic-clonic seizure. Neurological examination was suggestive of a space-occupying lesion. Further neuroimaging was suggestive of a large left-sided choroid plexus carcinoma, later confirmed on pathological examination. Gross total resection was achieved and followed by radiation therapy. His recovery was satisfactory without any major events despite suffering from such a malignancy with a poor prognosis. CONCLUSION: In the absence of a global consensus on choroid plexus carcinoma management, our patient underwent a successful gross total resection and received postoperative radiotherapy. He made a satisfactory recovery with a further plan to review with gadolinium-enhanced neuroimaging at a later date. We conclude that, when possible, achieving gross total resection is of utmost importance.

Critical Congenital Heart Disease in Neonates: A Review Article.

Critical congenital heart defects (CCHDs) are serious malformations that remain to be an important cause of neonatal mortality and morbidity. The clinical presentations of CCHD are shock, cyanosis, or respiratory distress, which may be similar to that of other neonatal conditions. Failure to diagnose these conditions early on after birth may result in acute cardiovascular collapse and death. Screening with routine pulse oximetry is efficient in distinguishing newborns with CCHD and other hypoxemic illnesses, which may otherwise be potentially life-threatening. If the cardiovascular system cannot be observed by echocardiography, then treatment with continuous prostaglandin-E1(PGE1) infusion should be started in any newborn whose condition deteriorates in the first few days of life. This review aims to provide a concise summary of the presentation and management of various CCHDs and to emphasize the role of timely diagnosis in the management.

Concurrent diabetic ketoacidosis and pancreatitis in Paediatric acute lymphoblastic leukemia receiving L-asparaginase.

BACKGROUND: Although hyperglycemia and pancreatitis are known side effects of L-asparaginase, both contributing to the development of diabetic ketoacidosis (DKA) is unfamiliar in literature. CASE PRESENTATION: We report a case of an adolescent girl, recently diagnosed with ALL, who presented with pain in abdomen and breathing difficulty following chemotherapy with L-asparaginase. On subsequent evaluation, she was found to have high anion gap metabolic acidosis, hyperglycemia and ketonuria. Ultrasonogram showed bulky pancreas. DKA was managed with fluid correction and insulin infusion. Pancreatitis was managed conservatively. She recovered completely with resolution of symptoms and without any major adverse events despite having such severe complications. CONCLUSION: We conclude that the combination of DKA and pancreatitis is a rare occurrence with significant morbidity and mortality. We recommend a close monitoring of blood glucose levels for hyperglycemia as well as a high index of clinical suspicion for pancreatitis in patients with ALL receiving L-asparaginase.