Biotin-Responsive Ophthalmoplegia / Dystonia

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

DOPA RESPONSIVE DYSTONIA: A CASE REPORT

Dopa responsive dystonia (DRD) is a dystonic syndrome of childhood, usually affecting gait and subsequently developing into parkinsonism with a dramatic therapeutic response to levodopa. At the best of our recollection this is the first case in Iranian medical literature of a 13 year old boy, affected by this interesting, rare and treatable disease which can be easily diagnosed if clinicia...

متن کامل

Biotin responsive limb weakness.

We report acute onset quadriplegia in a ten year old boy associated with basal ganglia lesions due to biotin deficiency. Prolonged raw egg consumption was identified as predisposing factor for biotin deficiency. Treatment with biotin resulted in remarkable recovery.

متن کامل

Dopa-Responsive Dystonia after used Lamotrigine: Case reports

Epilepsy is a common neurologic disorder affecting approximately 1% of the population. The prevalence of active epilepsy in Kerman,Iran is 7.87/1000 individuals. The past decade has brought many advances to the treatment of epilepsy, including many new pharmacological agents. Lamotrigine is one of the new antiepileptic drugs. Lamotrigine has many side effects; the most important of which are al...

متن کامل

Dopa responsive dystonia.

There may be insufficient awareness of dopa responsive dystonia (DRD), which has a characteristic diurnal variation of symptoms. Two children are reported in whom the diagnosis of DRD was missed. The first was thought to have hysteria and the second hereditary spastic paraparesis. A full history is vital for the diagnosis of this important treatable syndrome.

متن کامل

Fluctuating dystonia responsive to levodopa.

Four cases of hereditary progressive dystonia with diurnal fluctuation were studied. All were sporadic; three of them mimicked spastic diplegia; and the fourth showed some similarity to torsion dystonia. Emotional or cognitive disturbance, or both, was seen in three. The correct diagnosis was suggested by fluctuating signs and symptoms, which worsened towards evening, but this was reached only ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Pediatric Neurology Briefs

سال: 2013

ISSN: 2166-6482,1043-3155

DOI: 10.15844/pedneurbriefs-27-8-8