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PubMed1996

Urinary tract abnormalities (UTA) and associated malformations: data of the Emilia-Romagna Registry. IMER Group. Emilia-Romagna Registry on Congenital Malformations.

An epidemiological study on the urinary tract anomalies (UTA) associated with other congenital malformations or syndromes ascertained by the Emilia-Romagna Registry on Congenital Malformations (IMER) among 209,882 consecutive births monitored during the period 1981-1990 is presented. UTA were ascertained in 349 infants for a rate at birth of 16.6 per 10,000 total births, or one case for every 600 births. The occurrence rate of UTA increased significantly during the ten years of monitoring passing from 6.1 per 10,000 in 1981-1982 to 25.1 in 1989-1990 (r = 0.85; p < 0.001). This increase is in connection with a progressively higher notification of isolated cases of UTA, directly related to the impact of the prenatal diagnosis. Among the 349 cases, 106 (30.4%) were associated with other conditions, including 18 who had chromosomal aberrations (ChrA). The incidence in the total number of the ChrA registered was 43.6 per 1,000. Genetic syndromes (GS) in 33 cases with a specific rate of 150 per 1,000, and 55 cases of multiples with a specific rate of 205.2 per 1,000. In multiples we observed some preferential associations of UTA with intestinal defects and severe ear defects (p < 0.001) and for Central Nervous System and heart defects (p < 0.05). UTA are often associated with other extrarenal defects and sometimes are a component of syndromes that are difficult to identify and for which genetic implications are great and genetic counselling necessary. Pediatricians need to be aware of the possible involvement of the kidney in specific and rare syndromes, and pediatric nephrologists must recognize the association of renal diseases with abnormalities in other physiological systems.

Abnormalities, Multiple↗
PubMed1992

Limitations of the OPCS congenital malformation notification system illustrated by examination of congenital malformations of the cardiovascular system in districts within the Trent Region.

Data are presented from OPCS notification statistics and other sources on rates of congenital cardiovascular malformations in the Trent Health Region and in its constituent Districts. While Trent in general, and some of its districts in particular, show high notification rates, other data sources suggest that the underlying malformation rate may not be raised compared with that seen nationally. Reasons for this discrepancy are discussed and the OPCS notification system is compared with that in Scotland.

Heart Defects, Congenital↗
PubMed1997

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

A 7 year old boy with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies, and severe mental retardation had deletion of the segment 4q24-->q26. His phenotypically normal father had a balanced insertion of that segment into the distal long arm of chromosome 6: 46,XY,ins(6;4)(q26;q24q26). Microsatellite loci flanking the RIEG gene on 4q25 were deleted giving indirect evidence of deletion of this locus. This finding and the normal ocular findings in the insertion carrier father show that haplotype insufficiency can cause the Rieger eye malformation.

Adult↗
PubMed1976

Cardiovascular malformations associated with congenital anomalies of the urinary system. Observations in a series of 453 infants and children with urinary system malformations.

Thirty-four (8%) of 453 infants and children with urinary system malformations had cardiovascular malformations. Cardiac defects were seen frequently in Potter syndrome, unilateral renal agenesis, and horseshoe kidney. The most frequently encountered types of heart defects were ventricular septal defect (33%), endocardial cushion defect (15%), tetralogy of Fallot (12%), and patent ductus arteriosus (12%).

Abnormalities, Multiple↗
PubMed2001

[Disabling malformations in Chile. Latin American Cooperative Study of Congenital Malformations (ECLAMC), 1982-1997].

BACKGROUND: The ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) is an epidemiological surveillance program for congenital defects that operates in Chile since 1969. AIM: To communicate the frequency of disabling congenital defects in Chile in the period 1982-1997. MATERIAL AND METHODS: A review of the ECLAMC registry, choosing 12 congenital defects: amelia, limb amputations, limb reductions, arthrogryposis, hip luxation and subluxation, spina bifida, hydrocephaly, microcephaly, cephalocele, talipes equinovarus, Down syndrome and multiple abnormalities. RESULTS: In the study period, 283,403 births occurred and 7,917 newborns were malformed (7,654 born alive and 263 stillbirths). The congenital defects prevalence rates appeared higher in Chile than in other Latin American countries, specially among stillbirths. Among the studied maternity hospitals, the Clinical Hospital of the University of Chile, showed the higher prevalence of congenital defects. Rancagua and the Navy Hospital in Valparaiso have a high frequency of Down syndrome. Global rates in Chile and in the rest of ECLAMC for specific defects, do not have significant differences, except for hip subluxation, that has a lower incidence in Chile. CONCLUSIONS: The ECLAMC allows to have a good knowledge of the prevalence of congenital malformations in Latin America.

