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Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease

Part of: Metabolic

Published online by Cambridge University Press:  25 January 2019

Osman Yeşilbaş Open the ORCID record for Osman Yeşilbaş [Opens in a new window]  and
Serdar Epçaçan Open the ORCID record for Serdar Epçaçan [Opens in a new window]
Osman Yeşilbaş*
Affiliation:
Pediatric Intensive Care Unit, Van Training and Research Hospital, University of Health Sciences, Van, Turkey
Serdar Epçaçan
Affiliation:
Pediatric Cardiology, Van Training and Research Hospital, University of Health Sciences, Van, Turkey
*
Author for correspondence: O. Yesilbas, MD, Pediatric Intensive Care Unit, Van Training and Research Hospital, University of Health Sciences, Süphan Mahallesi, Havayolu Kavşağı, Edremit, Van 65300, Turkey. Tel: +90 533 541 97 22; Fax: +90 432 212 19 54; E-mail: [email protected]
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Abstract

Infantile-onset Pompe disease is a lysosomal storage disorder characterised with hypertrophic cardiomyopathy, respiratory insufficiency, and hypotonia. Dilated cardiomyopathy is an extremely rare and curable complication of nutritional hypocalcaemic rickets. A 3-month-old female infant was referred to our paediatric ICU with a 4-day history of fatigue, tachypnoea, tachycardia, hypoxia, and respiratory failure. According to the laboratory, radiology, and echocardiography findings, she was first diagnosed with nutritional hypocalcaemic rickets-related dilated cardiomyopathy, but vitamin D and elementary calcium supplementation unmasked the underlying infantile-onset Pompe disease. Nutritional hypocalcaemic rickets and infantile-onset Pompe disease must always be kept in mind among the causes of concomitant dilated cardiomyopathy and hypertrophic cardiomyopathy.

Keywords

Dilated cardiomyopathyhypertrophic cardiomyopathyinfantile-onset Pompe diseasenutritional hypocalcaemic rickets
Type
Brief Report
Information
Cardiology in the Young , Volume 29 , Issue 3 , March 2019 , pp. 425 - 427
Copyright
© Cambridge University Press 2019 

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Footnotes

Cite this article: Yeşilbaş O, Epçaçan S. (2019) Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease. Cardiology in the Young29: 425–427. doi: 10.1017/S1047951118002287

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