# Wilson’s Disease with Lymphoproliferative Disorder: A Case Report

**Authors:** Ashish Jha, Saroj Kumar Shah, Ravi Ranjan Pradhan

PMC · DOI: 10.31729/jnma.8983 · JNMA: Journal of the Nepal Medical Association · 2025-05-31

## TL;DR

A 12-year-old child presented with Wilson's disease and an unusual lymphoproliferative disorder, highlighting the complexity of diagnosing this condition.

## Contribution

This case report adds a rare hematological manifestation to the clinical spectrum of Wilson's disease.

## Key findings

- The patient exhibited pancytopenia and lymphoproliferative disorder in bone marrow.
- Wilson's disease was confirmed via Kayser-Fleischer rings, low ceruloplasmin, and high urinary copper.
- Neurological symptoms like dysarthria and tremors were also observed alongside behavioral changes.

## Abstract

Wilson's disease is characterized by copper accumulation in organs like liver, brain, and eyes, presenting with a varied clinical features, making it challenging to diagnose. This report describes a case of Wilson's disease with unusual hematological features. A 12-year-old from Himalayan region presented with weakness, dysarthria, tremors. Initial investigations revealed pancytopenia, and bone marrow showed a lymphoproliferative disorder. He developed behavioral changes, a flat affect, and scanning speech. Wilson's disease was confirmed through Kayser-Fleischer rings, reduced serum ceruloplasmin levels, and elevated urinary copper, supported by imaging.

## Linked entities

- **Diseases:** Wilson's disease (MONDO:0010200), lymphoproliferative disorder (MONDO:0016537)

## Full-text entities

- **Genes:** ATP7B (ATPase copper transporting beta) [NCBI Gene 540] {aka PWD, WC1, WD, WND}, CP (ceruloplasmin) [NCBI Gene 1356] {aka AB073614, CP-2}
- **Diseases:** lymphocytosis (MESH:D008218), abdominal swelling (MESH:D000007), Lymphoproliferative Disorder (MESH:D008232), autosomal recessive disorder of copper (MESH:C535468), speech abnormalities (MESH:D013064), Hemolytic anemia (MESH:D000743), lymphoproliferative bone marrow disorder (MESH:D001855), neuropsychiatric (MESH:C000631768), renal involvement (MESH:C565423), portal hypertension (MESH:D006975), ascites (MESH:D001201), anemia (MESH:D000740), hypersplenism (MESH:D006971), tremors (MESH:D014202), death (MESH:D003643), hematological disorder (MESH:D006402), inability (MESH:C564980), autosomal recessive disorder (MESH:D030342), neurological deficits (MESH:D009461), thalassemia (MESH:D013789), WD (MESH:D006527), splenomegaly (MESH:D013163), thalassemia minor (MESH:D017086), drooling (MESH:D012798), dysarthria (MESH:D004401), hepatic and neuropsychiatric manifestations (MESH:D012877), jaundice (MESH:D007565), pancytopenia (MESH:D010198), limb weakness (MESH:D018908), hepatic and neuropsychiatric symptoms (MESH:D001523), PRESENTATION (MESH:D001946), fainting (MESH:D013575), dysmorphic features (MESH:D000013), dyserythropoiesis (MESH:C566368), hepatic or neurological complications (MESH:D008107)
- **Chemicals:** copper (MESH:D003300), D-penicillamine (MESH:D010396)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

7 references — full list in the complete paper: https://tomesphere.com/paper/PMC12831825/full.md

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Source: https://tomesphere.com/paper/PMC12831825