53
Journal of Neonatal-Perinatal Medicine 8 (2015) 53–55 DOI 10.3233/NPM-15814029 IOS Press
Case Report
Isolated sulfite oxidase deficiency B. Relinque∗ , L. Bardallo, M. Granero, P.J. Jim´enez and S. Luna Neonatal Unit. Hospital Universitario Virgen Macarena, Sevilla (Spain)
Received 27 March 2014 Revised 18 July 2014 Accepted 12 September 2014
Abstract. BACKGROUND: Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature. CASE PRESENTATION: We report a case of severe neonatal onset. A newborn baby of 41 weeks gestational age, weighted at birth of 3240 grams and had an Apgar score of 6-10-10. Fifty-three hours after being born, the baby started with seizures that were refractory to antiepileptic treatment. Brain function was monitored using a-EEG. Laboratory and imaging tests were performed. All of them were consistent with sulfite oxidase deficiency. The diagnosis was confirmed by genetic testing. CONCLUSIONS: We highlight the importance of this disease as part of the differential diagnosis of seizures during the neonatal period, as well as the importance of the therapeutic support based on dietary restrictions. It’s also remarkable the possibility of prenatal diagnosis by quantifying enzyme activity and it’s also possible carrying out DNA mutational analysis. Keywords: Sulfite oxidase deficiency, refractory seizures, neonatal
Abbreviations GA EEG MRI ICU SOX HPLC NMDA
Gestational age Electoencephalography Magnetic resonance imaging Intensive care unit Sulfite oxidase High-performance liquid chromatography N-Methyl-D-aspartate
1. Introduction Sulfite oxidase deficiency is an uncommon autosomal recessive hereditary metabolic disease. It can occur on its own or it can be part of a combined deficiency ∗ Corresponding
author: Beatriz Relinque Mac´ıas. Neonatal Unit. Hospital Universitario Virgen Macaren Avd. Dr. Fedriani, 3 41009. Sevilla, Spain. Tel.: +34 617345387; Fax: +34 956655022; E-mail: [email protected].
of the 3 enzymes that share the molybdenum cofactor. Very few cases of this deficiency have been reported in its isolated form. We present the case of a newborn baby with an isolated severe neonatal onset sulfite oxidase deficiency.
2. Case report A baby born 53 hours previously was admitted due to generalized hypertonia, poor reactivity, weak cry and poor suck. His parents were non-consanguineous, without diseases and he also had a healthy brother. Personal history: It was a controlled pregnancy, 41 weeks of gestational age (GA) without disease, vaginal delivery, and umbilical cord with true knot. The cord pH 7.38 and the Apgar test was 6-10-10. Weight 3240 g. Examination: stuporous, weak cry, hypertonia in the limbs, 4 limbs extended, uncoordinated movements, plantar grasp reflex, weak palms
1934-5798/15/$35.00 © 2015 – IOS Press and the authors. All rights reserved
54
B. Relinque et al. / Isolated sulfite oxidase deficiency
Fig. 2. Brain MRI (Diffusion): restricted diffusion in basal ganglia and corticomedullary junctions.
Fig. 1. Brain MRI (FLAIR): diffuse hyperintensity in basal ganglia and cystic formations in white matter, thinned cerebral cortex.
