title: Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child.
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico.
authors.forename: Diana
authors.initials: D
authors.lastname: Negrón
authors.forename: Lillian
authors.initials: L
authors.lastname: Colón-Castillo
authors.forename: Ilia
authors.initials: I
authors.lastname: Morales-Melecio
authors.forename: María
authors.initials: M
authors.lastname: Correa-Rivas
mesh_terms: 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
chemical_list: D004247:DNA