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 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...
متن کاملMutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.
To The ediTor Recently, Lin and colleagues have reported a case of pyridoxine-dependent seizures in this journal 1. The diagnosis was based upon the clinical criteria as formulated by Baxter 2. In discussing the case the authors state that the underlying pathophysiology of the disorder is unknown and that no biochemical aids are available in establishing the diagnosis. Indeed, for 50 years pyri...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1984
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.59.9.906