Chi-Square Distribution↗
PubMedDate not supplied

Navigation-assisted sclerotherapy of orbital venolymphatic malformation: a new guidance technique for percutaneous treatment of low-flow vascular malformations.

Percutaneous sclerotherapy of orbital low-flow vascular malformations requires precise procedural guidance. For the treatment of a patient with an orbital venolymphatic malformation, we sought to optimize guidance by combining navigation assistance for needle placement with intralesional contrast medium injection for assessment of venous drainage. By using a surgical navigation system (Vector Vision, BrainLAB, Munich, Germany), multiplanar target lesion visualization was performed after fusion of CT and MR imaging data, which allowed precise puncture planning.

Adult↗
PubMed1984

[Malformation uropathies and multiple malformation syndromes].

The authors, from their experience emphasize the associated malformations' frequency in major congenital urinary tract malformations (26,9%). It is essential to recognize in these multiple defects some certified syndromes - inherited or not. The most associations are still unknown, nevertheless the genetic counselling require an accurate diagnosis.

Abnormalities, Multiple↗
PubMed2003

Dural arteriovenous malformation occurring after craniotomy for pial arteriovenous malformation.

The etiology of dural arteriovenous malformation (AVM) is still uncertain, and the occurrence of postoperative dural AVM has rarely been proved angiographically. The authors present a case of dural AVM in the jugular and the sigmoid sinuses, which developed 1 year after resection of a pial AVM via the craniotomy. A possible mechanism underlying this case of dural AVM is discussed.

Aged↗
PubMed2003

Scalp arteriovenous malformation draining into the superior sagittal sinus associated with an intracranial arteriovenous malformation: just a coincidence? Case report.

OBJECTIVE AND IMPORTANCE: Recent experimental and clinical evidence suggests that hemodynamic changes in the venous system can induce the formation of new arteriovenous malformations (AVMs). In a rat model, increased venous pressure induces the formation of soft tissue and dural AVMs. We report a clinical observation that may support these data. CLINICAL PRESENTATION: A 4-year-old boy with a midline scalp AVM draining into the superior sagittal sinus had an associated intracranial/parenchymal AVM. The cerebral AVM increased venous pressure in the superior sagittal sinus as revealed by angiography. INTERVENTION: The scalp AVM was resected, and the intracranial AVM was treated by use of the gamma knife. CONCLUSION: On the basis of reported experimental data and the morphological and hemodynamic characteristics in this patient's two lesions, we suggest that the scalp AVM might have been induced by hypertension in the superior sagittal sinus. This clinical observation supports the notion suggested by experimental studies that hemodynamic changes can induce the formation of associated AVMs.

Angiography, Digital Subtraction↗
PubMed1998

Bronchioloalveolar carcinoma arising in congenital cystic adenomatoid malformation in a child: a case report and review on malignancies originating in congenital cystic adenomatoid malformation.

A type I congenital cystic adenomatoid malformation (CCAM) in the left lower lobe was removed from a 11-year-old boy with a 3-month history of recurrent pneumonia. As incidental finding, a bronchioloalveolar carcinoma (BAC) was found in the lung parenchyma adjacent to the cyst. A left lower lobectomy was performed. At 18 months after surgery the patient is well and free of neoplastic disease. To the best of our knowledge, this association has not been reported previously in a pediatric patient. Malignancies complicating CCAM are rarely seen, but have been reported in adults. Including our case, eight cases of BAC and five cases of rhabdomyosarcoma (RMS) in association with CCAM have been reported so far. As CCAM can host metaplastic mucous cells, primitive mesenchymal cells and differentiated but poorly organized striated muscle fibers, it has been proposed that CCAM may act as a predisposing condition for oncogenesis. Our experience adds further support that CCAM can act as a premalignant lesion. Previous reports of both BAC and RMS in asymptomatic CCAM suggest prompt resection shortly after diagnosis.

