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Joseph Junewick, MD FACR
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Fanconi Anemia

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 5 years ago
Updated: over 5 years ago
Tags: PEDS
Modality/Study Types: CT
Activities:
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History

10 year old female with Fanconi anemia and headache.


Case Images


Diagnosis

Fanconi Anemia

Clinical Notes

Bone marrow transplantation several years ago.

Findings

CT – Multiple intracranial calcifications mainly junctional but also in deep gray and white matter tracts.

Discussion

Fanconi anaemia is an autosomal recessive disease characterised by congenital abnormalities, defective hematopoiesis, and a high risk of developing acute myeloid leukemia and certain solid tumors. Underlying defect is related to chromosomal fragility and defective DNA repair. Brain calcifications are seen in about 1% of CT examinations and often associated with hypoparathyroidism, pseudohypoparathyroidism, trisomy 21, mitochondrial defects, neurodegenerative disease, some tumors, infections, or bone marrow failure syndromes (such as Fanconi anemia, Revesz syndrome and other myelodysplastic diseases). A suggested explanation of intracranial calcifications in bone marrow failure syndromes is bleeding with subsequent dystrophic calcification related to altered blood cell morphology (inducing endothelial damage) and abnormal blood cell number (predisposing to bleeding).

Reference

Negron D, Colon-Castillo L, Morales-Melecio I, et al. Association of extensive brain calcifications, myleofibrosis, and retinopathy in a 12 year old child. Ped Dev Pathol (2008); 11:148-151.



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