Abstract：
:Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Bonfante E,Koenig MK,Adejumo RB,Perinjelil V,Riascos RFdoi
10.1007/s00247-015-3523-5subject
Has Abstractpub_date
2016-04-01 00:00:00pages
443-51issue
4eissn
0301-0449issn
1432-1998pii
10.1007/s00247-015-3523-5journal_volume
46pub_type
杂志文章,评审abstract：:Many pitfalls result from the limited ability of Doppler instruments to record low flow velocities. These include a misleading resistance or pulsatility index due to diastolic cut-off and taking no signal to equal no flow assuming that no signal means no flow. Comparison of actual flow velocities as measured in an in-...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02013161
更新日期：1990-01-01 00:00:00
abstract：:Primitive malignant renal tumours comprise 6% of all childhood cancers. Wilms tumour (WT) or nephroblastoma is the most frequent type accounting for more than 90%. Imaging alone cannot differentiate between these tumours with certainty but it plays an important role in screening, diagnostic workup, assessment of thera...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-010-1584-z
更新日期：2010-06-01 00:00:00
abstract：:We present an unusual case of popliteal entrapment syndrome type I in an 11-year-old boy. Presenting symptoms were exercise-related pain and pallor in his left lower leg. The diagnosis of popliteal entrapment syndrome was established by acral plethysmography, colour-coded Doppler sonography and MRI. After myotomy of t...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050552
更新日期：1999-02-01 00:00:00
abstract：BACKGROUND:Until recently scurvy has been viewed in developed countries as a disease of the past. More recently there have been reports of case series of children with scurvy who have had a delayed diagnosis after an extensive diagnostic workup that included imaging. Most of these children have had underlying neurologi...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-016-3726-4
更新日期：2017-02-01 00:00:00
abstract：BACKGROUND:Peripherally inserted central catheter (PICC) is among the most common procedures performed in children in the hospital setting. PICC insertion can be simplified with the use of a sheathed needle as an alternative to the modified Seldinger technique. OBJECTIVE:To retrospectively evaluate PICC placement for ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-016-3629-4
更新日期：2016-09-01 00:00:00
abstract：BACKGROUND:The magnetic resonance imaging (MRI) characteristics of evolving duodenal hematomas in children are unknown. OBJECTIVE:To describe the MRI changes exhibited by evolving duodenal hematomas and the likely mechanisms behind these changes. MATERIALS AND METHODS:We retrospectively reviewed the MR features of in...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-018-4178-9
更新日期：2018-10-01 00:00:00
abstract：:A young woman died following bronchography. The bilateral bronchogram done under general anesthesia without fluoroscopic control was associated with extensive small airway filling or "alveolarization" of the contrast medium. The oily Dionosil used had been heated in an autoclave. Experiments showed that the viscosity ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02387657
更新日期：1989-01-01 00:00:00
abstract：:Two cases of aneurysms of the posterior cerebral artery, diagnosed by CT and confirmed angiographically, are reported. In the first case, the aneurysm was discovered fortuitously. The second began with intracerebral haemorrhage. A review of the literature is reported. ...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/BF00974088
更新日期：1988-01-01 00:00:00
abstract：BACKGROUND:It has been suggested that increased hepatic and intramuscular fat is associated with insulin resistance, and that increased pancreatic fat is related to impaired insulin secretion. OBJECTIVE:We postulated that in obese nondiabetic teenagers insulin levels would be directly related to increases in intramusc...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-005-1413-y
更新日期：2005-06-01 00:00:00
abstract：BACKGROUND:Fetal MRI can be performed in the second and third trimesters. During this time, the fetal brain undergoes profound structural changes. Interpretation of appropriate development might require comparison with normal age-based models. Consultation of a hard-copy atlas is limited by the inability to compare mul...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-009-1411-6
更新日期：2010-02-01 00:00:00
abstract：:A case is reported in whom there was a unilateral complete arrest of differentiation of the otocyst associated with an ipsilateral mild hemifacial hypoplasia and auricular abnormalities. The patient's tympanic membrane and VII nerve function were normal and a normal ossicular mass was identified on CT Scan. This case ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02467313
更新日期：1989-01-01 00:00:00
abstract：:We present a 15-year-old girl with peritoneal metastases from a solid pseudopapillary tumour of the pancreas, which had been excised 6 years previously. This is the third paediatric case with metastases to be reported and the fourth patient with peritoneal carcinomatosis. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-003-0875-z
更新日期：2003-04-01 00:00:00
abstract：:Cystic dysplasia of the testis is an uncommon benign cause of an intratesticular mass in children. It is often associated with renal abnormalities, which reflects the close developmental association between the kidneys and testes. The diagnosis is usually suspected based on sonographic findings. We present a case of c...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050508
更新日期：1998-12-01 00:00:00
abstract：:Comparative radiologic/pathologic study of 45 newborns with primary and secondary pulmonary hypoplasia is presented and 43 cases were proven at autopsy. From 9 cases with primary pulmonary hypoplasia, 7 could be identified by 3 independent observers on chest radiographs. The roentgen criteria of primary pulmonary hypo...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02456280
