First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy
نویسندگان
چکیده
منابع مشابه
Pyridoxine-Dependent Epilepsy
A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of nonconsanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as well as cerebrospinal fl uid analysis were ...
متن کاملPyridoxine dependent epilepsy with iatrogenic sensory neuronopathy.
An 18-year-old man was treated from birth with chronic high dose pyridoxine (vitamin B6) up to 2000 mg per day for pyridoxine-dependent seizures. Within two years of onset of treatment, he developed a sensory neuropathy which did not progress over the following 16 years. Electrophysiological studies were consistent with a pure sensory neuronopathy expressed as centripetal degeneration of proces...
متن کاملPyridoxine dependent epilepsy and antiquitin deficiency
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up Sylvia Stockler ⁎, Barbara Plecko , Sidney M. Gospe Jr. , Marion Coulter-Mackie , Mary Connolly , Clara van Karnebeek , Saadet Mercimek-Mahmutoglu , Hans Hartmann , Gunter Scharer , Eduard Struijs , Ingrid Tein , Cornelis Jakobs , Peter Clayto...
متن کاملLong-term outcome in pyridoxine-dependent epilepsy.
AIM The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied. METHOD Fourteen patients recruited from a national reference laboratory were included (four males, 10 females, from 11 families; median age at assessment 6y; range 2y 6mo-16y). The following data were retrieved: sex; age ...
متن کاملTriple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by response to pharmacologic doses of pyridoxine. PDE is caused by deficiency of α-aminoadipic semialdehyde dehydrogenase resulting in impaired lysine degradation and subsequent accumulation of α-aminoadipic semialdehyde. Despite adequate seizure control with pyridoxine monotherapy, 75% of individuals with PDE have...
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ژورنال
عنوان ژورنال: Military Medical and Pharmaceutical Journal of Serbia
سال: 2017
ISSN: 0042-8450,2406-0720
DOI: 10.2298/vsp150311244j