Asunto(s)
Mitoxantrona/efectos adversos , Esclerosis Múltiple/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/inducido químicamente , Leucemia-Linfoma Linfoblástico de Células Precursoras/fisiopatología , Adulto , Antineoplásicos/administración & dosificación , Antineoplásicos/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Encéfalo/efectos de los fármacos , Encéfalo/patología , Encéfalo/fisiopatología , Femenino , Humanos , Interferón Tipo I/uso terapéutico , Imagen por Resonancia Magnética , Mitoxantrona/administración & dosificación , Bandas Oligoclonales/líquido cefalorraquídeo , Leucemia-Linfoma Linfoblástico de Células Precursoras/inmunología , Inducción de Remisión , Resultado del TratamientoRESUMEN
BACKGROUND: Familial hemiplegic migraine (FHM) is an unusual migraine syndrome characterised by recurrent transient attacks of unilateral weakness or paralysis as part of the migraine aura. Genetically and clinically heterogeneous, FHM1 is caused by mutations in CACNA1A and FHM2 by mutations in ATP1A2. AIM: Three children with prolonged hemiplegia were tested for mutations in CACNA1A or ATP1A2. METHODS: Mutations in CACNA1A and ATP1A2 were screened for by denaturing high performance liquid chromatography and confirmed by sequencing. Expression studies were performed to characterise the functional consequences of these mutations. RESULTS: No mutation was found in the FHM1 gene while three mutations were identified in the FHM2 gene. All three mutations were missense: two were novel and one was de novo; none was found in controls. Functional studies in HeLa cells showed complete loss of mutant pump function without interfering with the wild-type pump, consistent with haploinsufficiency. CONCLUSION: We identified novel disease causing mutations in the FHM2 gene. Genetic screening for FHM should be considered in a child with prolonged hemiplegia even if there is no prior history or family history of migraine or hemiplegic episodes.
Asunto(s)
Migraña con Aura/genética , Mutación Missense , ATPasa Intercambiadora de Sodio-Potasio/genética , Niño , Análisis Mutacional de ADN , Femenino , Pruebas Genéticas , Humanos , MasculinoRESUMEN
Rabbit antithymocyte globulin (RATG) is indicated for the treatment of acute renal transplant rejection and has also been shown to be effective as an induction immunosuppressive agent after renal transplantation. We report a patient that developed a painful sensory neuropathy within an hour of receiving RATG. The neuropathic symptoms resolved within a month, and a careful review of his medications, exposures and comorbid conditions revealed no other causes of neuropathy. Since the administration of RATG and onset of symptoms were so closely related temporally and the symptoms resolved after the cessation of RATG, we believe it is likely this medication led to the development of neuropathy.