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Casamassima-Morton-Nance syndrome (CMNS) includes a heterogeneous group of spondylocostal dysostosis along with anal atresia and genitourinary abnormalities. In 1981, Casamassima et al first described the syndrome in a fetus, and since then, only seven such cases have been reported so far. CMNS phenotype shows a significant clinical variability as documented in the reported cases. Etiology remains unknown yet, and it carries a poor prognosis. Here, we reported on a young female infant born out of nonconsanguineous marriage with normal karyotype and spondylocostal dysostosis, anal and genitourinary malformations suggesting CMNS. Ours is the eighth, and first case entity of CMNS reported from Asia as per the literature search. In our case, the additional feature of bilateral clubfoot has not been documented earlier in the literature. It extends the clinical spectrum of the syndrome and prompts us to consider it a close differential diagnosis to VACTERL (vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula/esophageal atresia, renal anomalies, limb abnormalities) syndrome, which is commonly known and diagnosed. It also raises the question of whether cases of CMNS are being misdiagnosed as VACTERL syndrome due to its rarity.
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Musculocontractural Ehlers-Danlos syndrome (MC-EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in CHST14 was detected by exome sequencing.
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Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton's criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.
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Enfermedades del Tejido Conjuntivo , Síndrome de Goldenhar , Síndrome de Loeys-Dietz , Enfermedades Cutáneas Genéticas , Masculino , Humanos , Preescolar , Síndrome de Goldenhar/diagnóstico , Síndrome de Loeys-Dietz/complicaciones , Oído Externo/anomalías , Enfermedades del Tejido Conjuntivo/complicaciones , Enfermedades Cutáneas Genéticas/complicacionesRESUMEN
A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents' HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.
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Polidactilia , Sindactilia , Talasemia , Talasemia beta , Humanos , Lactante , Masculino , Talasemia beta/complicaciones , Talasemia beta/diagnóstico , Talasemia beta/genética , Variación Biológica Poblacional , Polidactilia/diagnóstico , Sindactilia/genéticaRESUMEN
Neutrophil lymphocyte ratio (NLR), an easy and readily available biomarker of systemic inflammation, has been less studied so far as a putative marker of asthma control. Our study aimed to assess its feasibility. A total of 90 asthmatic children, aged 5-18 years, diagnosed according to Global Initiative for Asthma (GINA) guidelines, were. Control status of asthma was assessed using the asthma control test (ACT) or childhood ACT and categorized as controlled group-1 (ACT > 19) and uncontrolled group-2 (ACT ≤ 19). The difference between mean values in both groups was analysed, finding a significant difference between children with and without a family history (p = 0.004) and those with and without a need for admission (p = 0.045). Also, a significant association was established between NLR and the type of severity of asthma (p = 0.049), but none between NLR and age, gender, BMI, coexisting allergic rhinitis, or asthma exacerbation. Thus we found no significant association between NLR and symptom control status. However, NLR has the potential to be a putative marker of inflammation, although its relative status to CRP needs further studies.
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Asma , Neutrófilos , Humanos , Niño , Adolescente , Asma/diagnóstico , Linfocitos , Hospitalización , InflamaciónRESUMEN
Introduction Diabetes Mellitus (DM) is a complex metabolic disorder characterized by chronic hyperglycemia. Knowing its prevalence, associated clinical features, and complications is essential for diagnosing children having diabetes-like clinical features. Since there is a limited study from India and no similar study from this geographical part, the present study was carried out. Material and method It is a cross-sectional study, which includes children aged 1-18 years presented to the pediatric outpatient department (OPD), inpatient department (IPD), and emergency with clinical features of Type 1 Diabetes Mellitus (T1DM). The enrolled cases were assessed for confirmation of T1DM, and clinical features and associated complications were recorded in the case record form. Result A total of 218 children with clinical features of T1DM were enrolled, out of which 32 (14.7%) had T1DM. Among the 32 T1DM patients, 31 (96.9%) of the participants presented with polyuria, 29 (90.6%) had polydipsia, and 13 (40.6%) had polyphagia. Out of 32 children, 3 (9.38%) had diabetic neuropathy, and 1 (3.1%) had diabetic retinopathy. Conclusion We found that many children with diabetes have clinical features of T1DM and uncontrolled blood sugar. This emphasizes the need for early detection and treatment to prevent long-term complications.
