prolonged neonatal jaundice

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Niemann-Pick disease type C (NPC) is an autosomal recessive lipid storage disorder. There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases. Niemann-Pick disease type C2 usually presents with respiratory symptoms, cholestasis, neurological impairment, and hepatosplenomegaly. Case report: Here, we report a 3-year-old boy who presented to our hospital with exacerbation of chronic lung disease requiring invasive ventilatory support...

Neonatal cholestasis (NC) starts during the first three months of life and comprises extrahepatic and intrahepatic groups of diseases, some of which have high morbimortality rates if not timely identified and treated. Prolonged jaundice, clay-colored or acholic stools, and choluria in an infant indicate the urgent need to investigate the presence of NC, and thenceforth the differential diagnosis of extra- and intrahepatic causes of NC. The differential diagnosis of NC is a laborious process demanding the accurate exclusion of a wide range of diseases, through the skillful use and interpretation of several diagnostic tests...

OBJECTIVE: To investigate the clinical features and outcomes of children with congenital hypothyroidism (CH) missed by neonatal screening. METHODS: The clinical and laboratory date of 31 children with CH missed by neonatal screening from February 2015 to February 2022 in Guangzhou Women and Children's Medical Center were retrospectively analyzed. Whole-exome high-throughput sequencing analysis was performed in 17 patients. RESULTS: Among the 31 patients, 19 cases (61...

BACKGROUND: Neonatal jaundice is a common condition characterized by a yellowish discoloration of the skin, conjunctiva, and sclera caused by elevated serum or plasma bilirubin levels during the newborn period. The condition is usually not dangerous, but it can progress to severe hyperbilirubinemia, which can lead to acute bilirubin encephalopathy and kernicterus, a bilirubin-induced neurological damage. Therefore, this study aimed to assess the pooled prevalence of neonatal jaundice and its determinants in Ethiopia...

OBJECTIVE: The aim of this cross-sectional study was to assess the state of disease at the time of diagnosis in Danish children with ɑ1-antitrypsin deficiency as Denmark has a high prevalence of ZZ-homozygosity. METHODS: Children either heterozygous, compound heterozygous or homozygous for Z- and S- variants in the SERPINA1-gene were included. Clinical characteristics, SERPINA1-genotype and blood serum (S) concentrations were recorded concurrently with genetic testing...

Summary: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis...

A late preterm female neonate presented with initial respiratory distress and heart murmur attributed to a haemodynamically significant patent ductus arteriosus (hsPDA) not responding to two courses of ibuprofen. Thyroid function performed for prolonged neonatal jaundice at 3 weeks of life suggested central hypothyroidism. Subsequent adrenocorticotropic hormone stimulation test showing hypocortisolism and MRI revealing adenohypophysis hypoplasia confirmed the diagnosis of congenital hypopituitarism (CH). Commencement of hydrocortisone followed by thyroxine replacement coincided with clinical closure of the hsPDA within 72 hours of treatment...

OBJECTIVE: To compare and analyze the clinical characteristics between acute fatty liver of pregnancy (AFLP) and the hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome. METHODS: This is a retrospective cohort study. The clinical data of 13 cases with AFLP and 34 cases with HELLP syndrome were collected from three tertiary referral centers in Yunnan (the First Affiliated Hospital of Kunming Medical University, the Second Affiliated Hospital of Kunming Medical University, and Yan'an Hospital of Kunming City) from January 2016 to December 2021...

Background: Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single tertiary center and estimate the population-level incidence of congenital CPHD. Methods: The retrospective clinical cohort comprised 124 CPHD patients (48 with congenital CPHD) treated at the Helsinki University Hospital (HUH) Children's Hospital between 1985 and 2018...

OBJECTIVE: To investigate the distribution of aetiologies and outcomes in neonates with prolonged neonatal jaundice. DESIGN: An observational study. SETTING: Multiple tertiary centres from the China Neonatal Genome Project. PATIENTS: Term infants with jaundice lasting more than 14 days or preterm infants with jaundice lasting more than 21 days were recruited between 1 June 2016 and 30 June 2020. MAIN OUTCOME MEASURES: Aetiology and outcomes were recorded from neonates with prolonged unconjugated hyperbilirubinaemia (PUCHB) and prolonged conjugated hyperbilirubinaemia (PCHB)...

