Perinatal outcome in abnormal placental villus proliferation and mesenchymal dysplasia

Placental mesenchymal dysplasia (PMD) is a rare vascular anomaly which is characterized by mesenchymal stem villous hyperplasia and placentomegaly. Since the modality of treatment changes it is necessary to distinguish PMD from molar pregnancy, placenta mosaicism, chorioangioma, twin pregnancy with co-existent molar pregnancy. On reviewing cases of abnormal placental villus proliferation having features of placental mesenchymal hyperplasia placentomegaly and cystic appearance of placenta in database of our hospital from 2015-2019, we reported 4 cases of abnormal placental villous proliferation. And performed systematic review of existing literature. Provisional   diagnosis of PMD was made as USG and placental morphology showed 30-60% of the placenta with cystic vesicles, placentomegaly with a normal growing fetus. PMD an uncommon vascular anomaly which resembles molar pregnancy but prognosis is different. The fetus was normal in majority of the cases. This clinical entity should be kept in mind to avoid unnecessary termination of pregnancy

Inherited lipid disorders in children: Experience from a tertiary care centre

Background: Primary dyslipidaemia in children is a rare inherited disorder of lipoprotein metabolism with debilitating sequelae and poor outcomes. Lipid-lowering drugs have less often been used in children and long-term outcome studies are scarce. The purpose of this study was to understand the clinical and laboratory profile, response to treatment on follow up and outcome of primary dyslipidaemia in Indian children. Methods: Clinical records, including historical details, examination features and laboratory and radiological evaluation of children diagnosed with primary dyslipidaemia, presenting over the last 9 years were studied. Cascade screening was done for family members of the patients to detect dyslipidaemia in parents and siblings. All children were followed up 3 to 6 monthly for clinical and laboratory evaluation. Diet and drug therapy, initiated as appropriate, were modified as necessary. Results: Of nine children with primary dyslipidaemia, seen over the last 9 years, homozygous familial hypercholesterolaemia (HoFH) (n = 4/9), familial hypertriglyceridaemia (FHT) (n = 3/9), familial combined hyperlipidemia (FCH) (n = 1/9), mutation proven chylomicronaemia syndrome (n = 1/9) were the phenotypes seen. Multiple xanthomas (n = 4/9), recurrent pancreatitis (n = 2/9) and incidentally found biochemical abnormality (n = 3/9) were the chief presenting features. Medical nutrition therapy and lipid-lowering drugs, as appropriate, were instituted in all. Follow-up over 16 months (range 4 to 90 months) revealed no deaths and no new onset of symptoms. Atherosclerotic plaques in the carotid artery were seen in one child, who presented late, despite fair compliance to treatment. Interestingly, lipid levels decreased in all cases and were normalised in two. Conclusion: Primary dyslipidaemia when detected early and treated aggressively can improve short-term outcomes

Chylomicron Retention Disease in an Indian Infant: A Rare Case Report

Background: Chylomicron retention disease (CRD), or Anderson disease, is included in the familial hypocholesterolemia syndromes. Blockade of transport of chylomicron from the endoplasmic reticulum to the Golgi apparatus at the cellular level results in a total absence of chylomicron and apolipoprotein B-48 in the blood circulation following a fat meal. This is associated with a deficiency in liposoluble vitamins and essential fatty acids. Clinical Description: We report the clinical, laboratory, and histological details of a 7-month-old boy who presented with recurrent vomiting, steatorrhea, abdominal distension, and failure to thrive since early infancy. On examination, he had severe acute malnutrition, pallor, dry skin, and hepatomegaly. Management and Outcome: Investigations revealed anemia, normal liver function test, amylase, and hypocholesterolemia. Endoscopy showed fat-laden duodenal mucosa with inflammation and vacuolization of the enterocytes. This prompted genetic testing for CRD which was confirmed by a homozygous deletion encompassing exonic regions of 3–7 of SAR1B gene on chromosome 5 [c.(178 + 1_179-1)_ * 1_]. Our patient was treated with a low-fat diet, allowing only essential fatty acids, and supplementation with fat-soluble vitamins. There was a gradual improvement in weight gain. Conclusion: Common fat malabsorption disorders presenting in childhood have significant failure to thrive. CRD should be suspected in infants with early-onset steatorrhea, if a typical blood lipid profile and endoscopy/biopsy findings are seen. CRD is confirmed by the detection of a mutation in the SAR1B gene

Common Salt versus Silver Nitrate for the Treatment of Umbilical Granuloma in Infants: An Open-label, Single-center, Pilot Randomized Controlled Trial

