Contribution of Serial Focused High-Resolution Renal Ultrasound in the Management of a Neonate in Acute Renal Failure.

Most newborns begin urinating within 24hours of life, and almost always by 48hours. Rarely, some of them are anuric beyond 24hours, thereby causing concern to parents and treating doctors. We report the case of a newborn who presented with anuria till 48hours after birth. High-resolution ultrasound examination, focusing on the renal medulla, demonstrated increased echogenicity at the tip of the pyramids. This was attributed to slow clearance of urinary sediment deposited there, which was causing obstruction to the urinary outflow. On monitoring serially over the next few days, the echogenic sludge was observed being slowly eliminated leading thereby to improvement in the urinary output. High-resolution ultrasound focusing on the renal pyramids played an important role in the observation and management of this transient event unfolding, in the urinary tract.

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott-Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.

Cross-sectional Study Shows an Association between Paediatric Lichen Planus and Dyslipidemia.

Background: Few studies have shown an association between adult lichen planus and dyslipidemia, but none has shown an association with the pediatric population. We planned to study the association between pediatric lichen planus and metabolic syndrome (MS). Methodology: This is a single-centre, cross-sectional, case-control study from July 2018 to December 2019 at a tertiary care institute. Twenty children in the age group of 6-16 years, diagnosed as cases of childhood/adolescent lichen planus, and 40 age- and sex-matched controls were included in this study and evaluated for metabolic syndrome.Patients' anthropometry including weight, height, waist circumference, and body mass index (BMI) was recorded. Blood samples were sent for the measurement of fasting plasma glucose, high-density lipoprotein (HDL), low-density lipoprotein (LDL) cholesterol, and triglyceride levels. Results: The mean HDL was found to be significantly lower in children with lichen planus compared to children without lichen planus (p = 0.012), although there was no statistically significant difference in the frequency of patients having deranged HDL levels between the groups (p = 0.326). Children with lichen planus had a higher prevalence of central obesity, but the difference was not statistically significant (p = 0.101). There was no significant difference between mean BMI, hypertension, triglyceride, LDL, and fasting blood sugar values between the groups. Using the logistic regression analysis model, it was found that the strongest independent variable that impacts the occurrence of lichen planus was an HDL value less than 40 mg/dl (p = 0.017; OR 1.02 to 1.29). Conclusions and Relevance: This study shows an association between paediatric lichen planus and dyslipidemia.

SARS-CoV-2 infection triggering recurrence of Kawasaki disease in a 10-year-old child.

SARS-CoV-2 infection has recently been related to a spectrum of hyper-inflammatory states in children. There is a striking similarity between these hyper-inflammatory states and Kawasaki disease (KD). We present an interesting case of KD recurrence in a 10-year-old child, who had previously developed KD at 4 years of age. His symptoms included fever, maculopapular rash and altered sensorium. Investigations showed noticeably elevated inflammatory markers, and an echocardiography revealed dilated coronary arteries. SARS-CoV-2 IgG antibodies were positive. The child responded dramatically to intravenous immunoglobulin and intravenous methylprednisolone. It is possible that SARS-CoV-2 infection triggered the recurrence of KD in this child who might have been genetically predisposed to KD.

Leprosy in the post-elimination era: a clinico-epidemiological study from a northern Indian tertiary care hospital.

INTRODUCTION: Leprosy is a chronic disease caused by Mycobacterium leprae. Despite being eliminated from India in 2005, there are still a considerable number of leprosy cases. METHODS: A prospective hospital-based study involving all leprosy patients attending the leprosy clinic at the Department of Dermatology from January 2015 to December 2016. RESULTS: A total of 220 patients visited the leprosy clinic during the study period. Most of the patients (48.7%) were 20 to 40 years old. Multibacillary disease was more common in females (84.7%) than males (67.6%), and in rural patients (80.9%) than urban patients (64.8%). Borderline lepromatous leprosy was the most common (38.2%) type of leprosy seen, followed by lepromatous leprosy (28.2%) and borderline tuberculoid leprosy (21.4%). CONCLUSIONS: Despite elimination, leprosy continues to be a health problem in this part of the world. We have shown that females and the rural population are more susceptible to multibacillary disease.

Clinico-epidemiological Study of Morphea from a Tertiary Care Hospital.