Adenocarcinoma, Bronchiolo-Alveolar↗
PubMed2003

[Congenital malformations of the brain. 2: Malformations of the corpus callosum and holoprocencephalies].

The corpus callosum is formed between the 7th and the 20th gestational week. If this process is disrupted, partial or complete callosal agenesis may ensue. As large parts of the supra- and infratentorial brain are created during this critical period, associated anomalies need always to be searched for when callosal agenesis is present. Associations with neuro-genetic syndromes also exist. The corpus callosum is generally formed from front to back ("front-to-back rule"). Therefore, a partial callosal agenesis usually involves the posterior portion of the corpus callosum, while a secondary lesion of the corpus callosum does not follow this rule. Holoprosencephalies are a notable exception to this rule, as the frontal part of the corpus callosum is absent in spite of their classification as congenital malformations. They represent a disturbance of the differentiation and cleavage of the prosencephalon with a disruption of the separation of the cerebral hemispheres. Holoprosencephalies can be due to genetic causes, but also to intrauterine infections or other teratogenic causes. The holoprosencephalies are subdivided into alobar, semilobar and lobar holoprosencephalies. This article aims to describe the most important features of callosal agenesis and holoprosencephalies highlighting the respective imaging characteristics.

Abnormalities, Multiple↗
PubMed2003

Colonic arteriovenous malformation in a child misinterpreted as an idiopathic colonic varicosis on angiography: remarks on current classification of childhood intestinal vascular malformations.

A case of lower gastrointestinal hemorrhage in a child caused by an arteriovenous malformation (AVM) of the colon is presented. On diagnostic angiography, the lesion was misinterpretated as an idiopathic colonic varicosis because none of the characteristic features of an AVM were present. The role of angiography and shortcomings in nomenclature and classification of intestinal vascular anomalies in childhood are discussed.

Arteriovenous Malformations↗
PubMed1993

Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations.

Seventeen patients with symptomatic cerebral arteriovenous malformations (AVMs) were diagnosed between 1980 and 1990 in the Leeward Islands of the Netherlands Antilles. Five patients had multiple AVMs. The annual incidence of symptomatic AVMs was 1.1/100,000. The mean age of presentation was 35 years. In 6 patients cerebral AVMs were associated with hereditary hemorrhagic telangiectasia (HHT); 4 of these patients had multiple AVMs. We conclude that HHT is frequently encountered in Netherlands Antillians with symptomatic and multiple cerebral AVMs.

Adolescent↗
PubMed2000

Development of a model to predict permanent symptomatic postradiosurgery injury for arteriovenous malformation patients. Arteriovenous Malformation Radiosurgery Study Group.

PURPOSE: To better predict permanent complications from arteriovenous malformation (AVM) radiosurgery. METHODS AND MATERIALS: Data from 85 AVM patients who developed symptomatic complications following gamma knife radiosurgery and 337 control patients with no complications were evaluated as part of a multi-institutional study. Of the 85 patients with complications, 38 patients were classified as having permanent symptomatic sequelae (necrosis). AVM marginal doses varied from 10-35 Gy and treatment volumes from 0.26-47.9 cc. Median follow-up for patients without complications was 45 months (range: 24-92). RESULTS: Multivariate analysis of the effects of AVM location and the volume of tissue receiving 12 Gy or more (12-Gy-Volume) allowed construction of a significant postradiosurgery injury expression (SPIE) score. AVM locations in order of increasing risk and SPIE score (from 0-10) were: frontal, temporal, intraventricular, parietal, cerebellar, corpus callosum, occipital, medulla, thalamus, basal ganglia, and pons/midbrain. The final statistical model predicts risks of permanent symptomatic sequelae from SPIE scores and 12-Gy-Volumes. Prior hemorrhage, marginal dose, and Marginal-12-Gy-Volume (target volume excluded) did not significantly improve the risk-prediction model for permanent sequelae (p >/= 0.39). CONCLUSION: The risks of developing permanent symptomatic sequelae from AVM radiosurgery vary dramatically with location and, to a lesser extent, volume. These risks can be predicted according to the SPIE location-risk score and the 12-Gy-Volume.