Aim: This study aims to compare the efficacy and safety of topical application of common salt (CS) in comparison to silver nitrate (SN) for treating infants with umbilical granuloma (UG). Materials and Methods: We conducted an open-label, prospective, single-center, pilot randomized controlled trial. Thirty-seven infants with a clinical UG diagnosis were enrolled between October 2022 and July 2023, excluding those previously treated for UG. Patients were randomly assigned (using the Randomizer® app) to receive either topical CS (applied thrice daily by caregivers at home for 5 days) or SN (applied by pediatric surgeon in clinic and kept under occlusive dressing for 48 h). Patients with partial/no healing received an additional session of the same treatment. Nonresponders transitioned from CS to SN, and vice versa, for two more applications. Healing rates were compared with a significance level of α =0.05. Results: Out of 34 patients (18 CS and 16 SN), 32 successfully completed the trial (17 CS and 15 SN). No significant differences were observed in baseline characteristics. Efficacy rates of CS (19/22; 86.36%) and SN (11/17; 64.71%) did not significantly differ (P = 0.056; 95% confidence interval [CI] −0.4832–0.0502). No major adverse events were reported. CS showed superior healing outcomes in infants below 3 months of age (19/22; 86.36%) compared to SN (11/17; 64.71%) (P = 0.056; 95% CI − 0.4832–0.0502). The timing of umbilical cord detachment did not significantly affect healing rates. Conclusion: Widespread availability, ease of access, suitability for safe home application, and cost-effectiveness make CS a primary treatment option for UG. Larger patient cohorts are needed for conclusive results

Ossifying renal tumor of infancy-a case report

Introduction: An extremely rare pediatric renal tumor, ossifying renal tumor of infancy (ORTI) usually presents in male infants with intermittent episodes of painless gross hematuria. The tumor is benign and surgically treatable. Imaging typically shows a preserved renal outline with a calcified intrapelvic mass. Microscopically, these lesion shows varying components of osteoid, osteoblastic cells, and spindle cells. However, the etiology is unclear. Surgical excision is curative and recurrence or malignant disease is unheard of.We report a case of ORTI and review the literature to assess the clinicopathological features of this unusual neoplasm. Case presentation: A 5-month-old boy was admitted with isolated gross hematuria. Ultrasound showed a well-defined solid mass in the lower pole of right kidney that was heterogenous on CT (Computed Tomography) but without calcifications. Nephrectomy was done and histopathology showed an ossified core surrounded by a spindle cell component confirming the diagnosis of an ORTI. Conclusion: ORTI is a rare benign pediatric renal tumor with some typical clinical, radiological and pathological features. A male infant with painless intermittent macroscopic hematuria with an endophytic calcified renal mass involving the calyceal system, points towards an ORTI as the possible diagnosis

Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India

Leukocyte adhesion deficiency (LAD) Type-III is caused by homozygous mutations in FERMT3 causing Kindlin-3 deficiency. Here we describe three children with molecularly proven LAD-III presenting with neonatal onset mucocutaneous bleeding, infections and persistent neutrophilic leukocytosis. CD18 and CD11a expression on neutrophils was normal in all three, thus ruling out LAD-I. All three had normal platelet glycoprotein expression. Platelet aggregation studies in P2 showed an abnormality similar to Glanzmann thrombasthenia. This article aims to highlight clinical and laboratory clues to the diagnosis of LAD-III, aiding prompt administration of prophylaxis and curative therapy of haematopoietic stem cell transplant

The role of graft T-cell size in patients receiving alemtuzumab serotherapy for non-malignant disorders: results of an institutional protocol

Abstract Although graft T cells assist in engraftment, mediate antiviral immune-reconstitution, and cause graft-versus-host disease, graft size is not determined by T-cell content of the graft. The conventional method of graft size determination based on CD34+ cells with alemtuzumab serotherapy is associated with delayed immune reconstitution, contributing to an increased risk of viral infections and graft failure. Alemtuzumab, a long half-life anti-CD52 monoclonal antibody is a robust T-cell depleting serotherapy, and relatively spares memory-effector T cells compared to naïve T cells. We therefore hypothesized that graft size based on T-cell content in patients receiving peripheral blood stem cell graft with alemtuzumab serotherapy would facilitate immune-reconstitution without increasing the risk of graft-versus-host disease. We retrospectively analysed twenty-six consecutive patients with non-malignant disorders grafted using alemtuzumab serotherapy and capping of graft T cells to a maximum of 600 million/kg. The graft T-cell capping protocol resulted in early immune-reconstitution without increasing the risk of severe graft-versus-host disease. Graft T-cell content correlated with CD4+ T-cell reconstitution and acute graft-versus-host disease. The course of CMV viraemia was predictable without recurrence and associated with early T-cell recovery. No patient developed chronic graft-versus-host disease. Overall survival at one year was 100% and disease-free survival was 96% at a median of 899 days (range: 243–1562). Graft size determined by peripheral blood stem cell graft T-cell content in patients receiving alemtuzumab serotherapy for non-malignant disorders is safe and leads to early T-cell immune-reconstitution with excellent survival outcomes