Chylomicron Retention Disease: Failure to Thrive and Abdominal Distention in an Infant

Area of Science:

• Biochemistry
• Pediatrics
• Genetics

Background:

• Chylomicron retention disease (CRD) is a rare genetic disorder affecting lipid absorption and transport.
• It is characterized by the inability of enterocytes to package and secrete chylomicrons into the lymph.
• Typical symptoms include diarrhea, vomiting, and failure to thrive, often presenting before six months of age.

Observation:

• This case report details an infant diagnosed with CRD at one year of age.
• The infant presented with failure to thrive and progressive abdominal distention, but notably lacked early or persistent diarrhea and vomiting.
• Laboratory findings revealed increased stool fat and dyslipidemia, including low apolipoprotein B, HDL, LDL, and total cholesterol.

Findings:

• The diagnosis of CRD was confirmed despite the atypical absence of common gastrointestinal symptoms.
• This case challenges the assumption that diarrhea or vomiting are mandatory early indicators of CRD.
• Biochemical markers such as elevated fecal fat and characteristic lipid profiles were crucial for diagnosis.

Implications:

• This report expands the clinical spectrum of chylomicron retention disease presentation in infants.
• It emphasizes the importance of considering CRD in infants with failure to thrive and abdominal distention, even without classic digestive symptoms.
• Early recognition and diagnosis are vital for managing this rare condition and preventing long-term complications.