Belgian Journal of Paediatrics
Failure to thrive, from a frequent symptom to a rare diagnosis
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Keywords

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

Categories

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.be/index.php/bjp/article/view/7

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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