更新日期：1986-01-01 00:00:00
abstract：:beta-Thalassaemia major is a hereditary haemolytic anaemia that is treated with multiple blood transfusions. A major complication of this treatment is iron overload, which leads to cell death and organ dysfunction. Chelation therapy, used for iron elimination, requires effective monitoring of the body burden of iron, ...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-007-0567-1
更新日期：2007-12-01 00:00:00
abstract：:A case of Feuerstein-Mims syndrome (naevus sebaceous, convulsions and mental retardation) is described in association with vitamin D resistant reckets. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00975318
更新日期：1976-12-15 00:00:00
abstract：:Muscle inflammation is a relatively common pathological process in childhood. The diagnosis of the underlying cause relies on an appreciation of the pattern of clinical features, as well as the results of biochemical, histological and radiological investigations. Often the clinical and biochemical features are non-spe...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-006-0166-6
更新日期：2006-10-01 00:00:00
abstract：:A case of heterotopic gastric mucosa in the common bile duct, cystic duct and gallbladder is reported in a 3-year-old girl with abdominal pain and jaundice. Abdominal US and CT showed dilatation of the biliary tree and a well-defined mass in the common bile duct that narrowed its lumen. The gallbladder was contracted ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-002-0718-3
更新日期：2003-02-01 00:00:00
abstract：BACKGROUND:Children with hepatoblastoma routinely undergo repetitive surveillance imaging, with CT scans for several years after therapy, increasing the risk of radiation-induced cancer. OBJECTIVE:The purpose of this study was to determine the utility of surveillance CT scans compared to serum alpha-fetoprotein (AFP) ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-014-3000-6
更新日期：2014-10-01 00:00:00
abstract：:The use of a central venous catheter (CVC) has become commonplace in the care of children with a wide variety of medical and surgical problems. Complications resulting from the insertion of these catheters are well recognized and can be life-threatening. When a temporary CVC or other catheter is inserted into the cent...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-007-0674-z
更新日期：2008-03-01 00:00:00
abstract：:In a period of 6 years 144 asymptomatic boys with cryptorchidism, of mean age 7 +/- SD 3.5 years, underwent orchiopexy. None of these boys referred to a history of a known urological anomaly, urinary tract infection, haematuria, palpable mass in the renal region, bladder extrophy, epispadias, hypospadias or anorectal ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02395760
更新日期：1988-01-01 00:00:00
abstract：:A patient with the characteristic changes of Sturge-Weber syndrome on the right side was found to have a large arteriovenous malformation on the left side which involved the superior ophthalmic vein. This association, although previously reported, is extremely rare. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02015455
更新日期：1994-01-01 00:00:00
abstract：:We report a case of multifocal metachronous giant cell tumor (GCT) that involved the fibula, tibia, and sacrum of a 15-year-old boy. Multifocal GCT of bone presenting in children is an exceedingly rare phenomenon; however, there is evidence that multifocal GCT presents, on average, at a younger age than solitary GCT. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-004-1346-x
更新日期：2005-04-01 00:00:00
abstract：BACKGROUND:A new children's hospital provided the impetus to investigate radiation dose and image quality in a fluoroscope that was specially engineered for pediatric fluoroscopy. Radiation protection management recommends radiation exposures that are as low as reasonably achievable, while still maintaining diagnostic ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050728
更新日期：2000-04-01 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：:We describe the previously unreported finding of ossification within a rhabdomyosarcoma of the extremity in the absence of bone destruction. Rhabdomyosarcoma is a highly malignant tumor but could not be radiographically differentiated from benign or other malignant causes of soft-tissue masses containing calcium. Defi...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00971789
更新日期：1981-01-01 00:00:00
abstract：BACKGROUND:The filamin-1 (FLN-1) gene is responsible for periventricular nodular heterotopia (PNH), which is an X-linked dominant neuronal migration disorder. OBJECTIVE:To review the clinical and imaging findings in a series of patients with documented filamin-1 mutations. MATERIALS AND METHODS:A retrospective review...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470000312
更新日期：2000-11-01 00:00:00
abstract：:Dideoxyinosine (ddI) is a widely used antiretroviral agent in treatment of HIV infection. Pancreatitis is a serious side effect. Two cases are reported, one with rapid development of a pseudocyst. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050099
更新日期：1997-02-01 00:00:00
abstract：:The timing, type, and technique of imaging evaluation of suspected appendicitis in children are all debated. This debate is both local and international. The fact is that choices in imaging evaluation will depend on both local and national influences, which are reasonable and to be expected. There still is a responsib...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-008-1131-3
更新日期：2009-05-01 00:00:00
abstract：:The hypothesis that the normal distribution of relative heart volume in the neonatal period is a mixture of two different populations, with different means and variances, has been tested. The definition of the two populations was (i) normally patent ductus and (ii) closed ductus arteriosus. The assumed frequencies of ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00973155
更新日期：1983-01-01 00:00:00
