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Dent's disease: case series from a single center.
Turk J Pediatr
November 2024
Department of Pediatric Nephrology, Gazi University, Ankara, Türkiye.
Background: Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.
Cases: The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected.
Long-term follow-up of ocular involvement in hereditary mucoepithelial dysplasia.
J AAPOS
October 2024
Department of Ophthalmology, Olmsted Medical Center, Rochester, Minnesota.
An 11-month-old boy with nonscarring alopecia was referred for ophthalmic evaluation because of photophobia from the age of 4 months. Whole-exome sequencing identified a heterozygous mutation in the SREBF1 gene, confirming the diagnosis of hereditary mucoepithelial dysplasia. Ocular examination revealed meibomian gland dysfunction and superficial corneal vascularization and opacity.
View Article and Find Full Text PDFA DNA Polymerase Subunit Gamma (POLG) Mutation Imposing a Difficult Differential Diagnosis of Hepatic Encephalopathy in a Newborn: A Case Report.
Cureus
July 2024
Anesthesiology and Intensive Care, Children's Memorial Health Institute, Warsaw, POL.
Hepatic encephalopathy (HE) is a condition connected with neuropsychiatric alteration during hepatic failure. The differential diagnosis of HE is challenging due to overlapping symptoms with other conditions. Polymerase subunit gamma (POLG) is a mitochondrial gene, and an infant POLG mutation can manifest with severe and progressive hepatic failure and encephalopathy, imposing a difficult differential diagnosis due to similarities to other conditions.
View Article and Find Full Text PDFCoexistence of cecal duplication cyst and Meckel's diverticulum presenting as intestinal obstruction: A case report.
Int J Surg Case Rep
August 2024
Department of General Surgery, Maharajgunj Medical Campus, Tribhuvan University Teaching Hospital, Nepal. Electronic address:
Introduction: Enteric duplication cysts (EDC) are rare anomalies of the gastrointestinal tract, with only 0.4 % occurring in the cecum. Meckel's diverticulum (MD) is a common congenital anomaly affecting up to 2 % of the population.
View Article and Find Full Text PDFAbstract: The "hypotonic drink syndrome" is characterized by loss of appetite, normal activity levels and, in some cases, intestinal disturbances in children with an intake of more than 30% of the recommended daily calories in the form of non-dairy drinks. Diarrhea and growth retardation are possible complications due to the amount of nonnutritive calorie intake ("empty calories") contained in this type of hypotonic beverages.We present the case of an 11-month-old boy who suffered a "Squash drinking syndrome" requiring admission to the pediatric intensive care unit because of a status seizure secondary to a severe hyponatremia (118 mmol/L) due to massive ingestion of hypotonic drinks, such as squash.
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