[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. / Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients.

Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families.

[Meningeal hemorrhage at a neurological intensive care unit. Study of a series of 234 unselected cases]. / Les hémorragies méningées dans un service de réanimation neurologique. Etude d'une série de 234 cas non sélectionnés.

In a 6-year-period, 234 cases of subarachnoid haemorrhage were observed in a neurological intensive care unit: 74 were male and 69 were female, aged from 15 to 94 years. In 15 cases no other investigation than C.T. scan or lumbar puncture was performed. In 143 patients, cerebral angiography demonstrated a ruptured aneurysm of cerebral vessels and 99 were operated. The prognosis was poor in old age, with aneurysms located on the anterior part of the circle of Willis, severe neurological involvement and extensive subarachnoid or ventricular haemorrhage. A recurrence of the haemorrhage occurred in 18 cases and cerebral ischaemia was present in 69 patients. The mortality rate of patients with ruptured aneurysms was 47.5 p. 100 (30.4 p. 100 when operated). Seventeen patients probably had a ruptured cerebral aneurysm but cerebral angiography was not conclusive; 12 of them died. In 15 other cases, the haemorrhage was related to cerebral angiomas (3 cases), endocarditis (2), coagulation disorders (6), cranial trauma (3) and Moya-Moya disease (1). In 44 patients, the aetiology of subarachnoid haemorrhage was unknown and the mortality rate was 14 p. 100. The poor prognosis of subarachnoid haemorrhage, worse than in neurosurgical series, is emphasized. It may be explained by the lack of selection of the patients in a non-surgical department.

Double-blind placebo-controlled study with topical 2% ketanserin ointment in the treatment of venous ulcers.

Previous animal and human data have shown that ketanserin, the first specific serotonin2 antagonist, may have beneficial effects on peripheral vascular diseases and on the healing of ulcers. In this double-blind study a 2% ketanserin ointment in a polyethylene glycol base was used to treat 23 patients with venous ulcers (13 ketanserin, 10 placebo). Classical wound care measures were maintained in both groups; therefore, conventional ulcer therapy (with placebo in a polyethylene glycol base) was in reality compared with conventional ulcer treatment plus ketanserin. The most important parameter for evaluation in this study was the development of granulation tissue (first sign of successful wound healing). The evolution of granulation was significantly better with ketanserin than with placebo (p less than 0.05, Mann-Whitney U test). According to the investigator's evaluation, ketanserin showed a response in 10 out of 11 patients as opposed to 5 out of 10 placebo patients at the end of the study. This first double-blind placebo-controlled study suggests that topically applied ketanserin promotes the healing of venous ulcers.