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Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan
Sohail Kumar1, Deedar Nanjiani2, Faryal Tahir2
1Internal Medicine, Dow Medical College and Dr. Ruth K. M. Pfau Civil Hospital Karachi, Karachi, PAK.
Insights
Chylomicron retention disease (CMRD), a genetic disorder, can be challenging to diagnose early. Dietary changes with medium- and short-chain fatty acids offer a crucial therapeutic trial for diagnosis and management, especially in resource-limited settings.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Gastroenterology
- Rare Disease Research
Background:
- Chylomicron retention disease (CMRD), or Anderson's disease, is an autosomal recessive disorder caused by mutations in the SAR1B gene.
- Classic symptoms include steatorrhea, vomiting, failure to thrive, and abdominal bloating, typically presenting in infancy or childhood.
Observation:
- A 50-day-old male infant initially presented with non-specific symptoms mimicking acute gastroenteritis and sepsis.
- Despite initial management, the infant's condition deteriorated, prompting further investigation.
- Diagnostic clues included lipid profiles, clinical presentation, and pathological findings suggestive of CMRD.
Findings:
- A presumptive diagnosis of CMRD was established based on clinical and laboratory findings.
- The patient demonstrated significant clinical improvement following a therapeutic trial of medium- and short-chain fatty acids.
- This highlights the diagnostic and therapeutic value of dietary interventions in CMRD.
Implications:
- In resource-restricted settings, a dietary trial with medium- and short-chain fatty acids is crucial for diagnosing CMRD.
- Early diagnosis and intervention can prevent severe complications associated with chylomicron retention.
- This approach supports timely management in areas with limited diagnostic resources.
Abstract:
Chylomicron retention disease (CMRD), also known as Anderson's disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdominal bloating shortly after birth or in childhood. Here, we report a rare case of a 50-day-old male infant who was, at first, overseen as a case of acute gastroenteritis with sepsis owing to the non-specific symptoms i.e. multiple episodes of loose stools with a low-grade fever and failure to thrive, and was managed accordingly. However, the symptoms did not resolve; moreover, the clinical condition deteriorated. Later, lipid profile, clinical presentation and pathological features led to a presumptive diagnosis of CMRD. Our patient showed significant improvement when treated with a trial of medium- and short-chain fatty acids. We conclude that, in resource-restricted countries, a therapeutic trial with the dietary changes is essential to not only prevent the devastating complication but also support the diagnosis.
