[TK2 mutations and late onset myopathy: first description in a Mexican patient]. / Mutacion del gen TK2 y miopatia de inicio tardio: descripcion del primer caso mexicano.

TITLE: Mutacion del gen TK2 y miopatia de inicio tardio: descripcion del primer caso mexicano.

[Chronic inflammatory demyelinating polyradiculoneuropathy. 10 years' experience in a Mexican centre]. / Polirradiculoneuropatía crónica inflamatoria desmielinizante. Experiencia de 10 años en un centro mexicano.

INTRODUCTION: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic, but potentially treatable, acquired autoimmune neuropathy. A review of the literature shows that few studies have been conducted on its epidemiology, presenting symptoms and long-term functional prognosis. AIM: To describe the clinical and neurophysiological forms of patients with CIDP at the outset and their follow-up at one year. PATIENTS AND METHODS: We conducted a descriptive, retrospective study of patients who were hospitalised in our unit between 1995 and 2005. The cases were defined in accordance with Inflammatory Neuropathy Cause and Treatment (INCAT) group criteria. Data gathered included demographic characteristics, forms of clinical presentation, neurophysiological findings, cerebrospinal fluid and functional prognosis at one year. A statistical descriptive analysis was performed. RESULTS: The sample consisted of 26 patients--12 males (46.15%) and 14 females (53.84%)--between 15 and 71 years of age (40.17 +/- 15.7 years). CIDP was associated with other autoimmune diseases in 20.8% of the patients. The predominant features at the outset of the disease were paresis and distal symmetrical paresthesias in the four limbs, high protein levels in cerebrospinal fluid and demyelination with axonal degeneration. Prednisone was administered in 43% of the cases. At one year, five patients remained asymptomatic (22.72%), there was a partial improvement in 13 (59.09%) and no improvement was seen in four cases (18.18%). CONCLUSIONS: The most frequent initial form of clinical presentation of CIDP in our population is quadriparesis and distal symmetrical paresthesias, high protein levels in cerebrospinal fluid and demyelination with axonal degeneration, which are related to a good functional prognosis at one year.

[Brachial diplegia as a variant of amyotrophic lateral sclerosis (Vulpian-Bernhart syndrome): the first case reported in Mexico and a review of the literature]. / Diplejía braquial como variante de esclerosis lateral amiotrófica(síndrome de Vulpian-Bernhart): descripción del primer casomexicano y revisión de la bibliografía.

INTRODUCTION: Brachial diplegia refers to an atypical clinical variant of amyotrophic lateral sclerosis (ALS), which is defined as a lower motor neuron disease in the upper limbs, with no significant functional complications in other regions. CASE REPORT: A 65-year-old female who presented a clinical picture of brachial diplegia that slowly progressed over a period of 72 months. Neurophysiology studies revealed a chronic denervation process. Throughout a follow-up lasting one year the clinical course remained stable. CONCLUSIONS: Brachial diplegia in females is a rare form of presentation of ALS and they probably have a higher survival rate than males.