[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations]. / Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG.

INTRODUCTION: Sensory ataxia is a frequent symptom in numerous neurological pathologies, being a frequent clinical manifestation in diseases related to genes influencing mitochondrial metabolism, such as POLG. The aim is to describe the differential characteristics of four patients with pathogenic variants in the POLG gene with clinical expression in the form of adult-onset ataxia and sensory neuropathy. PATIENTS AND METHODS: We reviewed the clinical features of patients diagnosed with POLG pathogenic variants from a tertiary hospital. RESULTS: Three men and one woman (mean age: 40 years; 27-46) with no family history were studied with symptoms for 10 years. All patients developed a gait disturbance related to sensory ataxia. All patients had oculomotor abnormalities. The neurophysiological study showed a sensory axonal neuropathy. Brain magnetic resonance imaging studies showed atrophy and cerebellar white matter lesion and muscle magnetic resonance imaging showed fatty substitution in thigh and calf muscles without a specific pattern. A molecular study revealed pathogenic variants in the POLG gene. CONCLUSIONS: In cases of adult-onset sensory ataxia, the molecular analysis of the POLG gene should be considered, especially if associated with sensory neuropathy or ophthalmoparesis.

TITLE: Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG.Introducción. La ataxia sensitiva es un síntoma frecuente en numerosas patologías neurológicas con causas múltiples y es una manifestación clínica frecuente en enfermedades relacionadas con genes que influyen en el metabolismo mitocondrial, como POLG. El objetivo del presente trabajo es describir las características diferenciales de cuatro pacientes con variantes patógenas en el gen POLG y expresión clínica común en forma de ataxia y neuropatía sensitiva de inicio en la edad adulta. Pacientes y métodos. Se realizó una revisión de las características clínicas de los pacientes portadores de variantes patógenas en el gen POLG de una consulta de enfermedades neuromusculares en un hospital de tercer nivel. Resultados. Se estudió a tres varones y una mujer de edad adulta (edad media: 40 años; 27-46) sin antecedentes familiares reseñables, con una duración de los síntomas de en torno a 10 años. El síntoma que motivó la consulta fue una alteración de la marcha en relación con ataxia sensitiva. Todos los pacientes presentaban anomalías oculomotoras. El estudio neurofisiológico evidenció una neuropatía sensitiva de predominio axonal. La resonancia magnética cerebral mostró atrofia y lesión de la sustancia blanca cerebelosa. La resonancia magnética muscular mostró sustitución grasa en músculos de muslos y gemelos sin un patrón específico. Todos ellos fueron portadores (homocigotos o heterocigotos compuestos) de variantes patógenas en el gen POLG. Conclusiones. El análisis molecular del gen POLG es una posibilidad diagnóstica prioritaria que se debe considerar en casos de ataxia sensitiva de inicio en la edad adulta, especialmente si se asocia a neuropatía sensitiva u oftalmoparesia.

Mielopatía cervical como forma de presentación de la enfermedad de Whipple / Cervical myelopathy as a form of presentation of Whipple disease

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Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Diabetes mellitus mal controlada como desencadenante de un caso de enfermedad de Marchiafava-Bignami / Marchiafava-Bignami disease triggered by poorly controlled diabetes mellitus

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[Diagnosis of Parkinson's disease]. / Diagnóstico de la enfermedad de Parkinson.

INTRODUCTION AND DEVELOPMENT: The diagnosis of Parkinson's disease is one of the current challenges in the neurology. The development of imaging techniques (volumetric and diffusion-weighted magnetic resonance imaging and ultrasonography), and functional neuroimaging (single photon emission computed tomography and positron emission tomography) in recent years has opened new research fields, and are useful as diagnostic tools. CONCLUSION: Anyway the diagnosis is still a clinical process, and it should be reconsidered at each visit.

[Treatment of motor symptoms in Parkinson's disease]. / Tratamiento de los síntomas motores en la enfermedad de Parkinson.

INTRODUCTION: The physiopathology of the motor symptoms is the best known aspect of the Parkinson's disease. This knowledge led us to use several drugs and therapeutic strategies to improve these features of the Parkinson's disease. DEVELOPMENT AND CONCLUSIONS: Mainly based in the theory of continuous dopaminergic stimulation, new drugs, new routes of administration and new galenic formulations have been developed, as well surgical procedures and other therapies have been introduced to improve the management of patients with long diseases without a responses to the classic therapies. At the same time, several often-used drugs have disappeared due to its non-parkinsonian adverse effects and also the influence in quality of life of non-motor parkinsonian adverse effects have been ultimately recognized.

[Painful ophthalmoplegia secondary to larynx carcinoma]. / Oftalmoplejía dolorosa secundaria a carcinoma de laringe.

CASE REPORT: We present a case of metastatic larynx cancer in the cavernous sinus. It presented itself as a right sixth cranial nerve palsy which progressed into a painful ophthalmoplegia with normal CT and RNM in its early stages. DISCUSSION: We must suspect a cavernous sinus invasion in patients with cranial nerve palsies and with a history of malignancy, despite negative radiologic findings. Tumoral invasion of the skull base has been described in pharyngeal neoplasms but it is exceptional in larynx carcinomas.