RESUMO
Neuroleukemiosis describes peripheral nerve involvement secondary to leukemic infiltration, a rare complication of leukemia with various clinical presentations, leading to diagnostic challenges for hematologists and neurologists. We present two cases of painless progressive mononeuritis multiplex secondary to neuroleukemiosis. A literature review of previously reported cases of neuroleukemiosis was undertaken. Neuroleukemiosis may present as a progressive mononeuritis multiplex. The diagnosis of neuroleukemiosis requires a high index of suspicion and be aided by repeated CSF analysis.
Assuntos
Leucemia Mieloide Aguda , Mononeuropatias , Humanos , Mononeuropatias/complicações , Mononeuropatias/diagnóstico , Nervos Periféricos , Infiltração Leucêmica/complicações , Leucemia Mieloide Aguda/complicaçõesRESUMO
The development of targeted next-generation sequencing (NGS) applications now promises to be a clinically viable option for the diagnosis of rare disorders. This approach is proving to have significant utility where standardized testing has failed to identify the underlying molecular basis of disease. We have developed a unique targeted NGS panel for the systematic sequence-based analysis of atypical iron disorders. We report the analysis of 39 genes associated with iron regulation in eight cases of atypical iron dysregulation, in which five cases we identified the definitive causative mutation, and a possible causative mutation in a sixth. We further provide a molecular and cellular characterization study of one of these mutations (TFR2, p.I529N) in a familial case as proof of principle. Cellular analysis of the mutant protein indicates that this amino acid substitution affects the localization of the protein, which results in its retention in the endoplasmic reticulum and thus failure to function at the cell surface. Our unique NGS panel presents a rapid and cost-efficient approach to identify the underlying genetic cause in cases of atypical iron homeostasis disorders.
