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Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.
J Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
View Article and Find Full Text PDFPurine Nucleoside Phosphorylase Deficiency: A Case Report of an Extremely Rare Disorder.
Cureus
December 2024
Pediatric Neurology, Armed Forces Hospital Southern Region, Khamis Mushayt, SAU.
Purine nucleoside phosphorylase (PNP) deficiency is one of the very rare types of immune deficiency disorders inherited in an autosomal recessive (AR) manner. PNP deficiency is a progressive immune disorder that can range from severe combined immunodeficiency (SCID) to combined immunodeficiency and is associated with recurrent infections, neurological manifestations, and sometimes autoimmune disorders. In our case, we describe the case of a female patient, two years and six months old, with recurrent infections, severe neutropenia, failure to thrive, and a history of a deceased sister with the same condition.
View Article and Find Full Text PDFCoblation as an effective tool for treating subglottic cysts and hemangiomas in pediatric patients.
BMJ Case Rep
January 2025
Department of Otolaryngology, Albany Medical College, Albany, New York, USA.
Subglottic cysts and hemangiomas are rare but potentially life-threatening conditions in pediatric patients. Subglottic cysts are generally associated with premature infants with a history of prolonged endotracheal intubation, while subglottic hemangiomas are congenital vascular lesions that grow rapidly and are uncommon head and neck tumours in pediatric patients. Both conditions can present with generalised respiratory symptoms such as stridor.
View Article and Find Full Text PDFA Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
Cureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Bartter syndrome is a rare genetic disorder that often presents in the early phase of life and is caused by mutations in multiple genes encoding the transporters and channels, which are responsible for the reabsorption of various ions in the nephrons. Clinically, it presents with vomiting, failure to thrive, and dehydration. Rare instances of acquired Bartter syndrome have been linked to sarcoidosis, tuberculosis, and autoimmune diseases.
View Article and Find Full Text PDFcolonization and undernutrition in infants in rural eastern Ethiopia - a longitudinal community-based birth cohort study.
Front Public Health
January 2025
Department of Animal Sciences, Global Food Systems Institute, and Emerging Pathogens Institute, University of Florida, Gainesville, FL, United States.
Background: is associated with environmental enteric dysfunction (EED) and malnutrition in children. infection could be a linchpin between livestock fecal exposure and health outcomes in low-resource smallholder settings.
Methods: We followed a birth cohort of 106 infants in rural smallholder households in eastern Ethiopia up to 13 months of age.
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