Abstract：
BACKGROUND:Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. OBJECTIVE:To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MATERIALS AND METHODS:MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score. RESULTS:The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores. CONCLUSION:Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Mohammad SA,Abdelkhalek HS,Ahmed KA,Zaki OKdoi
10.1007/s00247-015-3395-8subject
Has Abstractpub_date
2015-10-01 00:00:00pages
1696-705issue
11eissn
0301-0449issn
1432-1998pii
10.1007/s00247-015-3395-8journal_volume
45pub_type
杂志文章abstract：:Hemangiomas are common vascular tumors occurring in children. Though most of the lesions present in infants and young children with a typical appearance, it is important to understand that they all do not behave in the same way. Rather, they are a group of vascular lesions with different clinico-pathological subtypes,...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-011-2076-5
更新日期：2011-07-01 00:00:00
abstract：:Our aim in this study was to determine whether delaying the initial screening cranial ultrasound on infants of low birth weight until the 2nd week of life affects clinical diagnosis and cost of patient care. Data were reviewed on all premature infants of less than 33 weeks gestation or less than 1500 g birth weight ad...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02019054
更新日期：1995-01-01 00:00:00
abstract：:The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-018-4139-3
更新日期：2018-09-01 00:00:00
abstract：:Four patients between the ages of 2 and 20 years with malignant brain tumors were given several sonographic examinations, using an operative calvarial defect or sutural diastasis as an acoustic window. Three of our cases and 86% of cases with malignant brain tumors reported in the literature are echogenic, making poss...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02388756
更新日期：1985-01-01 00:00:00
abstract：:Ultrasound is an excellent tool to evaluate many pediatric musculoskeletal conditions. It may be used for both diagnosis and for guidance for therapeutic procedures. With US, the radiologist can readily evaluate the contralateral side for comparison. No sedation is typically required and ionizing radiation is avoided....
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-012-2599-4
更新日期：2013-03-01 00:00:00
abstract：:Two patients with different patterns of soft tissue and bone involvement demonstrate the variability of extracutaneous manifestations of juvenile xanthogranuloma, a non-X histiocytosis, better known to dermatologists than to radiologists. ...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/BF02016261
更新日期：1992-01-01 00:00:00
abstract：:We retrospectively reviewed the imaging and surgical findings in 17 patients with duodenal atresia to determine (a) the frequency of coexistent malrotation in patients with duodenal atresia and (b) the reliability of the upper gastrointestinal barium study (UGI) in differentiating malrotation from postoperative deform...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02012180
更新日期：1994-01-01 00:00:00
abstract：:Among all causes of death in children from solid tumors, pediatric brain tumors are the most common. This article includes an overview of a subset of infratentorial and supratentorial tumors with a focus on tumor imaging features and molecular advances and treatments of these tumors. Key to understanding the imaging f...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-015-3326-8
更新日期：2015-09-01 00:00:00
abstract：:With improvements in survival among individuals diagnosed and treated for cancer there is an increasing recognition of the risk of long-term adverse effects of therapy. Second neoplasms represent one of the more serious late effects of treatment and are associated with a substantial level of morbidity and mortality. S...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-008-1066-8
更新日期：2009-02-01 00:00:00
abstract：:We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050309
更新日期：1998-02-01 00:00:00
abstract：BACKGROUND:Erythropoiesis stimulating agents (ESAs) are neuroprotective in cell and animal models of preterm birth. Prematurity has been shown to alter neurometabolite levels in children in studies using proton magnetic resonance spectroscopy (1H-MRS). OBJECTIVE:We hypothesized that ESA treatment in premature infants ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-017-4052-1
更新日期：2018-03-01 00:00:00
abstract：:The human immunodeficiency virus (HIV) epidemic seems largely controlled by anti-retroviral treatment with resultant large numbers of children growing up with the disease on long-term treatment, placing them at higher risk to develop HIV-related brain injury, ongoing cognitive impairment and treatment-related neurolog...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-018-4310-x
更新日期：2019-05-01 00:00:00
abstract：:This report describes a child with hypertrophic pyloric stenosis with persistent vomiting after pyloromyotomy due to a coexistent hypertrophic antral polyp. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050269
更新日期：1997-12-01 00:00:00
abstract：OBJECTIVES:Questionnaires (984) were submitted to pediatric radiologists to determine how often odontoid fractures were missed on lateral views and detected on open-mouth odontoid views in children under 5 years. Other questions relating to imaging protocols of the odontoid also were included, and there were 432 respon...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050043
更新日期：2000-03-01 00:00:00
abstract：:We report the MRI findings in a 3-month-old boy with isolated left ventricular apical hypoplasia. This is a recently described congenital abnormality that consists of an odd, spherically shaped left ventricle due to absence of the ventricular apex. To our knowledge, isolated left ventricular apical hypoplasia has not ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-007-0459-4
更新日期：2007-07-01 00:00:00
abstract：:We report a case of perforation, fistula formation, and small bowel obstruction in a 2-year-old child who had ingested 32 small magnets. Multiple magnets will attract one another through the bowel wall and lead to pressure necrosis with complications. We recommend early surgical intervention before the onset of gastro...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-005-0056-3
更新日期：2006-03-01 00:00:00
abstract：:Imaging plays a major role in the diagnostic work-up of children with hepatobiliary or pancreatic diseases. It consists mainly of US, CT and MRI, with US and MRI being the preferred imaging modalities because of the lack of ionizing radiation. In this review the technique of US, CT and MRI in children will be addresse...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-010-1858-5
更新日期：2011-01-01 00:00:00
abstract：:The imaging of pediatric airways presents a challenge because of the superimposition of the airway over the bone of the spine on the AP view. In recent years, some radiology departments have replaced conventional X-ray films by computed radiography (CR). The effect of the various changes upon image quality and radiati...