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BACKGROUND: Urinary tract infection (UTI) in children is one of the commonest bacterial infections seen in the pediatric population. Clinical presentation ranges from fever with or without focus and isolation of microbiological agents streamline the treatment. Moreover, local/regional microbial profiles are helpful in antibiotic selection, we conducted a study to assess the prevalence of urine culture positivity in a suspected case of UTI. In addition, antibiotic susceptibility patterns and ultrasonography (USG) finding in culture-positive patients were also studied. METHODS AND MATERIALS: It is a prospective observational study comprising symptomatic children aged one month to 18 years presenting to the outpatient department (OPD), inpatient department (IPD), and the emergency department of Pediatrics with UTI during the period of September 2019 to September 2020. The recorded variables were demographic, clinical presentation, anthropometry, physical examination, blood biochemistry, and outcome. Urine samples were collected and processed as per standard protocols. USG was done for all culture-positive children. Data were presented as frequency, mean (SD) and parametric and non-parametric data were analyzed by Wilcoxon-Mann-Whitney U Test, Chi-Squared Test, or Fisher's Exact Test. Results: Of the total 354 children, 202 (57.1%) were male and the prevalence of UTI was 64 (18.1%). E. coli (70.3%) was the commonest isolated organism followed by Klebsiella spp (15.6%) and Pseudomonas spp (7%) respectively. The mean (SD) age (months) of presentation of symptoms was significantly lower in culture-positive children as compared to [ 83.49 (58.96) vs 110.10 (58.60); p=0.001] culture-negative children. Fever (96.6%) followed by dysuria (20.1%) were the most common symptoms presented for UTI however dysuria (p=0.003), pus cells (p<0.0001), and RBCs (p=0.002) were significantly present in culture positive children. This study shows increased resistance to third generation of cephalosporins. This study revealed significant differences among various groups (organism growth in positive culture) and the Antibiotic susceptibility test (AST) with a p-value of <0.001. Conclusion: The prevalence of culture-positive UTI was similar to the reported literature and the presence of fever, dysuria, pus cells, and RBC in urine were commonly observed in the lower age group. Amikacin can be used in suspected UTIs with cephalosporin as empirical antibiotics in the Himalayan Foothills region.
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INTRODUCTION: Older children and adults with spinal muscular atrophy (SMA) have been shown to have more anxiety, depression, and other behavioral problems in a few studies. But no similar studies have been performed in infants and young children with SMA. METHOD: Behavioral co-morbidities of young children with SMA were compared with healthy and children with chronic non-neurological illness control group. Infant Behavior Questionnaire-Revised (IBQ-R) and parent-report version of chid behavior checklist (CBCL) were used for infants and preschool-age children respectively. RESULTS: A total of 35 SMA children (age at symptom onset-5.9 ± 2.8 months, at enrolment-21.4 ± 7.1 months, 65% boys, 11, 19 and 5 were SMA 1, 2 and 3 respectively) and 24 siblings (38.6 ± 11.2 months, 71% boys) were enrolled. We also enrolled 15 children with nephrotic syndrome as age and gender matched control to SMA children in age-group 2-5 years (27.7 ± 9.1 months, 67% boys). In infants with SMA, the scale scores of IBQ-R were significantly higher for distress to limitation, fear, sadness, and falling reactivity/rate of recovery from distress (p = 0.005; 0.03; 0.001, and 0.04) and lower for soothability as compared to healthy control group (p = 0.04). Similarly, for the three dimensions of temperament computed from these 13 domains, the mean scale score for surgency/extraversion was lower and negative affectivity was higher (p = 0.04 and 0.03), in infants with SMA as compared to healthy controls. For preschool age group, the internalizing problem scores (p = 0.009 and 0.03) and stress problem scores (p = 0.002 and 0.04) were higher in the SMA group, as compared to both the healthy control group and diseased control group. While assessing the syndrome scale scores, the score was higher for emotionally reactive (p = 0.0002 and 0.01) and anxious domains (p < 0.0001 and p = 0.0002) compared to both healthy and diseased control groups. CONCLUSION: Infants and young children with SMA suffer from increased internalizing problems like anxiety, depression and probably their healthy siblings are also at increased levels of stress, depicted by increased somatic complaints.
