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“A Complex Conundrum”- Fanconi-Bickel Syndrome
Correspondence Address :
Dr. Vaanmathi Azhagar Nambi Santhi,
Assistant Professor, Department of Paediatrics, Saveetha Medical College and Hospital, SIMATS University, Saveetha Nagar, Thandalam, Chennai-602105, Tamil Nadu, India.
E-mail: vaanmathis@gmail.com
Fanconi-Bickel Syndrome (FBS) is a rare form of Glycogen Storage Disease (GSD) type 11 characterised by massive hepatomegaly due to the buildup of glycogen and severe hypophosphatemic rickets due to a proximal renal tubular dysfunction. Since 1940, it has been initially known as hepatorenal glycogenesis with proximal renal tubular dysfunction. It is due to a pathogenic mutation of the GLUT-2 (glucose transporter) gene. Herein, present case report a young toddler who is the firstborn of 3rd-degree consanguinity, presented with rickets, recurrent respiratory tract infections, and hepatomegaly, and was subsequently diagnosed with FBS with the help of genetic studies, showing a mutation in the GLUT-2 gene. With less than 200 cases reported so far, this child represents a unique case with recurrent respiratory infections and developmental delay as presentations along with rachitic features.
Hepatomegaly, Hypophosphatemia, Glycogen storage disorders, Rickets
DOI: 10.7860/JCDR/2024/70909.19453
Date of Submission: Mar 26, 2024
Date of Peer Review: Apr 18, 2024
Date of Acceptance: Apr 26, 2024
Date of Publishing: May 01, 2024
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Mar 26, 2024
• Manual Googling: Apr 20, 2024
• iThenticate Software: Apr 23, 2024 (10%)
ETYMOLOGY: Author Origin
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