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Infantile cystinosis presenting as chronic constipation
Farahnak K Assadi1, Richard H Sandler, Paul W Wong
1Department of Pediatrics, Rush Presbyterian St. Luke's Medical Center, Rush University Medical College, Chicago, IL, USA. fassadi@rush.edu
Summary
Persistent constipation can be the first sign of cystinosis in infants, preceding kidney issues. Early diagnosis is crucial, even with unusual initial symptoms like constipation, for timely intervention in this rare disease.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Genetic Diseases
Background:
- Cystinosis is a rare lysosomal storage disease caused by mutations in the CTNS gene, leading to cystine accumulation.
- The classic presentation involves renal Fanconi's syndrome, often diagnosed later in infancy or childhood.
- Gastrointestinal symptoms are common but typically not the primary presenting complaint.
Observation:
- An infant presented with persistent constipation as the sole initial clinical manifestation.
- Other symptoms like muscle weakness, failure to thrive, polydipsia, and polyuria developed subsequently.
- This case highlights an atypical early presentation of cystinosis.
Findings:
- Persistent constipation was the first recognized symptom, preceding overt signs of renal Fanconi's syndrome.
- Diagnostic evaluation confirmed cystinosis, underscoring the variability in its clinical onset.
- This represents a previously unreported initial presentation of the disease.
Implications:
- Constipation in infants, especially when persistent and accompanied by other subtle signs, warrants consideration of cystinosis in the differential diagnosis.
- Recognizing atypical presentations can lead to earlier diagnosis and management of cystinosis.
- This case expands the understanding of cystinosis's diverse clinical spectrum in early childhood.