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HYPOTHALAMIC PITUITARY AXIS DYSFUNCTION IN A SEVERELY ASPHYXIATED NEONATE.
West Afr J Med
November 2024
Department of Paediatrics, Gombe State University and Federal Teaching Hospital, Gombe.
Introduction: Perinatal asphyxia is caused by a lack of oxygen to organ systems due to hypoxic or ischemic insult that occurs during labour and delivery. This may lead to multi-organ failure with brain involvement as the major organ of concern.
Case Report: We present a 19-day-old neonate referred to our centre with the complaint of inability to suck since birth and multiple seizures that started on the second day of life.
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
Am J Med Genet A
December 2024
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2.
View Article and Find Full Text PDFEnzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.
J Med Case Rep
July 2024
Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia.
Background: Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha-glucosidase is the standard of care; however, some patients develop anti-recombinant human acid alpha-glucosidase antibodies, leading to reduced efficacy. This case report presents two infants with early-onset Pompe disease who developed IgG antibodies to enzyme replacement therapy and were subsequently treated with methotrexate, highlighting the importance of monitoring antibody development and exploring alternative therapeutic approaches.
View Article and Find Full Text PDFUnusual Presentation of Beckwith-Wiedemann Syndrome in an Extremely Low Birth Weight Infant.
Cureus
June 2024
Department of Pediatrics, Bahrain Defense Force Hospital, Royal Medical Services, Riffa, BHR.
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects fetal growth in which those afflicted present with features pertaining to that, such as macrosomia, macroglossia, hemihypertrophy, and abdominal wall defects. This case reports the presentation of an infant diagnosed with BWS who was born with an extremely low birth weight of 980 grams, in contrast to the typical presentation of overgrowth and macrosomia. As a result, reaching a diagnosis of BWS was delayed until the patient reached eight months of age, when other clinical features of BWS, such as hemihypertrophy, became apparent on follow-up visits.
View Article and Find Full Text PDFCerebrocostomandibular syndrome: a diagnostic challenge.
BMJ Case Rep
May 2024
Department of Neonatology, Rotunda Hospital, Dublin, Ireland
A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated 'high-riding' clavicles.
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