Belgian Journal of Paediatrics
Failure to thrive, from a frequent symptom to a rare diagnosis
Vol. 25 No. 3 (2023), Case reports
Vol. 25 No. 3 (2023)

Failure to thrive, from a frequent symptom to a rare diagnosis

Case reports
Published 2023-10-13
Ninon Chelon
Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels, Belgium
Françoise Mouchet
CHU Saint-Pierre, Division of Infectious Diseases, Université Libre de Bruxelles, Brussels, Belgium
Aurélie Empain
Queen Fabiola Children's University Hospital, Department of Nutrition and Metabolism, Université Libre de Bruxelles, Brussels, Belgium
Audrey Van Hecke
Queen Fabiola Children's University Hospital, Department of Neurology, Université Libre de Bruxelles, Brussels, Belgium
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Keywords

Niemann-Pick disease, type C
failure to thrive
lysosomal storage disease
neurometabolic disorder
infant
case report

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How to Cite

Chelon, N., Mouchet, F., Empain, A., & Van Hecke, A. (2023). Failure to thrive, from a frequent symptom to a rare diagnosis. Belgian Journal of Paediatrics, 25(3), 168–170. Retrieved from http://belgjpaediatrics.com/index.php/bjp/article/view/7
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Abstract

Niemann-Pick type C (NPC) disease is a neurometabolic disorder that causes premature death and rapidly progressive neurological disability. It affects 1 in 100,000 live births and has a heterogeneous presentation.

Case: We present a 3-month-old boy with significant failure to thrive that was initially misdiagnosed as acquired CMV infection.  He had concomitant RSV bronchitis with acute respiratory failure.

Long follow-up, family history and genetic testing led to the diagnosis of Niemann-Pick type C disease.

Conclusion: Long-term follow-up is essential for the diagnosis of rare diseases.

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