Three cases of congenital brain tumours are reported, which presented with signs of increased intracranial pressure soon after birth, giving rise to the suspicion of a cerebral haemorrhage or of hydrocephalus. Correct diagnosis of tumour was established by computerised tomography, which additionally demonstrated a concomitant haematoma in each case. Two of the newborns had a primarily fatal course, with no specific treatment of the tumours being feasible. The remaining child underwent two operations, experiencing an unhindered neurologic and mental development thereafter. The histologic diagnoses were spongioblastoma and medulloblastoma in the first two cases, and ganglioneuroblastoma in the last. A conspicuous clinicopathologic feature of this neuroblastoma was the marked change in its growth pattern, revealing a higher degree of histologic differentiation and less malignant biological behaviour when tumour regrowth occurred. The diagnostic, therapeutic, and prognostic implications for this special clinicopathologic condition are discussed, with a review of the relevant literature.
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Cell Mol Life Sci
January 2025
Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale Et Fonctionnelle, 59000, Lille, France.
Glycans are known to be fundamental for many cellular and physiological functions. Congenital disorders of glycosylation (CDG) currently encompassing over 160 subtypes, are characterized by glycan synthesis and/or processing defects. Despite the increasing number of CDG patients, therapeutic options remain very limited as our knowledge on glycan synthesis is fragmented.
View Article and Find Full Text PDFAnn Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Purpose: To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.
Methods: We retrospectively analyzed 444 patients diagnosed with childhood-onset CPHD at a tertiary center between 1994 and 2021. After excluding acquired case, 43 patients with cCPHD were enrolled.
Surg Neurol Int
December 2024
Department of Neurosurgery, Sohail Trust Hospital, Karachi, Pakistan.
Background: Congenital arterial defects such as cerebral arteriovenous malformations (AVMs) increase brain bleeding risk. Conservative therapy, microsurgical removal, percutaneous embolization, stereotactic radiosurgery (SRS), or a combination may treat this serious disease. This study compares angioembolization with SRS to SRS alone in ruptured or unruptured brain ateriovenous malformations (BAVM) patients.
View Article and Find Full Text PDFPediatr Cardiol
January 2025
Service of Cardiac Surgery, Lausanne University Hospital and University of Lausanne, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
Cardiac surgery, both adult and pediatric, has developed very rapidly and impressively over the past 7 decades. Pediatric cardiac surgery, in particular, has revolutionized the management of babies born with congenital heart disease such that now most patients reach adult life and lead comfortable lives. However, these patients are at risk of cerebral lesions, which may be due to perioperative factors, such as side effects of cardiopulmonary bypass and/or anesthesia, and non-perioperative factors such as chromosomal anomalies (common in children with congenital heart disease), the timing of surgery, number of days on the intensive care unit, length of hospitalization and other hospitalizations in the first year of life.
View Article and Find Full Text PDFVet Res Commun
January 2025
Department of Veterinary Medicine, University of Perugia, Via San Costanzo, 4, Perugia, 06126, Italy.
This study describes the congenital goiter in an alpaca (Vicugna pacos) fetus aborted in November 2021 with the clinical and pathological findings in the dam that was found dead on the farm three weeks after a miscarriage. The dam was a black coat alpaca bred in the Netherlands, imported in Italy in January 2021, and housed in a farm of central Italy for breeding purposes. Signalment and clinical data on dam and fetus were collected from the farmer and referring veterinarian.
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