Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia
Journal Title: Dicle Tıp Dergisi - Year 2015, Vol 42, Issue 4
Abstract
Very long chain fatty acids accumulate in many tissues and organs in the peroxisomal disorders due to defects in fatty acid metabolism. Although the disease may be manifested as severe symptoms causing early death due to hypotonia, poor feeding, respiratory problems, cerebral dysgenesis, liver and kidney dysfunctions, it may be presented as late onset with mild symptoms. We presented a 4 months-old male infant with peroxisomal disorder diagnosed by dysmorphic facial appearance, hypotonia since birth, feeding difficulties, respiratory distress, severe cerebral dysgenesis and increased very long chain fatty acids due to its rarity. Key words: Peroxisomal disorder, hypotonia, severe cerebral dysgenesis
Authors and Affiliations
Osman Yeşilbaş, Hasan Kıhtır, Melike Ersoy, Hamdi Yıldırım, Müge Sungur, Esra Şevketoğlu
Keywords
Related Articles
- EP ID EP101237
- DOI 10.5798/diclemedj.0921.2015.04.0625
- Views 74
- Downloads 0
Female infertility and endocrinological diseases
In this review endocrinologic diseases are briefly discussed regarding their interrelated aspects with infertility. Many endocrinologic diseases are underestimated during infertility treatment. As careful different...
Serum 25(OH) D vitamini düzeyinin hemogram parametreleri üzerine etkisi
Amaç: D vitamini pleitropik hormon özellikleri olan yağda çözünen bir vitamindir. Genel anlamda rikets ile beraber anılır ancak yapılan araştırmalar D vitamininin kemik dışı dokularda da etkin olduğunu göstermektedir. B...
Evaluation of very low birth weight infants in the neonatal intensive care unit of a university hospital
Objective: Neonates with birth weights below 1500 g who were cared for in the neonatal intensive care unit of Fatih University Hospital were retrospectively examined in order to define their rates of morbidity and morta...
Peritoneal mesothelioma: Contribution of computerized tomography and magnetic resonance imaging findings to differential diagnosis
Objective: In this article, we review radiologic findings of malignant peritoneal mesothelioma with our patient archives. We also want to determine importance of radiologic findings about differential diagnosis of mal...
Yttrium-90 radioembolization for the treatment of unresectable liver cancer:Results of a single center
Objective: To determine the effects of yttrium-90 (Y-90) resin microsphere radioembolization therapy on patients with unresectable liver cancer who do not benefit from chemotherapy. Methods: Fifty-five patients under...