Undiagnosed and Rare Diseases.

Pediatr Clin North Am

Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, Children's Corporate Center, 999 North 92nd Street-Suite C560, Milwaukee, WI 53226, USA. Electronic address:

Published: February 2017

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pcl.2016.10.002DOI Listing

Publication Analysis

Top Keywords

undiagnosed rare
4
rare diseases
4
undiagnosed
1
diseases
1

Similar Publications

Congenital syphilis remains a significant global health concern, with severe morbidity and mortality if undiagnosed and untreated. Although many infants appear asymptomatic at birth, subtle clinical signs-including bullous lesions (congenital bullous syphilis, also known as pemphigus syphiliticus)-may facilitate early detection. Recognizing this rare manifestation is crucial for timely intervention, reducing serious outcomes.

View Article and Find Full Text PDF

A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.

View Article and Find Full Text PDF

Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!