[Type 2 Charcot-Marie-Tooth disease?]. / Enfermedad de Charcot-Marie-Tooth tipo 2.

INTRODUCTION AND DEVELOPMENT: Type 2 Charcot-Marie-Tooth disease (CMTD-2) is of similar prevalence to CMTD-1. The age of onset is very variable (ranging between the second and seventh decades). It is impossible to clinically differentiate CMTD-1 from type 2, but for equivalent degrees of muscle weakness, amyotrophia is more marked in the latter. The speed of motor and sensory nerve conduction are normal or minimally slower (> or = 38 m/s) and accompanied by a fall in the nerve potentials of the lower limbs, but not always in the upper limbs. These electrophysiological anomalies do not occur early and therefore do not permit rapid, presymptomatic diagnosis of carriers at risk. The histopathological changes are compatible with primary atrophy of the motor neurons of the anterior horns and of the sensory neurons of the ganglia of the posterior roots, with secondary degeneration of the distal axons of the peripheral nerves. Autosomal dominant transmission is the main mode of inheritance, but only a minority of families have genetic loci situated on chromosomes 1, 3 and 7. CONCLUSION: The first step in rapid molecular diagnosis and genetic treatment is to identify the genes situated in the currently known loci and discover new loci.

Enfermedad de charcot-marie-tooth tipo 2 / Type 2 charcot-marie-tooth disease

Introducción y desarrollo. La enfermedad de CharcotMarie-Tooth tipo 2 (ECMT 2) tiene una prevalencia similar a la de ECMT 1. El intervalo de edades de comienzo de la ECMT 2 es muy variable (entre la segunda y la séptima década). Clínicamente es imposible diferenciar la ECMT 1 de la de tipo 2, pero para un grado equivalente de debilidad muscular, la amiotrofia es más marcada en la segunda. Las velocidades de conducción nerviosa motora y sensitiva son normales o mínimamente enlentecidas ( 38 m/s) y se acompañan de la caída en la amplitud de los potenciales nerviosos en los miembros inferiores, y no siempre así en los superiores. Estas anomalías electrofisiológicas no son precoces y, por lo tanto, no permiten un rápido diagnóstico presintomático de los portadores en riesgo. Las alteraciones histopatológicas son compatibles con atrofia primaria de las neuronas motoras de las astas anteriores y de las neuronas sensitivas de los ganglios de las raíces posteriores, con degeneración secundaria de los axones distales de los nervios periféricos. La transmisión autosómica dominante es el modo principal de herencia, pero sólo una minoría de familias se han ligado a loci genéticos situados en los cromosomas 1, 3 y 7. Conclusión. Como paso previo para un rápido diagnóstico molecular y terapia génica, es necesario identificar los genes situados en los loci hasta ahora conocidos y descubrir otros nuevos (AU)

[Fibromuscular dysplasia of the cervicocephalic arteries. Report of two cases and review of the literature (author's transl)]. / Displasia fibromuscular de arterias cérvico-cefálicas. Presentación de dos casos y revisión de la literatura.

Two typical cases of fibromuscular dysplasia of the cervicocephalic arteries in two women of 61 and 48 years of age are reported. The angiograms revealed bilateral affectation of the internal carotid artery and of the right vertebral artery in one case, and of both vertebral and renal arteries in the other. The patients presented neurological symptoms corresponding to ischemia of the vertebro-basilar territory. The first case was treated with anti-platelet aggregates with positive results. An extensive review of 70 similar published cases is presented. Several characteristics are studied such as: age, sex, localization, symptoms, clinical course and treatment. The quantitative evaluation of these factors agrees with those of other reviews carried out by some other authors. Fibromuscular dysplasia is an arteriopathy of unknown etiology which has a predominant incidence among middle age females (83 percent approximately). The disease usually involves the renal arteries and the cervical segment (adjacent to C1-C2 interspace) of the carotid arteries. There was an association with single or multiple intracranial aneurisms in 22.86 percent of the cases. Vertebral arteries were affected in 28.57 percent of the cases, although vertebral angiograms were not performed in 35.7 percent of them. Transient episodes of cerebral ischemia is the most frequent clinical manifestation (42.85 percent of the cases.).

[Jadassohn's nevus sebaceus and nevus unius lateris. Report of an observation with multiple dysplasia (author's transl)]. / Nevus sebáceo de Jadassohn y nevus unius lateris: a propósito de una observación con manifestaciones displásicas múltiples.

The case of a female patient with multiple ectodermal and mesodermal malformations present since birth is reported. The cutaneous lesions were of two types: Jadassohn's nevus sebaceus and nevus unius lateris. These entities have been described in the literature as congenital dermatologic alterations of nevoid character and organoid structure. They can be considered as congenital epidermal nevi. In many cases, including this one, there are various associated disorders especially of the nervous system, eyes, and skeleton. Both syndromes are cutaneous hamartomas which can be differentiated histologically but not by the anomalies accompanying them. Their dermatologic aspects are very similar. The histopathologic characteristics of the skin lesions of nevus unius lateris consist of hyperkeratosis, acanthosis, and epidermal papillomatosis. In Jadassohn's nevus sebaceus there are also alterations of the skin adnexa, namely the absence of hair follicles and the presence of numerous mature sebaceus and hyperplastic glands. In general, the presence of organoid nevus may be a sign of multiple ectodermal and mesodermal malformations. Both syndromes are often present in the same patient, as in the case described here, and their etiology is the same. It is based on an alteration in embryogenic development affecting primarily, though not exclusively, the formations of ectodermal origin. Thus Jadassohn's nevus sebaceus and nevus unius lateris are both forms of phacomatosis. Clinical cases have in common the cutaneous cited above, either in combination or singly. The other possible signs and symptoms are variable, depending on which stage of embryogenic development is affected. There may be defects in the structures of both ectodermal and mesodermal origin.