Clinical and pathologic findings in six autopsies and five biopsies of cerebral amyloid angiopathy associated with cerebromeningeal hemorrhages are presented. One patient had experienced a previous meningeal hemorrhage. Only two had chronic hypertension; the multiple fresh hematomas found in all the autopsied brains always spared the basal ganglia and brainstem, as did vascular lesions, which were mostly cortical and meningeal. Extensive lesions of Alzheimer's disease were found in the autopsied cases with dementia. The most significant feature for clinical diagnosis of hemorrhagic cerebral amyloid angiopathy is the presence of multiple hemorrhages in unusual locations in the absence of hypertension.
In patients complaining of muscle cramps and exertional myalgia, we found a significant decrease of type 1 muscle fiber proportion in comparison with a control group. The possible mechanism of this change is discussed.
A 32-year-old patient had marked reduction of visual acuity due to falciform folds of the retina and retinal detachment, and severe neurological abnormality: bilateral pyramidal involvement, fasciculation in all limbs and gait ataxia. Skull radiographs showed internal frontal hyperostosis; CT scan showed calcification of the falx cerebri, and multiple arachnoid cysts were shown by myelography. A naevoid lesion had previously been removed from the left forearm. There was a history of ophthalmological symptoms in the mother and the daughter of the propositus. His son has "café au lait" spot on the abdomen and dentigerous cysts. The diagnosis of an adult form of basal cell naevus syndrome with an autosomal dominant mode of inheritance is discussed.
Neurological, ophthalmological and genetic investigations were performed on a family, a member of which presented with a rare association of tapeto-retinal degeneration, protanopia and Charcot-Marie-Tooth disease (CMT), and asked for genetic counseling. The neurological enquiry was completed by measurement of motor nerve conduction velocity in several completed by measurement of motor nerve conduction velocity in several members of the family. The propositus was submitted to a muscle biopsy. The ophthalmological examination included ophthalmoscopy, fluorescein angiography, electroretinogram and electrooculogram. The propositus, a woman aged 40, had typical CMT disease and her father also had a mild form of it. She had protanopia as had her father, her son and her nephew. In addition she had large macular pigmented changes, described as retinal dystrophy, "flavus flavimaculatus." Her mother had only senile pigmented modification of the fundus and her three daughters had mild macular pigmented changes, like "salt and pepper." Two genes are probably involved: one for protanopia with X linked recessive inheritance, the other responsible of CMT and tapeto-retinal degeneration, with an autosomal dominant inheritance, giving a 50% risk of recurrence.
A white maie patient 38 years old has contracted leprosy in Africa. After several years of incubation, dermatological manifestations occured (erythemato-squamous patches mainly located on the trunk) together with neurological signs (distal anesthesia of lower limbs going up to the thighs and localized zone of thermoanalgesia around the right forearm). Histological and immunological findings enabled to classify the disease within the « border-Une » group, with a lepromatous tendency. A review of récent data concerning leprous neuritis emphasizes its close relationship with the immunological response of the host. The therapeutic prescriptions resulting from this relationship are described.
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