RESUMO
Bilateral, simultaneous optic nerve sheath infiltration as a manifestation of leukemia relapse is very rare. A 45-year-old woman with chronic myelogenous leukemia was successfully treated to cytogenetic bone marrow remission 1 year previously and maintained on imatinib. She developed total bilateral blindness with marked, bilateral optic disc edema and evidence of bilateral optic nerve infiltration on magnetic resonance imaging. Cerebrospinal fluid cytology confirmed central nervous system (CNS) blast crisis. She recovered visual acuity of 20/20 in the right eye, and 20/25 in the left eye with salvage systemic and intrathecal chemotherapy before radiation therapy. Our report underscores the importance of timely and aggressive intervention of blast crisis of the CNS and the need for CNS penetrating induction and maintenance therapy.
Assuntos
Crise Blástica/patologia , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Infiltração Leucêmica/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias do Nervo Óptico/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Crise Blástica/tratamento farmacológico , Crise Blástica/genética , Feminino , Genes abl/genética , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Infiltração Leucêmica/tratamento farmacológico , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/genética , Neoplasias do Nervo Óptico/tratamento farmacológico , Neoplasias do Nervo Óptico/genética , Reação em Cadeia da Polimerase em Tempo Real , Terapia de Salvação , Tomografia de Coerência ÓpticaRESUMO
Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade myopia, deafness and low molecular weight proteinuria. The disorder results from mutations in the low density lipoprotein receptor-related protein 2 gene LRP2 that maps to chromosome 2q31.1. LRP2 encodes megalin, a multi-ligand endocytic receptor. Herein, we describe the clinical presentation of 4 patients from 2 unrelated Saudi families. Two novel LRP2 mutations, a homozygous nonsense mutation (c.4968C>G; p.Tyr1656*) and a missense mutation (c.12062G>A; p.Cys4021Tyr), were detected in the first and second family respectively. Interestingly, intrafamilial phenotypic variability was observed in one family, while DBS features were atypical in the second family. Differential diagnosis of DBS includes several syndromes associating hypertelorism with high grade myopia, and several syndromal forms of CDH, which are briefly summarized in this study.