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Atrofia Muscular Espinal , Problema de Conducta , Atrofias Musculares Espinales de la Infancia , Masculino , Adulto , Humanos , Niño , Lactante , Preescolar , Adolescente , Femenino , Hermanos , Estudios TransversalesRESUMEN
Dysregulation of zinc (Zn) homeostasis causes a shift in the Th1/Th2 balance towards a Th2 response, which may lead to a heightened inflammatory response. Asthma is associated with an exaggerated Th2 response to antigens. This study attempts to find the association of serum Zn with the status of symptom control of asthma in children and adolescents with bronchial asthma. A total of 67 asthmatic children, diagnosed as per Global Initiative for Asthma (GINA) 2019 guidelines, were included in the study. Symptom control of asthma was assessed by Asthma Control Test (ACT) and Childhood Asthma Control Test (C-ACT) scores. Spirometry was performed on those participants who were able to perform satisfactorily. Serum Zn was analyzed using the photometric method. Participants were divided into two groups: controlled and uncontrolled groups according to ACT/C-ACT score. Mean age of the participants was 10.78 ± 3.67 years. The mean S. Zn (µg/dL) was 136.97 ± 48.37. This study found a higher mean S. Zn value in the controlled asthma group as compared to the uncontrolled group (158.06 vs 129.23, p = 0.006). At a cutoff of S. Zn (µg/dL) ≥ 126.84, it predicted controlled asthma with a sensitivity of 89% and a specificity of 55%. No significant difference was found between the mean serum Zn levels in terms of age, sex, severity, and CRP levels. CONCLUSION: A significant difference was observed between the mean value of Zn and symptom control of asthma (p = 0.006) with a weak positive correlation between the two which was statistically significant (rho = 0.26, p = 0.031). However, low levels of zinc were not significantly associated with symptom control of asthma. Thus, we conclude that maintaining an adequate zinc level could help in achieving better control of asthma in pediatric populations. WHAT IS KNOWN: ⢠Zinc has a role in immunological response in the pathophysiology of immunological disorders such as bronchial asthma. WHAT IS NEW: ⢠This study adds a significant association of serum zinc levels with symptom control of asthma in pediatric populations. ⢠This study also gives a cut-off value of serum zinc level which predicts adequate symptom control of asthma.
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Asma , Humanos , Niño , Adolescente , Asma/diagnóstico , Espirometría , Zinc , Estudios ProspectivosRESUMEN
Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in NR3C2 (MLR) gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is due to mutations in other genes. Type I PHA is further divided into systemic and renal forms based on the gene and organ involved. Systemic PHAI is a rare, multisystem disease presenting as severe salt wasting in neonates. In this article, we report a case of systemic pseudohypoaldosteronism type 1 in a 2 days old neonate with a novel mutation involving SCNN1B gene. Our patient appears to be the first reported case of systemic PHAI due to SCNN1B mutation from India.
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INTRODUCTION: Diastrophic dysplasia (DTD) results from SCN26A2 gene mutation, with autosomal recessive inheritance and widely variable phenotype. The gene has been mapped to chromosome 5q32-q33.1. CASE REPORT: We present a case of a 4-year-old female with short stature, bilateral feet and knee deformity, and dysplastic facies. SCN26A2 mutations were seen in patient as well as parents. She underwent multiple orthopedic procedures involving metatarsals, gastrosoleus, and distal femur. Based on typical clinical features, DTD was suspected. Genetic studies of patient and parents provided the exact diagnosis in this case. CONCLUSION: Genetic diagnosis and family counseling are important caveat of management. Key features like ear abnormalities help to suspect diagnosis which requires a high index of suspicion. Associated bony and soft-tissue abnormalities of lower limb may require surgical intervention for improvement of gait, functions, and cosmesis.
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Oro-facial-digital syndrome (OFD) is a disorder with varied inheritance patterns. They deal mainly with abnormalities of the face, digits, i.e., fingers and toes, and oral cavity. Hypoplasia of nasal alar cartilage, broad nasal bridge, frontal bossing, and micrognathia are the common facial abnormalities observed in its multiple potential forms. Among the oral features, lobulated tongue, multiple frenulae, and cleft lip/palate are the common findings. The subject presented in our case manifested cleft of the hard palate at the time of presentation, along with other diverse features, which could not match any of the defined OFD types in literature. Furthermore, follow-up of the infant observed closure of the palate spontaneously, without any intervention. Hence, the purpose is to add to the knowledge the typical features of this unspecified type of OFD, along with this unique unprompted cleft palate closure, which aroused the need of close watch in such cases.