INTRODUCTION: Morphea is an uncommon disease that presents with skin induration and sclerosis. The disease is common in Caucasians and there are few studies describing the clinicoepidemiological profile of these patients from the Indian subcontinent. METHODS: This prospective study was conducted during a three year period from June 2014 to May 2017. All patients of morphea presenting to the dermatology outpatient department were evaluated for parameters like age, sex, duration, age of onset, clinical subtype and possible disease associations and triggering factors. The data was analysed, tabulated and mean, standard deviation and percentages calculated. RESULTS: 47 patients were incorporated into the study. These comprised of 10 (21.28%) males and 37 (78.72%) females. The average age of the patients was 23.92 ± 12.07 years with a mean age of onset being 22.13 ± 12.51 years. 22 (46.80%) patients presented within one year of onset of disease. Plaque morphea was the commonest type seen in 31 (65.96%) patients followed by linear morphea in 9 (19.15%) patients. We found preceding trauma in 3 patients and morphea developed following herpes zoster and intramuscular injection in one patient each. CONCLUSION: Morphea is an uncommon disease that is seen predominantly in females and young individuals. Circumscribed plaque morphea is the commonest variant. Certain predisposing factors like trauma can precede it.

Erythromelanosis follicularis faciei et colli: A clinicoepidemiologic study.

We describe 25 cases of erythromelanosis follicularis faciei et colli from India. The male:female ratio was 5.25:1 and the average age of onset was 12.3 years. The cheeks, preauricular area, and submandibular region were the sites most commonly affected. Keratosis pilaris was seen in 22 (88%) of the patients.

Fever, marked tachycardia and vesiculobullous rash in an infant with Chikungunya fever.

We describe a 3-month-old male infant who presented with acute onset fever, irritability and marked tachycardia. ECG was suggestive of atrial tachycardia. He developed erythematous blanchable skin rash on day 2 of illness, which progressed to vesiculobullous lesions over a few days' time. The child was managed with intravenous adenosine, carefully monitored fluid boluses, oxygen supplementation and close monitoring. Tachycardia improved within 24 hours. Blood for Chikungunya PCR was positive. The child was discharged after 5 days of hospitalisation with bullous lesions evolving into hyperpigmented macules followed by crusts and hypopigmentation by day 10.

Juvenile systemic sclerosis: experience from a tertiary care center from India.

Juvenile systemic sclerosis (JSSc) is a rare disorder with paucity of information on its treatment and longterm  outcome. Herein, we are sharing our experience with this rare entity. Case records of children, diagnosed to have systemic sclerosis attending Pediatric Rheumatology Clinic at All India Institute of Medical Sciences, New Delhi from January 1998 to June 2016 were reviewed. The demographic, clinical, laboratory, treatment and outcome details were recorded. Disease outcome was classified arbitrarily as controlled, partly controlled or non-responsive/progressive based on: (A) ability to perform activities of daily life (ADL) and (B) presence or absence of musculoskeletal symptoms, skin changes (ulceration/progressive digital pitting/gangrene), and visceral organ involvement (dyspahgia, cardiopulmonary symptoms). Controlled: ability to perform ADL and absence of B features for at least 6 months. Partly controlled: inability to perform ADL or any of the B features. Non-responsive/progressive disease: presence of both A and any of B features. Thirty-two children (21, girls) diagnosed as systemic sclerosis for whom follow-up of more than 6 months was available were included for this retrospective analysis. Mean (SD) age at presentation was 112.79 (30.05) months, while the median (IQR) delay in diagnosis was 28.5 (9-47.25) months. Of the 32 children 17 (53.12%) had diffuse systemic sclerosis (dSSc), 5 (15.62%) had limited systemic sclerosis (lSSc) and 10 (31.25%) had sclerosis with overlap syndrome. The common clinical features apart from sclerosis/induration proximal to metacarpophalangeal joint were Raynauds phenomenon (n = 22, 68.7%), skin rash (n = 20, 62%), arthritis or arthralgia (n = 16, 50%), and muscular weakness (n = 10, 31.2%). Among those for whom data regarding investigations were available; ANA was positive in 50% (12/24), whereas Anti Scl70 was positive in one out three cases. Treatment regimen included naproxen, methotrexate, calcium channel blockers with or without steroids. HCQ was added in children with skin rash or in children with partial control. Median (IQR) follow-up period was 19.75 (12-31.75) months. With the above treatment protocol, 19 (59.3%) children achieved disease control on treatment, 8 (26.6%) had partial control while 5 (16.6%) showed no response or progressive disease. Esophageal dysmotility and intertitial lung disease (ILD) were documented in three children each. Complication (cataract and herpes zoster) related to immunosuppressive therapy were observed in two children. There was no mortality during the study period. Juvenile Sclerosis though rare is associated with significant morbidities and lacks a curative treatment but a reasonable quality of life to perform daily activities can be achieved using methotrexate and steroid-based immuosuppressive therapy.

