Abstract：
:Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation. We will review the clinical and radiologic findings in a new patient from birth to 20 years; this is believed to be the thirty-fifth patient reported. OS-CS is 2.5 times more common in females and occurs as an autosomal dominant condition or a sporadic dominant mutation with patients presenting for evaluation from the newborn period to the fifth decade. Skeletal abnormalities are distinctive including sclerosis of the skull base and calvarium, linear striated densities in the long bones and pelvis, and poor development of the mastoid and sinus air cells. Radionuclide bone scans with SPECT indicated in our patient increased bone turnover which was supported by biochemical findings of increased pyridinoline excretion. The major complications are due to constriction of essential foramina at the skull base. The condition is not life-threatening but can produce disability.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Gay BB Jr,Elsas LJ,Wyly JB,Pasquali Mdoi
10.1007/BF02017665subject
Has Abstractpub_date
1994-01-01 00:00:00pages
56-60issue
1eissn
0301-0449issn
1432-1998journal_volume
24pub_type
杂志文章,评审abstract：BACKGROUND:We have clinically encountered children with fibrodysplasia ossificans progressiva who had abnormal calcaneal ossification. OBJECTIVE:To evaluate whether calcaneal ossification variants are significant radiographic findings in children with fibrodysplasia ossificans progressiva. MATERIALS AND METHODS:Later...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-016-3662-3
更新日期：2016-10-01 00:00:00
abstract：BACKGROUND:Hepatic involvement is frequent in patients with cystic fibrosis (CF), with focal biliary cirrhosis being the pathognomonic hepatic manifestation. In around one-quarter of CF patients, it results in CF-associated liver disease (CFLD). This occurs as a relatively early complication with the majority of patien...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-009-1531-z
更新日期：2010-07-01 00:00:00
abstract：:We present an unusual case of severe hydranencephaly in a term infant who presented with the following additional unique features, which were discovered on CT, MRI and MR angiography examinations: (1) occlusion of the bilateral posterior cerebral arteries, (2) absence of the occipital lobes, (3) an ovoid calcified mas...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-010-1894-1
更新日期：2011-02-01 00:00:00
abstract：BACKGROUND:Assessment tools for early cystic fibrosis (CF) lung disease are limited. Detecting early pulmonary disease is crucial to increasing life expectancy by starting interventions to slow the progression of the pulmonary disease with the many treatment options available. OBJECTIVE:To compare the utility of lung ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-020-04638-9
更新日期：2020-06-01 00:00:00
abstract：:A patient with tuberous sclerosis and a normal intravenous urogram 5 years previously presented with a large and palpable upper pole renal mass. Since patients with tuberous sclerosis have small bilateral hamartomas, a Wilms' tumor was suspected. In retrospect, inhomogenous nephrograms should have alerted the radiolog...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF01092953
更新日期：1980-07-01 00:00:00
abstract：BACKGROUND:Spinal imaging has been a neglected part of abusive head trauma (AHT) imaging. As most of the radiographs and CT spine are negative in AHT in infants, the cervical spine is assumed to be normal. There is increasing evidence in the role of injury to brainstem and cervical cord in the pathogenesis of AHT. In a...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-014-2959-3
更新日期：2014-09-01 00:00:00
abstract：:A case of Darrow-Gamble disease is presented with review of the radiographic and ultrasonographic appearance of this rare cause of profound chronic diarrhea beginning at birth. The disease is caused by a defect of active intestinal chloride transport which results in a large loss of the electrolytes and water. To prev...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02020230
更新日期：1993-01-01 00:00:00
abstract：BACKGROUND:After the insertion of a central venous catheter, a chest radiograph is usually obtained to ensure correct positioning of the catheter tip. OBJECTIVE:To determine in a paediatric population whether B-mode and colour Doppler sonography after central venous access is useful to evaluate catheter position, thus...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-006-0307-y
更新日期：2006-12-01 00:00:00
abstract：:Cystic fibrosis (CF) is a multiorgan disease caused by mutation of the CF transmembrane conductance regulator (CFTR) gene. Obstructive lung disease is the predominant cause of morbidity and mortality; thus, most efforts to improve outcomes are directed toward slowing or halting lung-disease progression. Current therap...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-005-1445-3
更新日期：2005-08-01 00:00:00
abstract：:Patients with cat-scratch disease (CSD) may develop visceral manifestations such as hepatic and splenic granulomas. Normally, the granulomas disappear within 1-5 months. Two previous reports have described the evolution of splenic lesions into small calcifications. We report a case of cat-scratch disease in which long...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02012123
更新日期：1994-01-01 00:00:00
abstract：:We review our experience with unusual ocular pathologies, some mimicking retinoblastoma, that were referred to our institution during the past two decades. After presenting the imaging anatomy of the normal eye, we discuss pertinent clinical and pathological features, and illustrate the US and MRI appearance of retino...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-012-2374-6
更新日期：2012-06-01 00:00:00
abstract：:Smooth muscle neoplasms seem to be particularly frequent in children with AIDS, and several cases of such lesions, both benign and malignant (leiomyomas and leiomyosarcomas), have recently been reported in the literature. We describe here the imaging findings in a boy with AIDS who developed two leiomyomas of the gall...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050074
更新日期：1997-01-01 00:00:00