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Encefalopatías , Dengue , Encefalitis , Dengue/complicaciones , Dengue/diagnóstico , Humanos , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND AND AIMS: Subclinical Vitamin B12 deficiency is a very common entity in the Indian subcontinent with devastating clinical and socio-economic consequences. The objective of this study was to estimate the proportion of vitamin B12 deficient children and to evaluate their clinical profile. SETTING AND DESIGN: This prospective analytical study was conducted in a tertiary level care institute in Northern India. MATERIALS AND METHODS: Children with clinical pallor, were included in this study. Detailed history, height, weight percentiles and characteristic features of vitamin B12 deficiency were recorded and complete blood counts, mean corpuscular volume and vitamin B12 levels were done. STATISTICS: For Qualitative data was analyzed using Pearson Chi square tests and quantitative data was analyzed using two sided independent samples t tests. RESULTS: A total of 111 children were included. 64.8% (n = 72) had vitamin B12 deficiency. Lethargy (63.9%) and weight loss (62.1%), Knuckle pigmentation were common features. One-fourth of the children were on vegetarian diet. Neurological manifestations were significantly associated with fragile hair (p 0.056) and knuckle pigmentation (p 0.027). Younger children had more weight loss (p 0.001), knuckle pigmentation (p 0.019) and hypotonia (p 0.045). One fifth of children presented with neurological manifestations. CONCLUSIONS: Two-thirds of the anemic children had vitamin B12 deficiency. There was a bimodal age distribution with regard to B12 deficiency. Neurological manifestations were predominant in younger children [<6] and hematological abnormalities were more frequent in older children [≥6 years]. Estimation of vitamin B12 levels forms an essential component while evaluating children with anemia, despite mixed dietary habits and normal MCV.
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Tuberculosis (TB) is a multi-systemic disease instigated by Mycobacterium tuberculosis that can involve any organ. In any child presenting with clinical features involving multiple organ systems, TB forms an important differential. This holds particularly for endemic countries like India. Genitourinary TB (GUTB) comprises up to 27% of all extrapulmonary TB cases. We present an unusual presentation of disseminated TB involving kidneys and presenting as gross hematuria. 12-year-old girl, presented with recurrent episodes of gross hematuria of one-month duration. She received multiple packed cell transfusions for the same. She had chronic malnutrition. USG KUB with renal doppler was normal. Given persistent hematuria, CT urography was done which showed features suggestive of papillary necrosis with cystitis. Tubercular workup showed multiple opacities predominantly involving perihilar regions bilaterally on chest x-ray along with positive Mantoux test. Sputum for AFB was positive for tubercular bacilli. Urine samples were also sent for CBNAAT which showed TB bacilli sensitive to rifampicin. With a diagnosis of disseminated TB, antitubercular therapy (ATT) was started followed by cystoscopic resection of inflamed bladder wall tissue. Bladder mucosal biopsy confirmed caseating granulomas suggestive of tuberculous cystitis. The patient is doing well and symptom-free after completion of ATT.
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Transfusión Sanguínea/métodos , Cistitis , Hematuria , Mycobacterium tuberculosis/aislamiento & purificación , Rifampin/administración & dosificación , Tuberculosis Urogenital , Sistema Urogenital/diagnóstico por imagen , Antibióticos Antituberculosos/administración & dosificación , Niño , Cistitis/diagnóstico por imagen , Cistitis/patología , Cistitis/cirugía , Femenino , Hematuria/diagnóstico , Hematuria/etiología , Humanos , Riñón/diagnóstico por imagen , Riñón/patología , Necrosis , Recurrencia , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Tuberculosis Urogenital/diagnóstico , Tuberculosis Urogenital/fisiopatología , Sistema Urogenital/microbiologíaRESUMEN
Coexisting tuberculosis (TB) and hydatid disease in an immunocompetent individual is an extremely rare occurrence. Given the similarities in the clinical manifestations and morbidities of both, specific diagnosis in individuals coinfected with these is difficult. We, hereby present a case of a 17-year-old adolescent man diagnosed to be a coinfection of pulmonary TB with pulmonary and cardiac hydatid disease, with the review of cases having a similar presentation. The coexistence of these infections should be considered in endemic areas. Management can only be done by a multidisciplinary approach including surgical, microbiological, histopathological and radiological facilities. Complete surgical excision of the cyst is the treatment of choice and medical therapy for both aetiologies should be appropriate to achieve cure.