and poor suck, search and moro absent, normotensive fontanelle, isochoric and reactive pupils. On admission, the baby had repeated generalized tonic seizures with axial hypertonia and boxing movements in the legs. Anticonvulsant treatment was introduced with poor result. We monitored brain function using EEGa, which showed tracing of the status epilepticus, which required a drug-induced coma to control seizures. Other diagnosis tests: positive urine sulfite test (40 mgr/l); EEG: it was observed burst-suppression pattern; the brain MRI FLAIR showed diffuse hyperintensity in basal ganglia and cystic formations in white matter, thinned cerebral cortex (Fig. 1); brain MRI Diffusion: restricted diffusion in basal ganglia and corticomedullary junctions (Fig. 2). In the biochemical study of hereditary metabolic diseases there was an increased urine sulfocysteine excretion (120 mmol/mol creat) (Normal
Journal of Neonatal-Perinatal Medicine 8 (2015) 53–55 DOI 10.3233/NPM-15814029 IOS Press
Case Report
Isolated sulfite oxidase deficiency B. Relinque∗ , L. Bardallo, M. Granero, P.J. Jim´enez and S. Luna Neonatal Unit. Hospital Universitario Virgen Macarena, Sevilla (Spain)
Received 27 March 2014 Revised 18 July 2014 Accepted 12 September 2014
Abstract. BACKGROUND: Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature. CASE PRESENTATION: We report a case of severe neonatal onset. A newborn baby of 41 weeks gestational age, weighted at birth of 3240 grams and had an Apgar score of 6-10-10. Fifty-three hours after being born, the baby started with seizures that were refractory to antiepileptic treatment. Brain function was monitored using a-EEG. Laboratory and imaging tests were performed. All of them were consistent with sulfite oxidase deficiency. The diagnosis was confirmed by genetic testing. CONCLUSIONS: We highlight the importance of this disease as part of the differential diagnosis of seizures during the neonatal period, as well as the importance of the therapeutic support based on dietary restrictions. It’s also remarkable the possibility of prenatal diagnosis by quantifying enzyme activity and it’s also possible carrying out DNA mutational analysis. Keywords: Sulfite oxidase deficiency, refractory seizures, neonatal
Abbreviations GA EEG MRI ICU SOX HPLC NMDA
Gestational age Electoencephalography Magnetic resonance imaging Intensive care unit Sulfite oxidase High-performance liquid chromatography N-Methyl-D-aspartate
1. Introduction Sulfite oxidase deficiency is an uncommon autosomal recessive hereditary metabolic disease. It can occur on its own or it can be part of a combined deficiency ∗ Corresponding
author: Beatriz Relinque Mac´ıas. Neonatal Unit. Hospital Universitario Virgen Macaren Avd. Dr. Fedriani, 3 41009. Sevilla, Spain. Tel.: +34 617345387; Fax: +34 956655022; E-mail: [email protected].
of the 3 enzymes that share the molybdenum cofactor. Very few cases of this deficiency have been reported in its isolated form. We present the case of a newborn baby with an isolated severe neonatal onset sulfite oxidase deficiency.
2. Case report A baby born 53 hours previously was admitted due to generalized hypertonia, poor reactivity, weak cry and poor suck. His parents were non-consanguineous, without diseases and he also had a healthy brother. Personal history: It was a controlled pregnancy, 41 weeks of gestational age (GA) without disease, vaginal delivery, and umbilical cord with true knot. The cord pH 7.38 and the Apgar test was 6-10-10. Weight 3240 g. Examination: stuporous, weak cry, hypertonia in the limbs, 4 limbs extended, uncoordinated movements, plantar grasp reflex, weak palms
1934-5798/15/$35.00 © 2015 – IOS Press and the authors. All rights reserved
54
B. Relinque et al. / Isolated sulfite oxidase deficiency
Fig. 2. Brain MRI (Diffusion): restricted diffusion in basal ganglia and corticomedullary junctions.
Fig. 1. Brain MRI (FLAIR): diffuse hyperintensity in basal ganglia and cystic formations in white matter, thinned cerebral cortex.
and poor suck, search and moro absent, normotensive fontanelle, isochoric and reactive pupils. On admission, the baby had repeated generalized tonic seizures with axial hypertonia and boxing movements in the legs. Anticonvulsant treatment was introduced with poor result. We monitored brain function using EEGa, which showed tracing of the status epilepticus, which required a drug-induced coma to control seizures. Other diagnosis tests: positive urine sulfite test (40 mgr/l); EEG: it was observed burst-suppression pattern; the brain MRI FLAIR showed diffuse hyperintensity in basal ganglia and cystic formations in white matter, thinned cerebral cortex (Fig. 1); brain MRI Diffusion: restricted diffusion in basal ganglia and corticomedullary junctions (Fig. 2). In the biochemical study of hereditary metabolic diseases there was an increased urine sulfocysteine excretion (120 mmol/mol creat) (Normal
