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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Severe central apnea in two siblings with ALG8-CDG
Severe central apnea in two siblings with ALG8-CDG
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Pdf Summary
This case report describes two siblings with ALG8-CDG, a rare autosomal recessive disorder caused by pathogenic mutations in the ALG8 gene. ALG8 is involved in the glycosylation process, and its mutations lead to hypoglycosylation and altered assembly of glycan precursors in the endoplasmic reticulum. The clinical presentation of ALG8-CDG can vary and may include hypotonia, protein-losing enteropathy, and hepatic involvement.<br /><br />In this case, both siblings experienced severe central apnea, which ultimately led to their deaths. One of the siblings also had epilepsy, which is commonly reported in ALG8-CDG cases. Managing their epilepsy was challenging due to the underlying central apneic episodes. Additionally, one of the siblings had a prolonged QTc interval, which has been reported in the literature, while the other had episodes of tachycardia with a widened QRS complex, which is a new finding in association with ALG8-CDG.<br /><br />Further research is needed to establish guidelines for neurological and cardiorespiratory monitoring in patients with ALG8-CDG. The study also cites several resources and references for further reading on ALG8-CDG and related topics. The pedigree of the patients shows consanguinity in the parents, which may have contributed to the inheritance of the ALG8 mutation.<br /><br />In summary, this case report highlights the expanding phenotype of ALG8-CDG, specifically involving the central nervous system and cardiac electrophysiology. It underscores the challenges in managing epilepsy and cardiac complications in these patients and calls for more research to improve the understanding and management of ALG8-CDG.
Asset Subtitle
Presenting Author - Danielle Luz, MD; Co-Author - Joyce Chung, MD; Co-Author - Alisa Corrado, MD; Co-Author - Mindy H. Li, MD, FACMG;
Meta Tag
Biochemical genetics
Brain/Nervous System
Cardiac/circulatory disorders
Cardiovascular System
Clinical History
Delineation of Diseases
Genetic Testing
Metabolic Disorder
Respiratory System
Co-Author
Joyce Chung, MD
Co-Author
Alisa Corrado, MD
Co-Author
Mindy H. Li, MD, FACMG
Presenting Author
Danielle Luz, MD
Keywords
ALG8-CDG
autosomal recessive disorder
glycosylation process
hypoglycosylation
endoplasmic reticulum
central apnea
epilepsy
QTc interval
tachycardia
consanguinity
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