Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency
We report a four-year-old girl who presented with intrauterine growth retardation, mild dysmorphism, cleft palate, microcephaly, developmental delay, epilepsy and recurrent lower respiratory tract infection and diagnosed short-chain acyl-CoA dehydrogenase deficiency. Metabolic evaluation and molecu...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2017-12-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/1058 |
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| _version_ | 1850024004407001088 |
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| author | Mustafa Kılıç Saliha Şenel Kadri Karaer Serdar Ceylaner |
| author_facet | Mustafa Kılıç Saliha Şenel Kadri Karaer Serdar Ceylaner |
| author_sort | Mustafa Kılıç |
| collection | DOAJ |
| description |
We report a four-year-old girl who presented with intrauterine growth retardation, mild dysmorphism, cleft palate, microcephaly, developmental delay, epilepsy and recurrent lower respiratory tract infection and diagnosed short-chain acyl-CoA dehydrogenase deficiency. Metabolic evaluation and molecular analysis confirmed the diagnosis. In spite of many patients already known in literature, this is one of the rarest reports of a Turkish patient. This suggests selective metabolic screening should be done in every patient with unknown etiology of neurological disorder. Furthermore, newborn screening using tandem mass spectrometry may prevent this severe neurological impairment.
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| format | Article |
| id | doaj-art-dd20cc024cfd4ed59af25a4e69e69bd8 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2017-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-dd20cc024cfd4ed59af25a4e69e69bd82025-08-20T03:01:14ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212017-12-0159610.24953/turkjped.2017.06.016Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiencyMustafa Kılıç0Saliha Şenel1Kadri KaraerSerdar CeylanerDivision of Metabolism, Dr. Sami Ulus Children Hospital, 3Intergen Laboratory, Ankara, Turkey.Department of Pediatrics, Dr. Sami Ulus Children Hospital, 3Intergen Laboratory, Ankara, Turkey. We report a four-year-old girl who presented with intrauterine growth retardation, mild dysmorphism, cleft palate, microcephaly, developmental delay, epilepsy and recurrent lower respiratory tract infection and diagnosed short-chain acyl-CoA dehydrogenase deficiency. Metabolic evaluation and molecular analysis confirmed the diagnosis. In spite of many patients already known in literature, this is one of the rarest reports of a Turkish patient. This suggests selective metabolic screening should be done in every patient with unknown etiology of neurological disorder. Furthermore, newborn screening using tandem mass spectrometry may prevent this severe neurological impairment. https://turkjpediatr.org/article/view/1058ACADSSCADdevelopmental delayepilepsymicrocephaly |
| spellingShingle | Mustafa Kılıç Saliha Şenel Kadri Karaer Serdar Ceylaner Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency The Turkish Journal of Pediatrics ACADS SCAD developmental delay epilepsy microcephaly |
| title | Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency |
| title_full | Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency |
| title_fullStr | Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency |
| title_full_unstemmed | Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency |
| title_short | Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency |
| title_sort | microcephaly and developmental delay caused by short chain acyl coa dehydrogenase deficiency |
| topic | ACADS SCAD developmental delay epilepsy microcephaly |
| url | https://turkjpediatr.org/article/view/1058 |
| work_keys_str_mv | AT mustafakılıc microcephalyanddevelopmentaldelaycausedbyshortchainacylcoadehydrogenasedeficiency AT salihasenel microcephalyanddevelopmentaldelaycausedbyshortchainacylcoadehydrogenasedeficiency AT kadrikaraer microcephalyanddevelopmentaldelaycausedbyshortchainacylcoadehydrogenasedeficiency AT serdarceylaner microcephalyanddevelopmentaldelaycausedbyshortchainacylcoadehydrogenasedeficiency |