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Purine 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 PDFDouble left brachiocephalic vein in a paediatric patient with CHD: a case report.
Indian J Thorac Cardiovasc Surg
February 2025
Department of Paediatric Cardiothoracic Surgery, Sri Satya Sai Sanjeevani Centre for Child Heart Care and Training in Pediatric Cardiac Skills, Atal Nagar- Nava Raipur 492101, Chhattisgarh Atal Nagar-Nava Raipur, India.
Anomalous brachiocephalic vein (ABCV) is a rare entity of head and neck venous channel variations and malformations. Amongst the five subtypes of ABVC, double left brachiocephalic vein (DLBCV) is the rarest. We present the case of a 1-year-11-month-old syndromic child, who had global developmental delay (GDD) with Sprengel deformity and failure to thrive (suspected Klippel Feil phenotype), who presented to us for the cardiac evaluation.
View Article and Find Full Text PDFA two-month-old developmentally normal full-term female presented with severe feeding intolerance, progressive weight loss, and persistent fussiness, leading to multiple emergency department visits and eventual hospitalization. Initial evaluations, including laboratory tests and imaging, were unremarkable, prompting a series of diagnostic and therapeutic interventions. A multidisciplinary approach, including empiric gastroesophageal reflux disease (GERD) therapy, was started.
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