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Secondary amyloidosis may complicate inherited dermatoses, but recessive dystrophic epidermolysis bullosa (RDEB) complicated by renal amyloidosis is rare. We report a case of a 12-year-old male child with RDEB presenting with progressive generalized anasarca for 20 days. Kidney biopsy showed diffuse expansion of mesangial matrix by pale acellular Periodic Acid-Schiff (PAS)-negative amorphous material, which was congophilic on Congo red stain and gave apple green birefringence on polarization and extending along the glomerular basement membrane, suggestive of amyloidosis. Genetic analysis showed a compound heterozygous pathogenic variant in the COL7A1 gene with autosomal recessive inheritance. [ABSTRACT FROM AUTHOR]

Background: One-third of children with type 1 diabetes mellitus manifest with diabetic ketoacidosis (DKA). Most children presenting with DKA are in a volume-depleted state, leading to acute kidney injury (AKI). Besides volume depletion, hyperglycemia can induce tubular injury and kidney inflammation. Therefore, a thorough knowledge of incidence of AKI, risk factors, and outcomes in pediatric DKA is desirable to improve its management and outcomes. Objective: To synthesize currently available evidence on the incidence, risk factors, and outcomes of AKI in children with DKA. Data sources: We searched three electronic databases (EMBASE, PubMed, and Web of Science) from inception to September 2022 for original studies reporting AKI in children with DKA. Search strategies for the individual databases were drafted using free text words and MeSH incorporating "acute kidney injury" and "diabetic ketoacidosis." Study eligibility criteria: Cohort and cross-sectional studies reporting AKI in children with type 1 DM and DKA were included. Participants and interventions: Children (aged less than 18 years) with type 1 DM and DKA. Study appraisal and synthesis methods: The critical appraisal tool of NHLBI for cohort studies was used to assess the quality of the studies. We estimated the pooled incidence of AKI with 95% CI in children with DKA using a random effects model. The primary outcome was the pooled incidence of AKI during the DKA episodes. Results: Twenty-one studies assessing 4087 children (4500 DKA episodes) reported AKI during DKA episodes. The pooled incidence of any stage of AKI during the DKA episode was 47% (95% CI: 40 to 55). Severe AKI was observed in 28% (21 to 35) of DKA episodes; however, only 4% (1 to 11%) of children with AKI received dialysis. Low serum bicarbonate, low corrected sodium, higher blood sugar, and high blood urea nitrogen at presentation have been reported to be associated with the development of AKI. Conclusion: AKI developed in almost half of the DKA episodes, and every fourth DKA episode was associated with severe AKI. The recovery rate from DKA-associated AKI appears to be high; however, further studies are needed to assess the exact impact of AKI on long-term outcomes. Registration: PROSPERO (CRD42022303200). [ABSTRACT FROM AUTHOR]

Background: Reports on long-term complications of childhood-onset nephrotic syndrome (NS), such as obesity, osteoporosis, growth failure, and hypertension, are mostly from developed countries not representing South Asian ethnicities. Furthermore, data on cardiovascular health among patients with childhood-onset NS are limited. Methods: This was an observational study involving patients attending a tertiary care center. Patients aged 15 years and older were examined for long-term complications and remission of NS at their visit in December 2021. Childhood-onset NS meant onset of NS before 10 years of age. Long-term complications included obesity, growth failure, low bone mineral density (BMD) Z score, hypertension, and increased carotid intima-media thickness (cIMT). Long-term remission was defined as no relapse for the last ≥ 3 consecutive years without immunosuppressive medication to maintain remission. Results: Of 101 patients studied (~ 80% with frequent relapsing (FR)/steroid-dependent (SD) NS), the mean age was 17.6 (± 2.4) years at the time of study. Long-term complications were noted in 89.1% of patients which included one or more of the following: obesity (22.7%), growth failure (31.7%), low BMD Z score (53.5%), hypertension (31.7%), and high cIMT (50.5%). Thirty-nine patients (38.6%) were in long-term remission at the time of the study. Growth failure and low BMD Z scores were less frequent in patients with long-term remission compared to those without long-term remission. Conclusions: In patients with childhood-onset NS (predominantly FR/SDNS) who were studied at ≥ 15 years of age, ~ 90% had long-term complications which included high cIMT in 50%. Only ~ 40% were in long-term remission. [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]

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]

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]