Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature.

BACKGROUND: Peripheral nerve system (PNS) involvement is common in Fabry's disease (FD), predominantly affecting the small nerve fibers that are difficult to investigate with conventional electrophysiological methods. PATIENTS AND METHODS: Eighteen patients followed for Fabry's disease underwent a prospective series of electroneurophysiological explorations, including a study of the cardiac parasympathetic autonomic nervous system (ANS) and electrochemical skin conductance (ESC) tests. Data were compared with those obtained in 18 matched healthy controls. RESULTS: All patients had at least one clinical sign suggestive of neuropathy: 16 reported an acrosyndrome and 12 had dyshidrosis. Cold hypoesthesia was found in 15 patients and heat hypoesthesia in 13. Electroneurophysiological investigations and study of the cardiac parasympathetic ANS were normal in all patients. The ESC was significantly lower in FD patients compared with controls. CONCLUSION: PNS involvement is common in FD and should be suspected in patients exhibiting an acrosyndrome, dyshidrosis and/or cold hypoesthesia. Conventional electrophysiological investigations are normal. New techniques, such as ESC, provide early diagnosis of small fiber involvement that currently requires more sophisticated tests difficult to apply in routine practice.

[Cerebral venous thrombosis: an unusual complication of acute cytomegalovirus infection]. / Thrombophlébite cérébrale: une complication rare de l'infection aiguë à cytomégalovirus.

INTRODUCTION: Acute cytomegalovirus (CMV) infection increases the risk of vascular thrombosis but reports of cerebral venous thrombosis are rare. CASE REPORT: We report a 36-year-old woman who presented with a cerebral venous thrombosis and acute CMV infection heralded by a cytolytic hepatitis. Heterozygous factor V Leiden mutation was also identified. The patient was treated with anticoagulation for 1 year with favourable outcome. CONCLUSION: Serologic tests for CMV infection should be performed in case of cerebral venous thrombosis with liver cytolysis or flu-like symptoms. CMV infection often triggers thrombosis in combination with other inherited or genetic predisposing risk factors that should always be searched.

[Value of neonatal screening for cystic fibrosis. Evaluation of a neonatal screening program including 34,522 neonates (author's transl)]. / Valeur du dépistage néonatal de la mucoviscidose. A propos d'une expérience de détection systématique chez 34,522 nouveau-nés.

Screening for cystic fibrosis in 34,522 neonates was done by assaying proteolytic activity in feces samples spread on special filter paper. Infants were considered at high risk for cystic fibrosis if proteolytic activity was significantly decreased and albumin was found in all the fresh stool specimens. Cystic fibrosis was detected in eight infants, most of whom were already hospitalized for respiratory and/or digestive manifestations suggestive of the disease. Six other patients, one of whom was three-and-a-half years-old, were detected after referral by pediatricians. Two false-negative results were recorded, in infants without detectable pancreatic involvement. Given these results, the authors believe that routine neonatal screening for cystic fibrosis is unnecessary. The various etiopathogenetic mechanisms and the possibilities for investigating patients with cystic fibrosis are discussed.