Failure to thrive is frequently seen in breastfed infants. The most common diagnosis is insufficiency of breast milk in an otherwise healthy child. However, several differential diagnoses need to be considered. Progressive feeding difficulties and failure to thrive can be the first manifestation of group B streptococcal ventriculitis. This rare disease does not present with acute symptoms of sepsis or meningitis but evolves insidiously with no fever. Diagnosis is therefore often delayed and made only when intracranial hypertension develops. Cerebrospinal fluid (CSF) culture confirming the group B streptococcal infection and cerebral imaging are the necessary investigations for diagnosis. To our knowledge, only 10 cases have been previously reported.
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http://dx.doi.org/10.1016/j.arcped.2008.12.031 | DOI Listing |
Cureus
December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
View Article and Find Full Text PDFLancet Respir Med
December 2024
Population Policy and Practice Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:
Background: In phase 2 trials in people with cystic fibrosis aged 18 years and older, vanzacaftor-tezacaftor-deutivacaftor has been shown to be a safe and effective, once-daily cystic fibrosis transmembrane conductance regulator (CFTR) modulator. Restoring normal CFTR function early in life has the potential to prevent manifestations of cystic fibrosis. We aimed to evaluate the safety, tolerability, efficacy, and pharmacokinetics of vanzacaftor-tezacaftor-deutivacaftor in children with cystic fibrosis aged 6-11 years.
View Article and Find Full Text PDFJ Surg Res
January 2025
Department of Pediatric Surgery, Massachusetts General Hospital, Boston, Massachusetts.
Introduction: Pediatric-onset Crohn's disease (CD) has a more severe phenotype than adult-onset, and nearly one-third of pediatric CD patients will require surgical therapy. There is limited data on patient/disease characteristics that are associated with earlier surgical management.
Methods: All pediatric CD patients (<22 yrs) who underwent ileocolectomy from 2005 to 2021 were included.
J Dev Biol
November 2024
Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Barth syndrome (BTHS) is a rare, infantile-onset, X-linked mitochondriopathy exhibiting a variable presentation of failure to thrive, growth insufficiency, skeletal myopathy, neutropenia, and heart anomalies due to mitochondrial dysfunction secondary to inherited TAFAZZIN transacetylase mutations. Although not reported in BTHS patients, male infertility is observed in several () mouse alleles and in a mutant. Herein, we examined the male infertility phenotype in a BTHS-patient-derived point-mutant knockin mouse () allele that expresses a mutant protein lacking transacetylase activity.
View Article and Find Full Text PDFClin Exp Pediatr
December 2024
Department of Pediatrics and Neonatology, Hospital Privado Universitario de Córdoba., Córdoba., Argentina.
Very preterm infants (VPIs) often experience extrauterine growth failure. Therefore, aggressive nutritional management of VPIs is recommended with the goal of achieving the postnatal growth of an equivalent fetus. However, VPIs frequently present postnatal length growth restriction at term-corrected age that remains lower than the standard weight and have greater fat mass and lower lean and bone mass than term-born infants.
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