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 of the medical records and MR studies of a series of patients with PNH and confirmed FLN-1 mutations was done. There were 16 female patients (age range: .67-71 years; mean = 28.6) with filamin-1 gene mutations. RESULTS:In six of the patients the same mutation was inherited in four generations in one pedigree. In a second pedigree, a distinct mutation was found in two patients in two generations. In a third pedigree, a third mutation was found in four patients in two generations. The remaining four patients had sporadic de novo mutations that were not present in the parents. Ten patients had seizures, and all patients had normal intelligence. In all 16 patients MR demonstrated bilateral near-continuous PNH. There were no consistent radiographic or clinical differences between patients carrying different mutations. CONCLUSION:Patients with confirmed FLN-1 gene mutations are usually female and have a distinctive MR pattern of PNH. Other female patients with this same MR pattern probably harbor FLN-1 mutations and risk transmission to their progeny. This information is important for genetic counseling.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Poussaint TY,Fox JW,Dobyns WB,Radtke R,Scheffer IE,Berkovic SF,Barnes PD,Huttenlocher PR,Walsh CAdoi
10.1007/s002470000312keywords:
subject
Has Abstractpub_date
2000-11-01 00:00:00pages
748-55issue
11eissn
0301-0449issn
1432-1998journal_volume
30pub_type
杂志文章abstract：:We report the brain magnetic resonance imaging findings in the case of a 5-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Fluid-attenuation inversion recovery (FLAIR) imaging revealed multifocal abnormal cortical signals which were difficult to see on conven...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050089
更新日期：1997-02-01 00:00:00
abstract：:In the context of health care, risk assessment is the identification, evaluation and estimation of risk related to a particular clinical situation or intervention compared to accepted medical practice standards. The goal of risk assessment is to determine an acceptable level of risk for a given clinical treatment or i...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-017-4023-6
更新日期：2018-01-01 00:00:00
abstract：:Goiter secondary to amyloidosis is rare in clinical practice and only a few descriptions of its radiologic features have been reported. We present the ultrasound and MRI findings of thyroid amyloidosis in a 7-year-old Turkish boy with familial Mediterranean fever. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02012155
更新日期：1993-01-01 00:00:00
abstract：:Although rare, inflammatory myofibroblastic tumor is the most common primary lung mass in children. We report the case of an 11-year-old boy investigated for persistent cough and dyspnea with complete left lung atelectasis mimicking pneumonia. CT and MRI showed an endobronchial mass of the left main bronchus. The boy ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-012-2508-x
更新日期：2013-03-01 00:00:00
abstract：:Vasoactive intestinal polypeptide (VIP) secreting neural crest tumours are an uncommon but important treatable cause of intractable childhood diarrhoea. The radiological appearances of two cases are presented with a review of radiological findings in childhood VIP secreting neural crest tumours. Twenty eight cases of ...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/BF02011377
更新日期：1990-01-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-016-3737-1
更新日期：2017-03-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470000351
更新日期：2000-12-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-012-2344-z
更新日期：2012-05-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02015783
更新日期：1995-01-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-007-0702-z
更新日期：2008-03-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00978815
更新日期：1975-11-24 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：BACKGROUND:Excessive cervical flexion-extension accompanying mild to severe impact injuries can lead to C2 synchondrosal fractures in young children. OBJECTIVE:To characterize and classify C2 synchondrosal fracture patterns. MATERIALS AND METHODS:We retrospectively reviewed imaging and medical records of children who...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-014-3224-5
更新日期：2015-06-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-007-0511-4
更新日期：2007-08-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-006-0253-8
更新日期：2006-10-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-014-2888-1
更新日期：2014-07-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-011-2213-1
更新日期：2011-11-01 00:00:00
abstract：BACKGROUND:It is debated whether iso-osmolar and low-osmolar contrast media are associated with different incidences of contrast medium-induced nephropathy (CIN) in patients with renal insufficiency. OBJECTIVE:To compare the incidence of CIN in children undergoing contrast-enhanced multidetector computer tomography (M...
journal_title：Pediatric radiology
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1007/s00247-011-2164-6
更新日期：2011-11-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02021709
更新日期：1995-01-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章,已发布勘误
doi：10.1007/s00247-017-4064-x
更新日期：2018-07-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章,评审
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更新日期：2019-04-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-016-3549-3
更新日期：2016-05-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-004-1291-8
更新日期：2004-12-01 00:00:00
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02386871
更新日期：1986-01-01 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
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journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-019-04445-x
更新日期：2019-08-01 00:00:00
abstract：:One hundred and ten children, ages 6 days to 14 years, were investigated for vesicoureteral reflux (VUR) using ultrasound before voiding cystourethrography (VCU). Sonographically a VUR was assumed if a retrovesical dilated ureter and/or an increase of the separation of the central renal echo complex (CRC) could be det...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02343428
更新日期：1984-01-01 00:00:00
abstract：:Long-term imaging and clinical findings are reported in six children whose polycystic kidney disease was detected in infancy or early childhood. Over time (2 years to 20 years) all patients developed portal hypertension from hepatic fibrosis, a problem primarily noted in recessive pattern polycystic kidney disease. Mi...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02387555
更新日期：1988-01-01 00:00:00
abstract：:Suspected appendicitis is the most common indication for emergent abdominal surgery in children. The clinical diagnosis of appendicitis can be challenging, and CT is playing an increasing role in the evaluation of right lower quadrant pain. Occasionally, alternative diagnoses to appendicitis can be suggested on CT. Th...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-008-1110-8
更新日期：2009-04-01 00:00:00
abstract：:Lap belt restraints in motor vehicle collisions have been associated with a variety of injuries, mainly bowel and lumbar spine. Cephalad positioning of the belt over the intended position across the anterior superior iliac spines (which typically occurs in younger children) is thought to be responsible for the observe...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-002-0779-3
更新日期：2002-12-01 00:00:00
