The authors report the case of an term infant weighing 2,860 kgs, who presented with failure to thrive during the two first months of life. Clinical features suggested the diagnosis of leprechaunism. After a review of the literature, the authors conclude that the diagnosis of this rare condition is essentially a clinical one, as there are no specific laboratory tests.
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JAMA Netw Open
January 2025
University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Importance: A substantial number of individuals worldwide experience long COVID, or post-COVID condition. Other postviral and autoimmune conditions have a female predominance, but whether the same is true for long COVID, especially within different subgroups, is uncertain.
Objective: To evaluate sex differences in the risk of developing long COVID among adults with SARS-CoV-2 infection.
Med J Aust
October 2024
Queensland Health, Brisbane, QLD.
Ann Intern Med
September 2024
Departments of Pediatrics and Medicine, Case Western Reserve University, and University Hospitals Cleveland Medical Center, Cleveland, Ohio (G.A.M.).
BMC Pediatr
May 2024
College of Medicine, University of Baghdad, Baghdad, Bab Al-Muaddam, Iraq.
Introduction: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4 million live births. The syndrome is distinguished by a series of characteristic clinical features.
View Article and Find Full Text PDFInt J Mol Sci
March 2024
Department of Pediatrics, University Children's Hospital Bern, Inselspital, 3010 Bern, Switzerland.
Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first case of RMS in a Paraguayan patient. The patient is a 6-year-old girl who presented with hypertrichosis, acanthosis nigricans, nephrocalcinosis, and elevated levels of glucose and insulin that served as diagnostic indicators for RMS.
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