[Autoimmune autonomic ganglionopathy: a case series of six patients and literature review]. / Ganglionopathie autonomique auto-immune : une série de six observations et revue de la littérature.

PURPOSE: Auto-immune autonomic ganglionopathy is a recently described clinical entity within the spectrum of autonomic neuropathies. Patients with auto-immune autonomic ganglionopathy typically present with rapid onset of severe autonomic failure. Acetylcholine receptor ganglionic antibodies, directed against ganglionic synapsis, disrupt synaptic transmission in autonomic ganglia and lead to autonomic failure. These antibodies are specific for auto-immune autonomic ganglionopathy and are present in 50% of patients. METHODS: Descriptive retrospective study. We report six French patients who presented with auto-immune autonomic ganglionopathy diagnosed between 1996 and 2002. RESULTS: Four patients were men and the median age at diagnosis was 45 years. All patients presented with a subacute autonomic failure with constant severe orthostatic hypotension. Serological testing of acetylcholine receptor ganglionic antibodies was performed in four out of the six patients and was found positive in three. All the patients received intravenous immunoglobulin and a clinical improvement was observed in four of them. CONCLUSION: Auto-immune autonomic ganglionopathy is an unusual and overlooked disorder. However, this autonomic neuropathy deserves to be better known as most of the patients respond to immunomodulatory therapy.

Phenotype and genotype of French cystic fibrosis patients with long survival and follow-up.

Background: The aim of this study was to assess the clinical features and the genotype characteristics of French patients diagnosed with cystic fibrosis (CF) before their fifth year and who were still alive after 30 years. It is the first descriptive study of 114 CF patients with long survival and follow-up. We compared this subgroup of French CF patients with the overall French CF population and with French adult (> 18 years) CF patients regardless of their age at diagnosis. Methods: Data were obtained from the French CF registry. Results: The 67 men and 47 women studied were 30-59 years old. Some 56% of the patients had DeltaF508 homozygous genotype, 90% had a pancreatic insufficiency, and 81% were colonized with Pseudomonas aeruginosa. The mean body mass index (BMI) was 19.5 for both female and male patients. Mean forced expiratory volume in 1 s was 46% (S.D. 29.2) of the predicted value for men and 53% (S.D. 20.6) for women. Eleven patients underwent a lung transplantation. Conclusions: The data on the patients with long survival and long follow-up were very similar to the data of the overall CF adult population in terms of clinical status. Therefore, criteria such as DeltaF508 homozygous genotype, pancreatic insufficiency, and P. aeruginosa colonization are not sufficient to serve as prognostic criteria for life expectancy in CF patients.

Mucosal ulcerations revealing primitive hypereosinophilic syndrome.

We report the case of a 27 year-old man developing recurrent oral aphtosis associated with fever and 8 kg of weight loss. Moderate splenomegaly was observed on physical examination and neurological and cardiac examination were normal. Laboratory findings included marked eosinophilia at 3280 giga/l. Bone marrow (BM) examination revealed a myeloproliferative syndrome with mature eosinophils. Splenectomy was performed because of a suspected nodule on the BM, the histopathology revealed a myeloid metaplasia. The diagnosis of myeloproliferative form of hypereosinophilic syndrome (HES) was made. He was treated with interferon-alfa and hydroxyurea. After two years of treatment he had no ulcer recurrence and eosinophil count was at 180 giga/l. Mucosal manifestations as a prodromal symptom of HES are rare. The histology of the lesions shows numerous eosinophils; immunohistochemical analysis confirms the presence of eosinophil peroxydase, major basic protein and eosinophil derived neurotoxin. A few cases have been described. Death occurs 11 months to 5 years after the diagnosis of oral ulcerations. The treatment consists of interferon-alfa and hydroxyurea.