A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey
| Autor: | Şeyma Memur, Fatih Kardaş, Mehmet Adnan Ozturk, Tamer Gunes, Hülya Halis, Levent Korkmaz, Osman Baştuğ, Zuhal Tağ |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Fumaric acid Fumarase deficiency business.industry Case Report Case presentation 030105 genetics & heredity medicine.disease Hypotonia 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Atrophy chemistry Pediatrics Perinatology and Child Health medicine Polymicrogyria medicine.symptom business 030217 neurology & neurosurgery Consanguineous Marriage Ventriculomegaly |
| Zdroj: | Türk Pediatri Arşivi. 49:74-76 |
| ISSN: | 1308-6278 1306-0015 |
| DOI: | 10.5152/tpa.2014.442 |
| Popis: | Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis, intrauterine growth retardation, enlarged brain ventricles and brain anomalies are observed. Growth and development failure, hypotonia, seizures and brain atrophy are the common characteristics of patients with fumarase deficiency. On cranial imaging, the most common findings include polymicrogyria and ventriculomegaly. In our country where consanguineous marriages are common, the incidences of autosomal recessive diseases are expected to be high. In a patient who was born from a consanguineous marriage and referred to our hospital at the age of 45 days because of hyperamonemia and opistotonus, a diagnosis of fumaric aciduria was made with organic acid analysis performed considering metabolic diseases and this diagnosis was supported with radiological investigations. We thought this case was worth presenting, since there was no case of fumaric aciduria reported before in our country. |
| Databáze: | OpenAIRE |
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