The Journal of pediatrics · 2007
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Mouchegh Katharina, Zikánová Marie, Hoffmann Georg F, Kretzschmar Benno, Kühn Thomas, Mildenberger Eva, Stoltenburg-Didinger Gisela, Krijt Jakub, Dvoráková Lenka, Honzík Tomás, Zeman Jiri, Kmoch Stanislav, Rossi Rainer
Аннотация
OBJECTIVE: To characterize a new lethal fetal and early postnatal variant of adenylosuccinate lyase (ADSL) deficiency.
STUDY DESIGN: This was a retrospective analysis of 6 patients with very early presentation of ADSL deficiency.
RESULTS: Most of the 6 patients had impaired intrauterine growth, microcephaly, fetal hypokinesia, and a lack of fetal heart rate variability. Postnatally, they shared severe muscular hypotonia necessitating mechanical ventilation, intractable seizures, and early death. All 6 patients had biochemical evidence of severe (type 1) disease and low residual ADSL activities. All were compound heterozygous for mutations that, based on expression studies, have a pronounced effect on ADSL activity and/or stability.
CONCLUSIONS: ADSL deficiency may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal encephalopathy. This clinical presentation is associated with genotypes resulting in very low residual enzyme activity.
STUDY DESIGN: This was a retrospective analysis of 6 patients with very early presentation of ADSL deficiency.
RESULTS: Most of the 6 patients had impaired intrauterine growth, microcephaly, fetal hypokinesia, and a lack of fetal heart rate variability. Postnatally, they shared severe muscular hypotonia necessitating mechanical ventilation, intractable seizures, and early death. All 6 patients had biochemical evidence of severe (type 1) disease and low residual ADSL activities. All were compound heterozygous for mutations that, based on expression studies, have a pronounced effect on ADSL activity and/or stability.
CONCLUSIONS: ADSL deficiency may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal encephalopathy. This clinical presentation is associated with genotypes resulting in very low residual enzyme activity.