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis. OBJECTIVE: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID. METHODS: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study. RESULTS: A total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8 RAG2 mutations, 7 JAK3 mutations, 4 DCLRE1C mutations, 4 IL7R mutations, 2 RFXANK mutations, and 2 ADA mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (n = 57). A total of 29 patients had a positive FH. Candidiasis (n = 27) and bacillus Calmette-Guérin (BCG) vaccine infection (n = 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 × 109/L with over 88% patients below 3 × 109/L. Positive FH was associated with earlier AP by 1 month (p = 0.002) and diagnosis by 2 months (p = 0.008), but not shorter time to diagnosis (p = 0.494). Candidiasis was associated with later AD by 2 months (p = 0.008) and longer time to diagnosis by 0.55 months (p = 0.003). BCG infections were not associated with age or time to diagnosis. CONCLUSION: FH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 × 109/L.

Anaemia and respiratory failure in a child: can it be idiopathic pulmonary haemosiderosis?

We present an 8-year-old male child admitted with cough and high-grade fever for 7 days and respiratory difficulty for 2 days. There was a history of blood transfusion at 2 years of age during a respiratory illness. The child was anaemic, tachycardic, tachypnoeic and hypoxic at presentation. Chest examination revealed equal air entry with fine crackles bilaterally. Blood reports were suggestive of anaemia (haemoglobin 6.5 g/dL), leucocytosis and high C reactive protein levels. Chest radiograph revealed bilateral air space opacities involving diffuse lung fields, right more than left. Relevant microbiological workup was negative. Based on the clinical scenario and investigations, a provisional diagnosis of pulmonary haemosiderosis was kept. The patient was started on intravenous pulse methylprednisolone. Fibre-optic bronchoscopy was done following recovery from the acute event. Bronchoalveolar lavage demonstrated a significant number of haemosiderin-laden macrophages confirming pulmonary haemosiderosis.

Leiomyosarcoma of the prostate-an unexpected histopathological outcome.

Prostate leiomyosarcoma is an extremely rare and highly aggressive neoplasm that accounts for >0.1% of all primary prostate malignancies. We report a case of a patient, presenting with recurrent episodes of dysuria, who had been diagnosed and operated for benign prostatic hyperplasia 1 month earlier, and now presented with similar symptoms postoperatively. Trans-rectal biopsy of the prostate was carried out and histopathology revealed leiomyosarcoma of the prostate.

Fractional Exhaled Nitric Oxide for Identification of Uncontrolled Asthma in Children.

OBJECTIVE: To determine the utility of Fractional Exhaled Nitric Oxide (FENO) in the identification of uncontrolled asthma in children on therapy, and to identify its cut-off value for determining asthma control. METHODS: 207 children (age 5-15 y) with physician-diagnosed asthma on therapy with at least 12 months follow up were enrolled. Spirometry and FENO measurements were performed. Asthma control was assessed as per GINA guidelines. Sensitivity and specificity of various cut-off values of FENO (15 ppb, 20 ppb, 25 ppb, 30 ppb) for identification of status of control of asthma were calculated. RESULTS: 156 (75%) children had uncontrolled or partly controlled asthma and 51 children were assessed to have controlled asthma. Median (IQR) FENO in children with controlled and uncontrolled asthma was 16 (11-23) ppb and 13 (11-25) ppb, respectively (P=0.26). No FENO cut-off had a reasonable combination of sensitivity and specificity to discriminate between controlled and uncontrolled asthma. CONCLUSIONS: FENO, in itself, does not have good discriminatory value in assessment of controlled and uncontrolled asthma in children on asthma therapy.

Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.

Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a diffuse subcortical leucoencephalopathy with cystic white matter degeneration. Patients with MLC present with macrocephaly at the first year of life, and neurological abnormalities such as motor deterioration, ataxia, spasticity and cognitive defects progress later. MLC is caused by mutations in the gene MLC1, which encodes a novel protein, MLC1. There is no specific treatment for MLC. Management is based on physiotherapy procedures, psychomotor stimulation and treatment of seizures. We report a case of a 1-year-old boy with a normal birth and developmental history, presenting with progressive increase of head size; on further evaluation with CT and MRI of the brain, the child was diagnosed as MLC.