Search

Introduction: Pantothenate kinase deficiency (Hallervorden-Spatz syndrome, HSS) triggers cerebral neurodegeneration with iron deposition in the basal ganglia. The classical form has an early onset in infancy, a progressive course, the presence of extrapyramidal symptoms (dystonia, chorea, rigidity) and pigmentary retinitis. There are atypical late onset forms with predominance of symptoms of Parkinsonism and dementia, which progress slowly and course somewhat less progressively., Case Report: We describe three patients with HSS and an atypical presentation, with onset during the second decade of life. In all cases magnetic resonance imaging showed areas of hyposignal in T2 sequences in medial globus pallidus, with central hypersignal, which gave rise to a tiger's eye image. Other aetiologies, such as Wilson's disease, gangliosidosis GM1, hypoprebetalipoproteinemia, hexosaminidase A deficiency, aminoacidurias and infantile Huntingdon's chorea, were precluded. In the 20-year-old male the initial manifestations at the age of 17 were superposed over Gilles de la Tourette syndrome, with complex motor and vocal tics, palilalia, behavioural disorders and postural instability. The 13-year-old patient presented symptoms of chorea, hemiballic movements and dystonia in the lower limbs, which limited walking at the age of 12. The 28-year-old female patient presented a progressive rigid akinetic syndrome, with dementia and partial response to levodopa., Conclusions: The clinical spectrum of HSS is broad and its differential diagnosis must include hemiballism, Tourette syndrome and juvenile Parkinsonism. more...

Introduction: Decompression sickness (DS) is caused when bubbles of an inert gas usually nitrogen, since oxygen is metabolised in the tissues are released into the bloodstream and tissues during fast ascents once the atmospheric pressure is lowered near the surface. Neurological complications are its most serious form of expression and include vertigo, headache, stroke and acute myelopathy, among others. DS that affects the spinal cord is infrequent., Case Report: A male, 42 years old, who presented progressive tetraparesis 15 minutes after returning to the surface following several immersions up to 40 metres deep in the same day. Neurological exploration revealed tetraparesis that was predominantly distal and in the lower limbs, a posterior cord syndrome, urinary incontinence and neurogenic pain. Total column magnetic resonance imaging showed areas of diffused hypersignal in the T2 sequence in the thoracic and cervical (C2 to C6) regions, predominating in the posterior cords. The echocardiogram, transcranial Doppler and spirometric studies ruled out an arterial gas embolism following pulmonary barotrauma., Conclusions: Spinal DS can give rise to a serious myelopathy, which affects the pyramidal pathway, posterior cords and sphincteral control, and which generally appears after sudden ascents from the deep dives. more...

Introduction: As a chronic chagasic myocardiopathy, Chagas disease (CD) may give rise to cardiac insufficiency, arrhythmias, thromboembolism and stroke. Occlusive vascular disease of the rostral portion of the basilar artery or of its emergent branches may cause ischemia and necrosis in different areas of the midbrain, thalamic nuclei, cerebellum and occipital lobe., Case Reports: We describe four patients (three males and a female, the average age being 54 years) with positive chagasic serology (indirect immunofluorescence and hemagglutination) and suffering from CD and top of the basilar syndrome. All of them underwent tests to determine proteins C and S, antithrombin III, factor V Leiden, and lupic anticoagulant, as well as being submitted to explorations using electrocardiogram (ECG), echocardiogram, carotid and transcranial echo Doppler, computerised tomography (CAT) and magnetic resonance imaging (MRI)., Results: The coagulopathy studies were normal or negative in the four patients. We also describe the findings from the electrocardiograms (blockage in right branch, two cases; auricular fibrillation, one case; repolarization disorder, one case) and the echocardiograms (left ventricular dysfunction, two patients; apical aneurysm, one patient; mural thrombus, one patient). Neuroimaging revealed one case of each of the following infarctions: bilateral thalamic, bilateral cerebellar and occipital, cerebellar, thalamic mesencephalic and occipital, and thalamic mesencephalic and occipitotemporal., Conclusions: In a patient with positive chagasic serology, with or without findings in the ECG and in the electrocardiogram that can be put down to a cardioembolic source, a vascular syndrome produced by occlusion of the distal basilar artery suggest a cardioembolism. We recommend secondary anticoagulation because of the high risk of recurrence. more...

Introduction: Schwartz Jampel syndrome is a usually recessive disorder that presents myotonia, skeletal (bone dysplasia) and facial (blepharophimosis) anomalies and low height, which is diagnosed in childhood. We report on the clinical, electromyographical and radiological findings of two siblings affected by the disease and who were diagnosed late, in adulthood., Case Reports: Two siblings, a male aged 39 and a female of 49, the only members of a family of five siblings born to consanguineous parents to be affected, were studied because of deformities in the joints that appeared at the age of nine months and alterations in their gait. Both had a syndromic facies with hypertelorism, micrognathia, blepharospasm, thin mouth, saddle nose and low height. The sister presented lumbar hyperlordosis, dislocation of the kneecaps, clubfeet, fists with radial deviation, bilateral dislocation of the head of the radius and limited pronosupination and flexure tension of the elbow. Deep reflexes were diminished. The male had deformities in both knees and in the right elbow, and was unable to perform pronosupination of the arm or bend the knee. A coxofemoral X ray revealed an epiphysial dysplasia. The magnetoencephalogram showed continuous muscular activity with complex repetitive discharges in the sister s orbicularis oculi and biceps. The brother had a bilateral entrapment of the ulnar nerve in the ulnar canal with a secondary axonal compromise. Magnetic resonance imaging of the encephalon of the patient showed cortical atrophy, hyperintense focal areas in the periventricular white matter and platybasia., Conclusions: In the adult, myotonic chondrodystrophia evolves with decreased blepharospasm, the presence of structured deformities and entrapments of peripheral nerves. more...