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Background: Peripheral neuropathy in chronic kidney disease (CKD) is the most common neurological complication. We aimed to look at the prevalence and patterns of neuropathy in children with CKD. Methods: This cross-sectional study was conducted over 1 year in children with CKD, stage III and above. Nerve conduction studies (NCS) were performed as per standard protocols using surface electrodes on the muscles and by supramaximal stimulation of the corresponding nerves. Presence of electrophysiological abnormalities in the absence of clinical symptoms or signs was considered as subclinical neuropathy. Results: Nearly 45 children were evaluated. The majority were males (n = 39, 86.7%). The mean age was 7.9 ± 3 years (range 2--14). The mean estimated glomerular filtration rate (GFR) at enrolment was 23.3 ± 14.6 mL/min/1.73 m2 (range 5--67). The majority of children were in stage III (n = 19, 42%), followed by stages V (n = 15, 33%) and IV (n = 11, 25%). There was no evidence of clinical neuropathy; 13 children (29%) showed subclinical neuropathy. All the nerves had an axonal pattern of involvement. Motor polyneuropathy was most common type of peripheral neuropathy. The commonest nerves involved were tibial and common peroneal nerves. There were no biochemical or clinical predictors of neuropathy in our cohort. Conclusion: The prevalence of subclinical neuropathy is high in children with CKD, stage III and above. Axonal motor polyneuropathy is the predominant pattern. Electrophysiological assessment of nerve function should be routinely done in children with advanced stages of CKD to prevent chronic complications. [ABSTRACT FROM AUTHOR]

Introduction: Chronic peritoneal dialysis (CPD) is an important modality of renal replacement therapy (RRT) in children of all ages with end-stage renal disease (ESRD). We retrospectively assessed the clinical profile of children with chronic kidney disease (CKD) initiated on CPD at a tertiary care centre in Northern India. Materials and Methods: Retrospective data of 13 children with CKD and initiated on CPD between 2016 and 2019 were retrieved and analysed. The demographic and clinical profile, aetiology of CKD, method of catheter insertion, mode of dialysis, complications, and catheter survival rate were analysed. Results: The median age at the onset of the symptoms was 81 months interquartile range (IQR 11–90) and the median age at the diagnosis was 81 months (IQR 36–103). The median age at the initiation of CPD was 92.97 months (IQR 74.43–108.79). The median serum creatinine at the initiation of CPD was 6.3 mg/dL (IQR 4.25–8.4). During a total study period of 84 CPD months, we observed 16 catheter-related complications and a complication rate of 1 per 5.25 CPD months. The overall peritonitis rate was 1 episode per 13.66 patient-months (0.87 episodes per patient-year). The catheter displacement/migration was seen in 23% of the cases. The median duration of follow-up was 175 days (IQR 85–249) with the longest follow-up duration of 502 days. Conclusion: CPD is the modality of choice for smaller children with ESRD as venous access is difficult to achieve in smaller children. Complications especially related to infections are a major concern in addition to poor growth associated with ESRD. [ABSTRACT FROM AUTHOR]

