Fajtm. Vandenbergh et al., ADENYLOSUCCINASE DEFICIENCY WITH NEONATAL ONSET SEVERE EPILEPTIC SEIZURES AND SUDDEN-DEATH, Neuropediatrics, 29(1), 1998, pp. 51-53
We report a male infant with adenylosuccinase deficiency who developed
epileptic seizures on the second day of life. Growth was normal and s
eizures were well controlled with anti-epileptic drugs. Despite axial
hypotonia associated with peripheral hypertonicity he presented some d
evelopment until seven months of age, when he developed high fever and
died within a few hours. Although clinical heterogeneity in this diso
rder of purine synthesis and interconversion is well-known, in 14 out
of 17 Eases who experienced epilepsy seizures started after the first
year of life. The early presentation in our index patient followed by
his sudden death at the age of 7 months has not been described before.
A search for disorders of purine metabolism should be included in the
screening programme for every child with severe neonatal convulsions.