journal_title：Pediatric radiology
pub_type： 临床试验,杂志文章
doi：10.1007/s00247-002-0689-4
更新日期：2002-07-01 00:00:00
abstract：:Three children with neurofibromatosis involving the lower urinary tract are reported and their clinical, radiological and pathological findings are described. Lower urinary tract involvement in neurofibromatosis has previously been reported in 17 children, 12 of whom had other stigmata of von Recklinghausens disease. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00975350
更新日期：1976-04-14 00:00:00
abstract：:A 4-13 year follow up study of 29 patients with juvenile rheumatoid arthritis into adulthood revealed several structural deformities of the hips: coxa magna, short femoral neck, subluxations associated with large cyst-like erosions of femur and acetabulum near the ligamentum teres and a flattened, wide femoral head (w...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF01002300
更新日期：1984-01-01 00:00:00
abstract：:58 paediatric patients with pneumonia, in whom an etiological agent had been isolated, were reviewed. The patients were designated to have either viral or bacterial pneumonia on the basis of proposed clinical and radiological criteria. These presumed diagnoses were then compared to the microbiologically proven diagnos...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00974077
更新日期：1988-01-01 00:00:00
abstract：:A previously healthy 24-day-old boy presented with a 2-day history of fever and had a convulsion on the day of admission. MRI showed abnormal signal in the thalami, caudate nuclei and central white matter. Acute necrotising encephalopathy was diagnosed, other causes having been excluded after biochemical and haematolo...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-003-0955-0
更新日期：2003-09-01 00:00:00
abstract：:As the number of patients with liver transplants continues to increase, radiologists need to be aware of the normal post-operative appearance of the different liver transplants currently performed along with the wide variety of complications encountered. The complications commonly affect the biliar and vascular system...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-010-1545-6
更新日期：2010-04-01 00:00:00
abstract：BACKGROUND:Transient synovitis is the most common cause of acute hip pain in children. However, MR imaging findings in transient synovitis and the role of MR imaging in differentiating transient synovitis from septic arthritis have not been fully reported. OBJECTIVE:To describe the MR findings of transient synovitis a...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-006-0289-9
更新日期：2006-11-01 00:00:00
abstract：:A 10-year-old girl presented with a cerebral malignant ectomesenchymoma (MEM), a very unusual tumour with undifferentiated mesenchymal as well as ectodermal elements. Somatostatin receptor scintigraphy (SRS) was performed during the diagnostic workup. The recurrent residual tumour mass was exactly visualized with SRS,...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470000404
更新日期：2001-03-01 00:00:00
abstract：:Virus-associated hemophagocytic syndrome is characterized by the phagocytosis of erthythrocytes and other blood elements in multiple organ systems, especially the liver and spleen. Magnetic resonance imaging (MRI) can suggest this diagnosis in the proper clinical setting by demonstrating multiple, rounded signal voids...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050498
更新日期：1998-12-01 00:00:00
abstract：BACKGROUND:Takayasu's arteritis (TA) is a chronic idiopathic inflammatory disease affecting primarily the aorta, its proximal branches and the pulmonary arteries. OBJECTIVES:To retrospectively review the angiograms of children with TA so as to describe the patterns of vascular involvement. PATIENTS AND METHODS:Twenty...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-002-0817-1
更新日期：2003-04-01 00:00:00
abstract：BACKGROUND:Air enema under fluoroscopy is a well-accepted procedure for the treatment of childhood intussusception. However, the reported radiation doses of pneumatic reduction with conventional fluoroscopy units have been high in decades past. OBJECTIVE:To compare current radiation doses at our institution to past do...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-014-3218-3
更新日期：2015-04-01 00:00:00
abstract：:In infants and children the association of paravertebral widening and abdominal tumour has been regarded as typical of neuroblastoma. However, a paraspinal mass may develop in other malignant tumours too, but seems to be extremely rare in nephroblastoma. The fourth case so far on record is reported. Microscopically th...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00971775
更新日期：1982-01-01 00:00:00
abstract：BACKGROUND:Comprehensive assessment of pediatric congenital heart disease (CHD) at any field strength mandates evaluation of both vascular and dynamic cardiac anatomy for which diagnostic quality contrast-enhanced magnetic resonance angiography (CEMRA) and cardiac cine are crucial. OBJECTIVE:To determine whether high-...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-014-3093-y
更新日期：2015-01-01 00:00:00
