Résumé
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.
A ataxia espástica autossômica recessiva de Charlevoix-Saguenay (ARSACS) é doença degenerativa do sistema nervoso, caracterizada por ataxia associada a espasticidade, entre outras manifestações neurológicas, de início na infância. A doença tem alta prevalência na região de Quebec, no Canadá. Muitos relatos de ARSACS têm sido descritos fora do Canadá nas últimas décadas. Nesse artigo, relatamos a primeira descrição dos aspectos clínicos e de neuroimagem típicos em uma família brasileira com provável diagnóstico de ARSACS.
Sujets)
Adulte , Femelle , Humains , Mâle , Spasticité musculaire/diagnostic , Ataxies spinocérébelleuses/congénital , Amitriptyline/analogues et dérivés , Amitriptyline/usage thérapeutique , Baclofène/usage thérapeutique , Imagerie par résonance magnétique , Myorelaxants à action centrale/usage thérapeutique , Spasticité musculaire/traitement médicamenteux , Pedigree , Ataxies spinocérébelleuses/diagnostic , Ataxies spinocérébelleuses/traitement médicamenteuxRésumé
The objective of the present study was to determine whether brain single-photon emission computed tomography (SPECT) imaging is capable of detecting perfusional abnormalities. Ten Sydenham's chorea (SC) patients, eight females and two males, 8 to 25 years of age (mean 13.4), with a clinical diagnosis of SC were submitted to brain SPECT imaging. We used HMPAO labeled with technetium-99m at a dose of 740 MBq. Six examinations revealed hyperperfusion of the basal ganglia, while the remaining four were normal. The six patients with abnormal results were females and their data were not correlated with severity of symptoms. Patients with abnormal brain SPECT had a more recent onset of symptoms (mean of 49 days) compared to those with normal SPECT (mean of 85 days) but this difference did not reach statistical significance. Brain SPECT can be a helpful method to determine abnormalities of the basal ganglia in SC patients but further studies on a larger number of patients are needed in order to detect the phase of the disease during which the examination is more sensitive
Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Adulte , Encéphale , Chorée , Noyaux gris centraux , Études de suivi , Écoulement pulsatoire , Tomographie par émission monophotoniqueRésumé
Median nerve SEPs recorded from patient with a high medullary lesion are described. The lesion involved the anteromedial and anterolateral right upper third of the medulla, as documented by MRI. Forty one days after the lesion, left median nerve SEP showed preserved N18 and absent P14 and N20 components; stimulation of the right median nerve evoked normal responses. These findings agree with the proposition that low medullary levels are involved in the generation of the N18 component of the median nerve SEP.