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A Case of Megaspleen With Micrographism
Sourav Bansal1, Rishman Tandi1, Sweta Sahu2
1Medicine, Government Medical College, Amritsar, IND.
Cureus
|October 24, 2022
Summary
This case highlights Wilson disease, an inherited copper metabolism disorder. Early clinical examination is crucial for diagnosing this rare condition, even with atypical symptoms.
Area of Science:
- Genetics
- Metabolic Disorders
- Neurology
Background:
- Wilson disease is an autosomal recessive inherited disorder affecting copper metabolism.
- It can lead to severe liver and neurological complications if untreated.
Observation:
- A 13-year-old presented with fatigue, abdominal pain, and micrographia.
- Clinical findings included hepatosplenomegaly, anemia, thrombocytopenia, and abnormal liver function tests.
- Ophthalmic examination revealed Kayser-Fleischer rings, and brain MRI showed characteristic changes in the basal ganglia.
Findings:
- Diagnosis confirmed by decreased serum ceruloplasmin and increased urinary copper excretion.
- Neuroimaging demonstrated bilateral, symmetric hyperintensities in the caudate and lentiform nuclei.
- The patient exhibited a rare, atypical presentation of Wilson disease.
Implications:
- This case underscores the importance of thorough clinical evaluation in diagnosing Wilson disease.
- Recognizing atypical presentations is key to timely intervention and management.
- Early diagnosis and treatment can prevent irreversible neurological and hepatic damage.
