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Wolman Disease: A Mimic of Infant Leukemia
Kaduveettil G Gopakumar1, Priyakumari Thankamony, Sheela Nampoothiri
1Departments of *Pediatric Oncology §Imageology ∥Pathology, Regional Cancer Centre, Trivandrum †Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India ‡Department of Pediatrics Medical Genetics, Duke Health, Durham, NC.
Insights
Lysosomal acid lipase deficiency (LAL-D), also known as Wolman disease, can present with symptoms mimicking infant leukemia, such as hepatosplenomegaly and pallor. A novel LIPA gene deletion was identified in a patient diagnosed with Wolman disease.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infant leukemia commonly presents with pallor and hepatosplenomegaly.
- Accurate diagnosis is crucial for effective management of infant leukemia.
- Differential diagnoses must be considered for these clinical signs.
Observation:
- An infant presented with symptoms suggestive of leukemia.
- The infant was diagnosed with lysosomal acid lipase deficiency (LAL-D), also known as Wolman disease.
- A novel 5 bp deletion (c.1180_1184del) in the LIPA gene was identified.
Findings:
- Wolman disease can manifest with hepatosplenomegaly and pallor.
- These symptoms in Wolman disease can be mistaken for infant leukemia.
- Genetic analysis revealed a specific mutation in the LIPA gene.
Implications:
- Early diagnosis of LAL-D is essential to prevent severe complications.
- Genetic testing can aid in diagnosing LAL-D.
- Recognizing LAL-D as a differential diagnosis for infant leukemia improves patient outcomes.
Background:
Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management.
Observation:
An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c.1180_1184del" in the last exon (exon 10) of the lipase A (LIPA) gene.
Conclusions:
Hepatosplenomegaly and pallor resulting from nutritional deficiency or bone marrow involvement in Wolman disease can mimic infant leukemia.
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