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PURPOSE: To examine the link between tremor and sex chromosome abnormalities, emphasizing the necessity of comprehensive physical examination. CASE DESCRIPTION: An 18-year-old man exhibited an isolated action tremor in both hands. Despite having no familial history of tremors and no identifiable secondary causes, his tall stature and learning difficulties suggested a genetic origin. His karyotype confirmed the diagnosis of Jacob's syndrome (XYY syndrome). Therapies with primidone and propranolol were ineffective for his tremor. CONCLUSIONS: Tremor can be caused by various conditions, and aneuploidies might often be overlooked as a cause. They should be considered in young patients with concrete phenotypes and negative familiar history of tremors. Karyotyping is a cost-effective diagnostic tool crucial for genetic counselling. Common treatments for tremors often yield unsatisfactory results in these cases.
RESUMO
Introducción: Desde la introducción de los criterios genéticos y moleculares en la clasificación de la Organización Mundial de la Salud (OMS) de tumores cerebrales de 2016, se ha producido una reclasificación diagnóstica entre determinados astrocitomas y oligodendrogliomas con discordancias histológicas y genéticas, cuyo pronóstico se desconoce. Objetivo: Analizar las implicaciones de la reclasificación diagnóstica de los gliomas cerebrales según los criterios de la OMS de 2016, especialmente según la mutación de la isocitrato deshidrogenasa (IDH) y la codeleción 1p19q. Pacientes y métodos. Estudio retrospectivo de los gliomas tratados desde el 1 de enero de 2012 hasta el 31 de diciembre de 2016, con análisis de los aspectos clinicorradiológicos y pronósticos, y con seguimiento disponible y completo hasta el 31 de marzo de 2019. Resultados: De 147 gliomas cerebrales, en 69 (astrocitomas u oligodendrogliomas de grados II-IV) se realizaron un diagnóstico molecular y una reevaluación diagnóstica. Se detectaron 24 gliomas reclasificados, habitualmente oligodendrogliomas que pasaron a astrocitomas, y que mostraron mayores supervivencias, derivadas de la no reclasificación en grado IV. Los gliomas reclasificados, todos de grados II/III, comenzaron mayoritariamente con crisis, sin focalidad, con lesiones únicas, <17 cm3 y con edema, aunque con similar supervivencia. Los factores pronósticos fueron: edad joven, focalidad, grado II y no captación de contraste o necrosis, o multiplicidad. No se detectaron variaciones según el patrón molecular con mutación en la IDH o codeleción. Conclusión: Los cambios diagnósticos tras la clasificación de la OMS de 2016 presentan características clinicorradiológicas específicas en esta serie, aunque no mayores supervivencias, si bien, por la supervivencia habitual en estos casos, precisarían un mayor tiempo de seguimiento
Introduction: Since the introduction of genetic and molecular criteria in the 2016 World Health Organization (WHO) classification of brain tumours, there has been a diagnostic reclassification between certain astrocytomas and oligodendrogliomas with histological and genetic discordances, the prognosis of which is unknown. Aim: To analyse the implications of the diagnostic reclassification of brain gliomas according to the 2016 WHO criteria, especially depending on isocitrate dehydrogenase (IDH) mutation and 1p19q codeletion. Patients and methods: We conducted a retrospective study of gliomas treated from 1 January 2012 to 31 December 2016, with analyses of clinicoradiological aspects and prognoses, and with available and complete follow-up until 31 March 2019. Results: From a total of 147 brain gliomas, a molecular diagnosis and a diagnostic re-evaluation were carried out in 69 cases (grade II-IV astrocytomas or oligodendrogliomas). Twenty-four reclassified gliomas were detected, usually oligodendrogliomas that became astrocytomas, and which showed greater survival, derived from their not being classified as grade IV. The reclassified gliomas, all grades II/III, mostly began with seizures, without focus, with single lesions, <17 cm3 and with oedema, although with similar survival rates. The prognostic factors were: young age, focus, grade II and no contrast enhancement or necrosis, or multiplicity. No variations were detected according to the molecular pattern with IDH mutation or codeletion. Conclusion: The changes in diagnosis after the WHO classification of 2016 present specific clinical-radiological characteristics in this series, but no greater survival, although, due to the habitual survival in these cases, they would require a longer follow-up time
