Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime
نویسندگان
چکیده
منابع مشابه
[Pyridoxine dependent seizures].
Pyridoxine dependent seizures is a rare autosomal recessive disorder. Its manifestations are intractable epilepsy leading to death in status epilepticus. Treatment with pyridoxine prevents the seizures and normalizes the EEG. Early diagnosis is important for the intellectual outcome. In Denmark, the disease has occurred in a child of healthy Tamil immigrants, who are first cousins. The child's ...
متن کاملNeglected Atypical Pyridoxine Dependent Seizures
Omid Yaghini, MD; Mohammad-Amir Shahkarami*, MD; Somayeh Shamsaii, MD Pediatrics Department, Isfahan University of Medical Sciences, Isfahan, IR Iran Received: Nov 02, 2009; Accepted: Mar 13, 2010 Vitamin B6 (pyridoxine) dependent seizure (PDS) is an autosomal-recessively inherited disorder which starts within a few hours of birth or even earlier, and can cause intrauterine seizures[1,2]. It oc...
متن کاملPyridoxine dependent seizures--a wider clinical spectrum.
We report 4 infants with pyridoxine dependent seizures who had clinical features that led to diagnostic uncertainty. Their clinical course was unusual in 1 or more of the following: later onset of initial seizures; a seizure free period after taking of anticonvulsants, but before taking of pyridoxine; a long remission after withdrawal of pyridoxine; and atypical seizure type. This report illust...
متن کاملA case report of pyridoxine dependent seizure
pyridoxine dependent seizure have been recornized as a rare and important cause of intractable seizure in neonates and infants.prompt diagnosis and treatment can stop and prevent these seizure and consequential developmental disabilities.furthermore it can eliminate the unnecessary administration of anticonvulsant medications and thier side effects.the paitient was 7 months old infant who was r...
متن کاملEpidemiology of pyridoxine dependent seizures in the Netherlands.
BACKGROUND Pyridoxine dependent epilepsy is a rare cause of seizures in childhood. The diagnosis is made on clinical criteria, that in many cases are never met. Therefore, epidemiological data on pyridoxine dependency are scarce. AIMS To study the epidemiology of pyridoxine dependent epilepsy in the Netherlands, and to determine whether the diagnosis is based on the appropriate criteria. ME...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2007
ISSN: 0012-1622,1469-8749
DOI: 10.1111/j.1469-8749.2007.00300.x