Case-Control Studies↗
PubMed2002

Cystic adenomatoid malformation volume ratio predicts outcome in prenatally diagnosed cystic adenomatoid malformation of the lung.

BACKGROUND/PURPOSE: Cystic adenomatoid malformation of the lung (CAM) diagnosed in utero has a variable natural history that may result in hydrops in up to 40% or regress in up to 15%. No criteria have been available to determine which lesions would grow and develop hydrops versus those whose growth would stabilize or regress. To better understand the natural history of CAM the authors developed a measure of tumor volume normalized for gestation age, the CAM volume ratio, or CVR. The results of an initial retrospective review of CVR at presentation suggested its usefulness as a predictor of outcome in CAM. The authors now report the results of prospective use of the CVR both to track tumor growth and regression during gestation and confirm its predictive value in fetuses with CAM. METHODS: In the retrospective review performed between November 1998 and August 1999, 32 fetuses with CAM were reviewed and divided into those with hydrops and those in whom hydrops never developed. The CVR was determined by measuring 3 dimensions of the CAM using the formula for the volume of an ellipse and dividing by the head circumference to correct for differences in gestational age. Of the 32 fetuses in the retrospective study, the 8 that had hydrops had a significantly higher CVR (3.1 plus minus 1.1) compared with hydropic fetuses (0.74 plus minus 0.48; P <.001). The mean of the nonhydropic fetus's CVR plus 2 standard deviations (0.74 + 0.96 = 1.7) was used as a cutoff in the subsequent prospective study. From September 1, 1999 through March 1, 2001, the authors evaluated prospectively 58 patients with CAM by CVR measurement. These patients were followed up with serial ultrasound scans, and CVR at presentation correlated with the development of hydrops, survival, need for fetal intervention, and the need for ventilatory support or extracorporeal membrane oxygenation (ECMO), and length of hospital stay postnatally. The indication for fetal intervention was the development of hydops. RESULTS: The fetuses with CVR less-than-or-equal1.6 (n = 42) were considered to be at low risk for the development of hydrops, and those with CVR greater than 1.6 (n = 16) were considered at increased risk for developing hydrops. Of the 42 fetuses in the low-risk group, 7 (16.7%) developed hydrops, and all but 1 had a dominant cyst. If CAMs with a dominant cyst are excluded, only 1 of 36 (2.8%) of CAMs with CVR less-than-or-equal 1.6 developed hydrops (P <.001). In fetuses with CVR at presentation more than 1.6, 12 of 16 (75%; P <.005) developed hydrops. Seventeen fetuses underwent fetal treatment (8 CVR less-than-or-equal 1.6; 9 CVR > 1.6): 7 patients required open fetal surgery (survival rate, 2 of 7), 6 patients thoracoamniotic shunting (survival rate, 6 of 6); and 4 patients cyst aspiration (survival rate, 4 of 4). All survivors of fetal intervention required at a least brief period of ventilatory support; none required ECMO. CONCLUSIONS: A CVR of greater than 1.6 at presentation accurately predicts increased risk of hydrops developing in CAM. A CVR of less-than-or-equal1.6 at presentation suggests that the risk of hydrops developing in the absence of a dominant cyst is less than 3%. The CVR is a useful sonographic indicator of fetuses at risk for hydrops who require close ultrasound observation and possible fetal intervention.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1998

Proximal aneurysms in association with arteriovenous malformations: do they resolve following obliteration of the malformation with stereotactic radiosurgery?

One-hundred consecutive patients were identified who had arteriovenous malformations (AVMs) treated by stereotactic radiosurgery (STRS) which were totally obliterated as shown by follow-up angiography. Of these cases, seven had intracerebral aneurysms at initial angiography, two of which were multiple. Five patients had saccular aneurysms at commonly recognized sites on the circle of Willis or main proximal cerebral arteries, while two patients had aneurysms on distal AVM feeder arteries in atypical sites (one saccular, one fusiform). Saccular aneurysms at typical sites were found to be unchanged in size following AVM obliteration. The significance of this finding in the management of patients who present with subarachnoid haemorrhage and who have both aneurysms and AVMs is discussed.

Adult↗