Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child.
We report a case of a 12-year-old boy with history of myelofibrosis and retinopathy who developed sudden neurological deficits associated with coagulopathy, multiorgan failure, and death. A fluorescent in situ hybridization study revealed monosomy of chromosome 7 in 21% of the bone marrow cells in support of his diagnosis of myelofibrosis. Postmortem neuropathology examination revealed multiple coarse and microcalcifications and cerebral hemorrhages, explaining the patient's neurological deterioration. The findings of myelofibrosis, retinopathy, and cerebral calcifications indicate that this could be a case of a rare condition known as Revesz syndrome.
Negrón
Diana
D
Department of Pathology and Laboratory Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico.
Colón-Castillo
Lillian
L
Morales-Melecio
Ilia
I
Correa-Rivas
María
M
D001854:Bone Marrow Cells / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D002114:Calcinosis / Q000235:genetics / Q000473:pathology*; D002648:Child; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004247:DNA / Q000032:analysis; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009006:Monosomy / Q000235:genetics; D055728:Primary Myelofibrosis / Q000235:genetics / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology*; D013577:Syndrome
D004247:DNA