OBJECTIVES: To determine the frequency of clinical presentation and laboratory profile in the diagnosis of the etiological spectrum of neonatal cholestasis. MATERIAL AND METHODS:  In this prospective cross-sectional study, we recruited children who presented with jaundice and direct hyperbilirubinemia with onset in the first three months of life. The study was conducted between April 2019 to March 2021 (24 months) at the Government Lady Reading Hospital of Khyber Pakhtunkhwa province in Pakistan...

BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations. ARC syndrome typically presents with arthrogryposis, renal tubular leak and neonatal cholestatic jaundice, and most patients with this disease do not survive beyond one year. CASE PRESENTATION: Here, we report the case of a 13-year-old girl with ARC featuring an incomplete and mild phenotype with novel compound heterozygous mutations of VPS33B...

Neonatal jaundice is common and associated with delay in hospital discharge and risk of neurological sequelae if not treated. The objectives of the study were to report on our experience of the monitoring and treatment of neonatal jaundice in a home care setting and its feasibility and safety for neonates with high risk of severe hyperbilirubinemia. The 2-year study has been led in the greater Paris University Hospital At Home (Assistance Publique-Hôpitaux de Paris). The device of the intervention was the Bilicocoon® Bag, a light-emitting diode sleeping bag worn by the neonate when the total serum bilirubin value exceeds intensive phototherapy threshold, according to the guidelines from the American Academy of Pediatrics...

BACKGROUND: Neonatal hyperbilirubinemia is observed in most newborns, and 5-15% of neonates require phototherapy. Phototherapy is effective but often prolongs hospitalization and has both short-term and potential long-term harms. The aim of this systematic review and meta-analysis was to evaluate the role of ursodeoxycholic acid (UDCA) combined with phototherapy in neonatal hyperbilirubinemia. METHODS: A literature search was conducted on September 1, 2021; 590 studies were screened, and 17 full texts were assessed by two authors...

BACKGROUND: Neonatal adrenal hemorrhage (NAH) is an almost infrequent phenomenon (0.2-0.55%). Mechanical compression and alterations of venous pressure during delivery are considered the most probable explanations. Approximately 10% of the cases might have bilateral involvement. Clinical symptoms include abdominal mass, poor feeding, vomiting, prolonged jaundice, and anemia. Subgaleal hemorrhage (SGH) is one of the most clinically remarkable and potentially hazardous postnatal cranial injuries...

BACKGROUND: Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C > T) in homozygous newborns. We describe the clinical, laboratory and therapeutic approach in two Chinese neonates with severe jaundice, homozygous for the P364L mutation. CASE PRESENTATION: Two Chinese breastfed female infants presented prolonged unconjugated hyperbilirubinemia at the age of 1 month...

Introduction Central congenital hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. Here, we describe four familial cases with a variable presentation due to a novel IGSF1 pathogenic variant. Case presentation In the index case, investigation at birth of suspected brain-lung-thyroid syndrome surprisingly revealed a central hypothyroidism. Next-generation sequencing (NGS) uncovered a novel IGSF1 pathogenic variant: a hemizygous single base duplication (G) resulting in a premature stop codon (NM_001555...

Background and objectives: Gestational diabetes mellitus (GDM) is a significant risk factor of maternal and fetal complications. The aim of the study was to compare two groups of patients with GDM treated in 2015/2016 (Group-15/16), and in 2017/2018 (Group-17/18) and to answer the question whether the change in the diagnostic criteria for GDM affected maternal and fetal complications. Materials and Methods : A retrospective analysis was conducted. The study included 123 patients with GDM (58 patients/Group-15/16 and 65 patients/Group-17/18)...

Globally, 30 million low birth weight (LBW) babies are born every year and 95% of them are from developing countries. LBW neonates are at a high risk of mortality, morbidity, and long-term disability. The objective of this study is to investigate outcomes and disease spectrum among low birth weight neonates. This is a prospective, observational study conducted on 540 neonates admitted in the Mother and Child Hospital, Akure, Ondo State, Nigeria, from 2017 to 2018. Questionnaire, interview, clinical, and diagnostic procedures were used as research tools...