Abstract
The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland.
Highlights
The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland
At one year dystonic movements and swallowing difficulties developed. She walked at 3 years, hypotonia was replaced by spasticity, and her IQ was measured at 46
CSF sepiapterin levels were elevated, and a phenylalanine loading test showed a marked increase in phenylalanine
Summary
The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland. The risk of relapse, and subsequent diagnosis of MS in patients initially considered ADEM is 10% in one previous study (Tenembaum et al 2002; Ped Neur Briefs 2002; 16:81). Progressive global delay, intermittent dystonic movements, and oculogyric crises followed.
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