abstract：:malrotation and Hirschsprung's disease are common gastrointestinal abnormalities in neonates and infants. Four patients with the association of malrotation and Hirschsprung's disease are reported. A delay in diagnosis may be complicated by midgut volvulus or enterocolitis. The diagnostic and therapeutic implications o...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF01221703
更新日期：1982-01-01 00:00:00
abstract：:Congenital solitary nonparasitic cysts of the liver (CSNCL) are extremely rare causes of abdominal masses in newborns and infants. We describe a cystic abdominal mass virtually all extrahepatic in a newborn that proved to be a CSNCL. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02013009
更新日期：1992-01-01 00:00:00
abstract：:Leiomyosarcoma of the lung is a type of tumour rarely found in childhood. It arises from smooth muscle either of bronchial or arterial walls, has a variable pattern of local growth, blood-borne metastatic spread with lymph nodes sparing and a clinical course characterized by fever, cough and worsening dyspnea. We repo...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02456296
更新日期：1986-01-01 00:00:00
abstract：:Pediatric blunt scrotal trauma is most often the consequence of sports injury and presents a diagnostic challenge because swelling and pain make a scrotal physical exam difficult. US with color flow and duplex Doppler is the first-line imaging modality with the goal of accurate and timely diagnosis of injury requiring...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-016-3600-4
更新日期：2016-06-01 00:00:00
abstract：BACKGROUND:Sclerotic bone lesions are often seen on chest CT in adults with tuberous sclerosis complex. OBJECTIVE:To characterize bone lesions at abdominal MRI in children with tuberous sclerosis complex. MATERIALS AND METHODS:This retrospective review included 70 children with tuberous sclerosis complex who had unde...
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
abstract：:Ferumoxytol is an ultra-small superparamagnetic iron oxide (USPIO) particle that is FDA-approved for parenteral treatment of iron deficiency anemia in adults with chronic kidney disease. Because of the association between gadolinium-based contrast agents and nephrogenic systemic fibrosis in patients with severe chroni...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-016-3605-z
更新日期：2016-08-01 00:00:00
abstract：:While patient and family-centered care (PFCC) is currently a hot topic in medicine, it has long been a specific focus of pediatrics. The concept of PFCC includes a change in culture where physicians and patients move away from paternalism and instead view patients and families as partners in care. Although there are m...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-020-04742-w
更新日期：2020-10-01 00:00:00
abstract：:Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder that typically presents with skin xanthomas and pancreatitis in childhood. We report a case of LLD in an infant who presented with jaundice caused by a pancreatic head mass. Abdominal imaging also incidentally revealed hyperechoic renal masses caused by ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-010-1560-7
更新日期：2010-08-01 00:00:00
abstract：:Abdominal ultrasound was performed in 58 children presenting with proven acute hepatitis A and in 63 controls of the same age. There are well-known echographic signs of hepatitis (liver enlargement, gallbladder wall thickening, periportal hyperechogenicity) but they were not constantly found. We describe in all the he...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02019659
更新日期：1990-01-01 00:00:00
abstract：:We report a rare example of catastrophic antiphospholipid syndrome (CAPS) in a young child. A 3-year-old girl with no previous medical history presented with extensive and recurrent thromboses. The diagnosis of CAPS was based on the occurrence of cardiopulmonary embolism in the child with a high titre of autoantibodie...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-006-0183-5
更新日期：2006-08-01 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：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：:Appropriate management of the child with malrotation and/or midgut volvulus requires a multi-disciplinary approach with early clinical suspicion, rapid confirmation of diagnosis, and expedient operative intervention in order to obtain the most effective outcomes. ...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-008-1129-x
更新日期：2009-04-01 00:00:00
abstract：:Benign lymphoid polyps are a rare histologic entity and should not be confused with malignant disease of the colon and rectum. Although retention polyps are the single most common type of colonic polyp in children, the presence of multiple clustered polyps in the rectum should alert the radiologist to the possibility ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00975406
更新日期：1975-09-15 00:00:00
abstract：BACKGROUND:Many intervention studies in preterm infants aim to improve neurodevelopmental outcome, but short-term proxy outcome measurements are lacking. Cortical plate and subplate development could be such a marker. OBJECTIVE:Our aim was to provide normal DTI reference values for the cortical plate and subplate of p...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-010-1638-2
更新日期：2010-08-01 00:00:00
abstract：:Rib fractures are a common skeletal manifestation of non-accidental injury (NAI) in infants and young children and are generally considered to be highly specific for abuse. There are, however, relatively few descriptions of fractures involving the costochondral junctions in NAI. We present three children (two boys, on...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050436
更新日期：1998-09-01 00:00:00
abstract：:We present the CT and MRI findings of a patient with Chédiak-Higashi syndrome in the accelerated phase with marked white-matter abnormalities. Pathologic and clinical features allow diagnosis of this condition, which in this case had dramatic neuroradiographic manifestations not well described in previous reports. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050637
更新日期：1999-07-01 00:00:00
abstract：:Swallowed toothbrushes were noted in the esophagus of one teenager and the stomach of two others with bulimia. The presence of a toothbrush in the lumen of the gastrointestinal tract should make the radiologist suspicious of bulimia/anorexia nervosa. A toothbrush shows a characteristic radiographic image with parallel...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02018618
更新日期：1991-01-01 00:00:00
