Subject(s)
Embolism, Air , Device Removal/adverse effects , Embolism, Air/diagnosis , Embolism, Air/etiology , Humans , Intracranial Pressure , Skull , VeinsABSTRACT
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.
Subject(s)
Fabry Disease/complications , Peripheral Nerves/physiopathology , Peripheral Nervous System Diseases/complications , Peripheral Nervous System Diseases/diagnosis , Adult , Aged , Case-Control Studies , Diagnostic Techniques, Neurological , Electrophysiological Phenomena , Fabry Disease/diagnosis , Fabry Disease/physiopathology , Humans , Male , Middle Aged , Young AdultABSTRACT
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.
Subject(s)
Cytomegalovirus Infections/complications , Cytomegalovirus Infections/diagnosis , Intracranial Thrombosis/diagnosis , Intracranial Thrombosis/virology , Acute Disease , Adult , Cerebral Veins , Cytomegalovirus Infections/genetics , Factor V/genetics , Female , Humans , Intracranial Thrombosis/genetics , Mutation , Venous Thrombosis/diagnosis , Venous Thrombosis/genetics , Venous Thrombosis/virologyABSTRACT
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.
