An Unusual Presentation of Wilson's Disease.
Cureus
; 16(4): e58407, 2024 Apr.
Article
de En
| MEDLINE
| ID: mdl-38756326
ABSTRACT
Wilson's disease affects the metabolism of copper and is a rare hereditary disorder that is inherited autosomally recessively. The liver and brain are the main organs affected by this disorder, which causes progressive hepatolenticular degeneration. A 15-year-old male patient arrived at the outpatient department (OPD) with mild abdominal pain on the right side, and both eyes showed Kayser-Fleischer (KF) rings. An abdominal ultrasound showed that the spleen was enlarged. Copper levels in urine were found to be higher. After a liver biopsy, cirrhosis, and mild chronic active hepatitis were found. The majority of hematological indicators were normal; however, a peripheral blood smear revealed mild thrombocytopenia. Wilson's disease is uncommon, so diagnosing it requires a high degree of suspicion. In circumstances of inexplicable liver cirrhosis or isolated neurological symptoms, it could go unnoticed. The only primary complaint in the case being presented was abdominal pain. However, the age upon presentation, the existence of KF rings in both eyes, and other tests helped us get the diagnosis.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Langue:
En
Journal:
Cureus
Année:
2024
Type de document:
Article
Pays de publication:
États-Unis d'Amérique