Background: Exact information about the efficacy of various medications proposed by regulatory bodies in children with COVID-19 is limited due to the lack of controlled trials in the existing literature. Methods: Different electronic databases (MEDLINE, EMBASE, Web of Science, COCHRANE CENTRAL, LitCovid, medRxiv, and bioRxiv) were searched for articles describing the management of COVID-19 cases in children with 18 shortlisted medications. Prospective/retrospective studies/case series (with at least 20 cases) reporting COVID-19 in patients aged ≤14 years were searched to collect information regarding clinical details and severity of participants, medications used, and outcome. The pooled estimate of these parameters across studies was performed using a random-effect or fixed-effect meta-analysis depending on the degree of heterogeneity. Results: From a total of 5794 records, 97 studies/case series (8243 patients) fulfilled the eligibility criteria and were included in this systematic review. A total of 21% children received at least one medication specifically used for COVID-19. While antivirals were used in 15.3% of children, remedesivir was the most commonly used antiviral drug in 6.2% of included children without many reports of serious adverse effects. There was a more prevalent use of anti-inflammatory medications including corticosteroids (27.8%, P = 0.01). Total 91% of severe cases described in literature in children received some anti-inflammatory medications. Among them, corticosteroids (17%) and Intravenous immune globulin (IVIG) (17.5%) were the most predominant followed by interferon (4.2%), tocilizumab (1.5%), and anakinra (0.8%). The most predominant therapy among multisystem inflammatory syndrome in children (MIS-C) cases were IVIG (81%), followed by aspirin (67%), corticosteroids (64%), inotropes (62%), and anticoagulation (56%, mostly low molecular weight heparin, LMWH). Overall mortality was only 1.3%, but when we analyzed separately including only cases with moderate and severe disease, the mortality rate was 4.6%. Conclusion: Among pharmacological modalities, anti-inflammatory agents like corticosteroids and antivirals like remdesivir have the most promising evidence for severe cases of pediatric COVID-19. Intravenous immunoglobulin and other anti-inflammatory/immunomodulatory agents like anakinra, aspirin, and anticoagulants have important therapeutic role in cases with MIS-C. Most of the mild cases recover with conservative treatment only. [ABSTRACT FROM AUTHOR]

Spastic paraplegia-56 is a rare autosomal recessive disorder, caused by homozygous or compound heterozygous mutations in the CYP2U1 gene, located on chromosome 4. Till date, only 28 patients with this disorder have been reported in the literature. We report a new case of CYP2U1-related spastic paraplegia-56. We also reviewed previously published patients with this condition from various databases. Next-generation sequencing in the index child detected a novel homozygous two base pair deletion in exon 2 of the CYP2U1 gene that results in a frameshift and premature truncation of the protein 19 amino-acid downstream to codon 361. Together with the presented case, 29 were available for analysis. The mean age at the diagnosis was 17.84 ± 6.86 years. Intellectual disability/cognitive dysfunction and delayed walking or gait disturbance were the most common presenting features. Around half of the patients had neuroregression in between 1 and 2 years. It is clinically imperative to suspect this disease in children with early-onset spastic paraparesis, especially in cases accompanied by baseline development delay or cognitive impairment and consanguinity. [ABSTRACT FROM AUTHOR]

Introduction: Caregivers of children with comorbidities suffer from various psychological problems. We envisage more such complications during this COVID-19 pandemic. Methodology: A cross-sectional study to assess psychological issues in caregivers of children with kidney diseases, admitted during lockdown period in India was done. Psychological tools including Peritraumatic Distress Inventory (PDI), Insomnia Severity Index, Depression Anxiety Stress Scale (DASS II), Positive and Negative Affect Schedule (PANAS) and a new "COVID Stress Survey Questionnaire" were used. Standard statistical analysis using SPSS Statistic 23 (IBM SPSS Statistics, New York, United States) was done. Results: Forty-seven caregivers (33 mothers; 14 fathers) were included. Of these, 33 (70.2%) experienced psychological distress. On PANAS, 45 (95.7%) scored below cut off on a positive affect and 42 (89.4%) scored above cut off on a negative effect. The DASS II score revealed that 38 (80.9%) reported mild stress, 23 (48.9%) severe anxiety, and 37 (78.7%) had moderate depression. Upper middle socioeconomic status caregivers reported more insomnia. Further, parents of children with acute kidney injury (AKI) or prolonged hospital stay scored higher on subjective distress and aversive feelings. Conclusion: We observed an alarming level of distress, insomnia, and anxiety among caregivers, more so in upper middle socioeconomic status, children with AKI and prolonged hospital stay. We suggest due counseling should be done. [ABSTRACT FROM AUTHOR]

Eosinophilic cystitis is a rare inflammatory disease in the pediatric population with varied presentations. Diagnosis requires a high index of suspicion and cystoscopy with biopsy of the bladder mass. There are no standard treatment guidelines, however, these patients usually respond with medical management, but recurrence is a possibility. We present a case of eosinophilic cystitis in a 6-year-old boy who presented with lower urinary tract symptoms, gross hematuria, and bladder mass. [ABSTRACT FROM AUTHOR]

