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Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder
H Mandel1, D Meiron, R B Schutgens
1Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Insights
Infantile Refsum disease (IRD) can initially mimic lipid disorders, presenting as malabsorption and low cholesterol. Early recognition is crucial for accurate diagnosis and genetic counseling in affected families.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infantile Refsum disease (IRD) is a rare peroxisomal disorder.
- Clinical presentation of IRD can be highly variable, posing diagnostic challenges.
Observation:
- Two siblings presented with malabsorption and hypocholesterolemia, mimicking other genetic lipid disorders.
- Delayed diagnosis in the first sibling impacted genetic counseling and subsequent prenatal diagnosis.
Findings:
- Protracted diarrhea and low serum cholesterol are frequent early signs of IRD in infancy.
- Clinical heterogeneity of peroxisomal disorders necessitates high clinical awareness.
Implications:
- Timely diagnosis of IRD is essential for appropriate management and family planning.
- Increased awareness of IRD's varied presentation can improve early detection rates.
Abstract:
This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in subsequent pregnancies and also caused considerable delay in diagnosing IRD in the second child. The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge, which demands a high degree of awareness from the part of the clinician. This is particularly the case with IRD, where protracted diarrhea with low serum cholesterol levels appears to be a frequently occurring initial feature during the 1st months of life.