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Leukodystrophy with anemia can be seen in certain inherited metabolic or genetic disorders where both white matter abnormalities (leukodystrophy) and defective red blood cell production or function (anemia) occur together. A few notable causes include:
1. Krabbe Disease (Globoid Cell Leukodystrophy)
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Cause: Mutation in the GALC gene → deficiency of galactocerebrosidase.
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Anemia Link: Can show mild anemia; macrophages with globoid cells may affect bone marrow.
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Presentation: Neurological decline, spasticity, optic atrophy.
2. Menkes Disease (Kinky Hair Disease)
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Cause: Mutation in ATP7A gene → impaired copper transport.
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Anemia Link: Can have hypochromic anemia due to copper-dependent enzyme deficiency.
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Presentation: Leukodystrophy, seizures, failure to thrive, peculiar hair.
3. Pelizaeus–Merzbacher Disease
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Cause: Mutation in PLP1 gene → abnormal myelin formation.
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Anemia Link: Rarely associated, but some variants may have bone marrow involvement.
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Presentation: Nystagmus, hypotonia, ataxia.
4. Canavan Disease
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Cause: ASPA gene mutation → buildup of N-acetylaspartic acid.
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Anemia Link: May have macrocytic anemia in rare presentations.
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Presentation: Developmental delay, macrocephaly, white matter disease.
5. Mitochondrial Leukodystrophies (e.g., Pearson Syndrome)
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Cause: mtDNA deletions → combined mitochondrial dysfunction.
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Anemia Link: Sideroblastic anemia or pancytopenia due to bone marrow failure.
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Presentation: Failure to thrive, pancreatic insufficiency, lactic acidosis.
If a patient has both leukodystrophy and anemia, especially from infancy or early childhood, mitochondrial disorders or certain lysosomal storage diseases (like Krabbe) should be high on the differential.
Would you like a table summarizing these disorders with gene, inheritance pattern, and typical lab findings?
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