Role of MRI brain in diagnosis of children with organic acidemia /
Sara Ibrahim Ahmed Nassar
Role of MRI brain in diagnosis of children with organic acidemia / دور تصوير الدماغ بالرنين المغناطيسى فى تشخيص الأطفال المصابين بحمض عضوى Sara Ibrahim Ahmed Nassar ; Supervised Mohamed Farouk Mohamed , Mona Ahmed Kamel Mohamed , Hadeel Mohamed Seif Elden - Cairo : Sara Ibrahim Ahmed Nassar , 2021 - 95 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Introduction: organic acidemias (OAs) are group of metabolic disorders with enzymatic deficiency leading to accumulation of organic acids which has several neurological complications. Magnetic resonance imaging (MRI) of the brain can help in diagnosis of these neurological abnormalities before starting treatment for better outcome. Aim of the work: to evaluate the role of MRI brain in illustrating neurological changes in children with different types of organic acidemias and their diagnosis. Patients and methods: This cross-sectionaldescriptive study was performed on 42 children diagnosed to have organic acidemias and were following up at Pediatrics Hospitals, Cairo University, data from files were obtained including history related to disease, consanguinity, age of onset, clinical manifestations, examination including neurological examination and investigations including, routine laboratory investigations, tandem mass spectroscopy (TMS), other different investigations and MRI brain. Results: Glutaric acidemia I (61.9%) was the mostprevalent OA in our study. Fever and vomiting were more common with propionic acidemiawhile global developmental delay (GDD) was more commonly associated with glutaric acidemia I. Abnormal signals in globus pallidus was commonlydetected in isovaleric acidemia, encephalomalacia was commonlydetected in D2 hydroxy glutaric acidemia and pyroglutamic acidemia.Abnormal signal in basal ganglion was commonly detectedin propionic acidemia and glutaric acidemia I, 3-hydroxy glutaric acidemia. Conclusion: MRI brain had a key role in illustrating neurological changes in children with different types of organic acidemias and their diagnosis
Globus pallidus MRI Organic acidemia
Role of MRI brain in diagnosis of children with organic acidemia / دور تصوير الدماغ بالرنين المغناطيسى فى تشخيص الأطفال المصابين بحمض عضوى Sara Ibrahim Ahmed Nassar ; Supervised Mohamed Farouk Mohamed , Mona Ahmed Kamel Mohamed , Hadeel Mohamed Seif Elden - Cairo : Sara Ibrahim Ahmed Nassar , 2021 - 95 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Introduction: organic acidemias (OAs) are group of metabolic disorders with enzymatic deficiency leading to accumulation of organic acids which has several neurological complications. Magnetic resonance imaging (MRI) of the brain can help in diagnosis of these neurological abnormalities before starting treatment for better outcome. Aim of the work: to evaluate the role of MRI brain in illustrating neurological changes in children with different types of organic acidemias and their diagnosis. Patients and methods: This cross-sectionaldescriptive study was performed on 42 children diagnosed to have organic acidemias and were following up at Pediatrics Hospitals, Cairo University, data from files were obtained including history related to disease, consanguinity, age of onset, clinical manifestations, examination including neurological examination and investigations including, routine laboratory investigations, tandem mass spectroscopy (TMS), other different investigations and MRI brain. Results: Glutaric acidemia I (61.9%) was the mostprevalent OA in our study. Fever and vomiting were more common with propionic acidemiawhile global developmental delay (GDD) was more commonly associated with glutaric acidemia I. Abnormal signals in globus pallidus was commonlydetected in isovaleric acidemia, encephalomalacia was commonlydetected in D2 hydroxy glutaric acidemia and pyroglutamic acidemia.Abnormal signal in basal ganglion was commonly detectedin propionic acidemia and glutaric acidemia I, 3-hydroxy glutaric acidemia. Conclusion: MRI brain had a key role in illustrating neurological changes in children with different types of organic acidemias and their diagnosis
Globus pallidus MRI Organic acidemia