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Introduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early manifestations have also been reported.
View Article and Find Full Text PDFExtracorporeal membrane oxygenation for catecholaminergic polymorphic ventricular tachycardia: a case report and literature review.
BMC Pediatr
January 2025
Department of PICU, Children's Medical Center, the First Hospital of Jilin University, 1 Xinmin Street, Changchun, Jilin Province, China.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited ion channelopathy characterized by a structurally normal heart sensitive to catecholamines. It primarily presents as Bidirectional ventricular tachycardia (BiVT) and is a significant cause of sudden cardiac death in children.
Case Presentation: We report our experience with central Extracorporeal Membrane Oxygenation (ECMO) therapy in a 4-year-old boy with CPVT.
A 4-year-old Boy Positive for Anti-rabphilin-3A Antibody and Diagnosed With Lymphocytic Infundibuloneurohypophysitis.
JCEM Case Rep
January 2025
Department of Endocrinology, Diabetes and Metabolism, School of Medicine, Fujita Health University, Aichi 470-1192, Japan.
Lymphocytic infundibuloneurohypophysitis (LINH) is a disease with an etiology involving an autoimmune mechanism, characterized by lymphocytic inflammation of the posterior pituitary and infundibular stalk, resulting in arginine vasopressin deficiency. It is difficult to distinguish from pituitary neoplasm or infiltrative diseases, and biopsy is necessary for a definitive diagnosis, but this is highly invasive. In children, it is especially important to distinguish LINH from tumors such as germ cell tumors.
View Article and Find Full Text PDFGiant duodenal perforation: A rare malaria complication in a child; a case report and review of literature.
Int J Surg Case Rep
December 2024
Department of Surgery, Debre Tabor University, Debre Tabor, Ethiopia. Electronic address:
Introduction And Importance: Duodenal perforation, while uncommon, is a serious cause of acute abdomen in children. The causes of acute abdomen in children vary widely based on factors like geography and socioeconomic status. In developing countries, where infectious diseases are more prevalent, malaria can contribute to this condition.
View Article and Find Full Text PDFLeopard spot retinopathy represents the initial sign of rhegmatogenous retinal detachment in children: a report of two cases.
BMC Ophthalmol
December 2024
Department of Ophthalmology, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei Province, China.
Background: Leopard spots can appear in a variety of diseases; however, they are extremely rare in children with rhegmatogenous retinal detachment. This study presents two such rare cases in which leopard spot retinopathy was the initial manifestation of rhegmatogenous retinal detachment.
Case Presentation: Case 1 involved a 4-year-old boy had previously been diagnosed with left eye uveitis and received systemic steroid therapy at a local hospital, but symptoms persisted.
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