[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 case story is described and points to awareness of increased occurrence of rare autosomal recessive disorders in immigrants from cultures with traditional consanguinity. We suggest giving a pyridoxine test dosis to all cases of severe epilepsy and status epilepticus in infants younger than 18 months.
Hansen
K N
KN
Arhus Kommunehospital, paediatrisk afdeling.
Ostergaard
J R
JR
Møller
S M
SM
D003241:Consanguinity; D003718:Denmark; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011736:Pyridoxine / Q000008:administration & dosage / Q000378:metabolism*; D013036:Spasms, Infantile / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D013188:Sri Lanka / Q000208:ethnology
D011736:Pyridoxine
Pyridoxinafhaengige kramper.