Résumé
Spinal muscular atrophies (SMA) are clinically heterogenous group of motor system disorders characterised by progressive pure lower motor neuron involvement. The distal form of SMA is an extremely rare disorder, which presents in the adults and has a relatively slow progression with almost no effect on the patients' life-span. Differential diagnosis of this syndrome include other forms of neuromuscular disorders with peroneal muscular atrophy like hereditary motor sensory neuropathy (HMSN) and distal myopathies, which need exclusion before confirming this rare entity. We present a young male with this disorder and briefly discuss the theoretical aspects.
Sujets)
Adulte , Diagnostic différentiel , Évolution de la maladie , Humains , Mâle , Maladies du motoneurone/diagnostic , Amyotrophie spinale/diagnosticRésumé
A 65 years man presented with fever, drenching sweats, progressive dyspnoea, backache and weight loss. On examination, he had wide pulse pressure, clubbing, retinal hemorrhages, aortic and mitral regurgitation, hepatosplenomegaly, lower spinal tenderness and bilateral basal crepitations. Transthoracic 2D-echocardiography showed a large vegetation on the aortic valve. Antibody titers for brucella were positive. X-ray spine was suggestive of brucella spondylitis. Early surgical intervention was planned and the patient was given combination antibiotic therapy. The course was complicated by renal failure and the patient succumbed while being taken up for surgery.
Sujets)
Sujet âgé , Brucellose/complications , Issue fatale , Humains , MâleRésumé
A young lady who had aplastic anaemia presented for cerebral venous thrombosis after five years of follow up. She was diagnosed to have paroxysmal nocturnal haemoglobinuria. She had received immunosuppressive therapy with methylprednisolone, cyclosporine-A, anti-lymphocyte globulin, danazol and pregnenolone. The relation between aplastic anaemia, paroxysmal nocturnal haemoglobinuria and cerebral venous thrombosis is discussed. The role of immunosuppressive therapy for aplastic anaemia in causation of paroxysmal nocturnal haemoglobinuria is reviewed.
Sujets)
Adulte , Anémie aplasique/induit chimiquement , Femelle , Hémoglobinurie paroxystique/étiologie , Humains , Immunosuppresseurs/effets indésirables , Imagerie par résonance magnétique , Thrombose du sinus sagittal/diagnosticRésumé
Four hundred and sixty three patients with malignant diseases were studied over a period of two years; of these, 53 (11.44%) had neurological syndrome, both metastatic (32) and non metastatic (21). The lymphoma-leukaemia group accounted for 34 of the 53 cases. The maximum manifestations were seen in the 21-40 years age group, with male preponderance. The metastatic manifestations were as a result of cerebral (16), brainstem, cerebellar (12) and cord (4) deposits. These were confirmed by CT scan and myelogram. The non metastatic manifestations were peripheral neuropathies (7), leukoencephalopathy and intracranial haemorrhage (6 each), and myasthenic syndrome and myopathy (one each). These findings were confirmed by electrophysiological studies, CT scan, and histopathological examination. Autopsy studies were carried out in 12 of the 53 cases.