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Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report.
Wen-Hao Lin1, Zu-Han Zhang1, Hong-Li Wang1
1Department of Gastroenterology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong Province, China.
World Journal of Clinical Cases
|June 11, 2020
Summary
Primary intestinal lymphangiectasia (PIL) may be linked to tuberous sclerosis complex (TSC). Genetic screening for TSC is recommended in PIL patients with specific symptoms like hypomelanotic macules.
Area of Science:
- Gastroenterology
- Genetics
- Rare Diseases
Background:
- Primary intestinal lymphangiectasia (PIL) is a rare congenital protein-losing enteropathy.
- The etiology of PIL remains largely unknown.
- PIL shares potential molecular pathways and symptoms with tuberous sclerosis complex (TSC).
Observation:
- A case study involved a patient with a three-year history of PIL presenting with abdominal distension and leg swelling.
- The patient's mother had a diagnosed history of TSC.
- The patient exhibited multiple hypopigmented macules, prompting further investigation.
Findings:
- Diagnostic evaluations, including imaging and TSC gene analysis, confirmed the patient met the criteria for TSC.
- Molecular-level changes in TSC are associated with abnormal lymphatic vessel development.
- The patient received symptomatic treatment for PIL.
Implications:
- Genetic screening for TSC should be considered in patients diagnosed with PIL, particularly those presenting with hypomelanotic macules or enamel hypoplasia.
- This association highlights a potential genetic link between PIL and TSC.
- Early diagnosis of TSC in PIL patients may improve patient management and outcomes.