Chylothorax is an uncommon presentation of venous thrombosis in nephrotic syndrome. We present a case of an 8-year-old boy with nephrotic syndrome who presented with prolonged respiratory difficulty and dry cough. A detailed evaluation revealed left chylothorax secondary to thrombosis of the left brachiocephalic vein. He improved with conservative management including anticoagulation therapy, intercostal chest tube drainage, and dietary modification. This case highlights the need to consider venous thrombosis as a cause of chylothorax in patients with nephrotic syndrome to institute appropriate treatment. [ABSTRACT FROM AUTHOR]

Aim Of Study: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of immune dysregulation resulting in abnormal T-cell activation and inflammatory cytokine production which produces a constellation of clinical features unique to HLH. Pediatric secondary HLH is usually triggered by infection, malignancy, or rheumatological disorders. The diagnosis of malignancy-associated HLH (MA-HLH) poses a difficult challenge as clinical features may be attributed to the underlying disease or chemotherapy. Our study aimed to see the occurrence of this rare entity at our centre.Materials and Methods: Data were collected from all pediatric oncology patient treated at our center with the diagnosis of MA-HLH from January 2012 to December 2014. Data were collected for age, sex, underlying disease, treatment protocol, stage of chemotherapy, any underlying infection, treatment given for HLH, and outcome.Results: There were five patients with a diagnosis of MA-HLH in the study period. Age ranged from 18 months to 9 years. Of the five MA-HLH, two patients had acute lymphoblastic leukemia, two acute myeloid leukemia, and one had Hodgkin lymphoma. The three patients who had documented microbiological infection also did not improve after appropriate treatment. Two patients died during treatment. One patient improved completely on steroid alone. One patient received HLH 2004 induction.Conclusion: The delay in the diagnosis of MA-HLH in pediatric patients may be due to decrease awareness about the condition the timely diagnosis of MA-HLH is crucial for a better outcome. Herein, we discuss our experience with this rare entity in pediatric oncology patients with review of literature. [ABSTRACT FROM AUTHOR]

Valproic acid increases glutamate decarboxylase-mediated y-aminobutyric acid (GABA) synthesis. The mood stabilizer valproic acid stimulates GABA neurogenesis from rat forebrain stem cells. [Extracted from the article]

Glutaric aciduria type 1 (GA-1) is an autosomal-recessive disorder caused by the deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase. A 13-month-old boy presented with microcephaly, developmental delay, and progressive spasticity and was being treated as spastic cerebral palsy, later on had loss of developmental milestones after acute episode of illness at 12 months of age. The magnetic resonance imaging of brain revealed widened Sylvian fissure, hyperintensities in bilateral globus pallidus, and bilateral frontoparietal atrophy along with white matter loss. The urine examination by gas chromatography–mass spectroscopy revealed a marked excretion of glutaric acid and 3-hydroxyglutaric acid. The diagnosis of GA-1 was confirmed on the basis of characteristic neuroimaging, biochemical, and mutation studies. There are rare reports in the literature about association of GA-1 with microcephaly. The child was started on trihexyphenidyl, l-carnitine, and high-dose riboflavin, and dietary therapy in the form of low-protein diet was advised. [ABSTRACT FROM AUTHOR]

Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we retrospectively studied six cases who presented to our hospital between the years 2013 and 2015. Almost all had developmental retardation, with recurrent respiratory tract infections, and feeding difficulties. Synophrys with long curly eyelashes with low anterior and posterior hairline was present in all the children. Cornelia de Lange syndrome is a multisystem developmental disorder requiring interdisciplinary management. Symptomatic treatment generally given as therapy is very difficult. Early diagnosis and prompt management of associated disorder are useful for effective outcome of the disease. [ABSTRACT FROM AUTHOR]

Late infantile metachromatic leukodystrophy is an autosomal recessive disorder caused by a deficiency in the enzyme activity of Aryl sulfatase-A. The classical presentation is characterized by gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture and early death. Here we report a toddler who presented with frequent falls and cognitive regression. Magnetic resonance imaging (MRI) showed a striking leopard skin pattern. Recognition of this pattern on MRI in proper clinical context can serve as a clue to the diagnosis. [ABSTRACT FROM AUTHOR]