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PubMed2004

Congenital pulmonary airway malformation (congenital cystic adenomatoid malformation) with multiple extrapulmonary anomalies: autopsy report of a fetus at 19 weeks of gestation.

Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum alpha-fetoprotein level.

Abortion, Eugenic↗

PubMed1995

Congenital diaphragmatic hernia: associated malformations--cystic adenomatoid malformation, extralobular sequestration, and laryngotracheoesophageal cleft: two case reports.

Two infants with unusual bronchopulmonary malformations associated with congenital diaphragmatic hernia (CDH) are presented. One infant had extralobular sequestration and cystic adenomatoid malformation of the lower lobe, in addition to a left-sided CDH. The second infant had a laryngotracheoesophageal cleft extending to the carina (type III) in addition to a left-sided CDH. These associated malformations can have major implications in terms of diagnosis, resuscitation, and surgical management of infants with CDH.

Abnormalities, Multiple↗

PubMedDate not supplied

[Congenital cystic adenomatoid malformation of the lung or congenital pulmonary airway malformation].

The cystic adenomatoid malformation of the lung is an hamartomatous lesion, easily identifiable by its morphology through the application of Stocker's et al (1977) classification (type 1, 2 and 3) and also following the criteria of Yousem, to understand the five types dependent on the level of malformation in the airway and lung. The three morphological types described by Stocker were identified in 6 cases of the archive of the Department of Pathology of Coimbra's University Hospital, studied morphologically by the use of Movat's pentachromic stain and the application of the antibody anti-CK7 and anti-body anti-TTF1. In the three morphological types the elastic alveolar net is absent. The CK7 identifies the epithelial distribution and is useful to evaluate the extension of the inflammatory lesion. The antibody anti-TTF1, apparently absent in type 3 cases, is easily identified in type 1 and 2 cases and overexpressed in inflammatory areas. It seems that the absence of cells identified by the antibody anti-TTF1 prevents overdiagnosing of type 4 in Yousem's classification of congenital pulmonary airway malformation (CPAM).

Adolescent↗

PubMed1996

Cerebral hyperemia after arteriovenous malformation resection is related to "breakthrough" complications but not to feeding artery pressure. The Columbia University Arteriovenous Malformation Study Project.

To study the pathophysiology of idiopathic postoperative brain swelling or hemorrhage after arteriovenous malformation resection, termed normal perfusion pressure breakthrough (NPPB), we performed cerebral blood flow (CBF) studies during 152 operations in 143 patients, using the xenon-133 intravenous injection method. In the first part of the study, CBF was intraoperatively measured (isoflurane/N2O anesthesia) during relative hypocapnia in 95 patients before and after resection. The NPPB group had a greater increase (P < 0.0001) in mean +/- standard deviation global CBF (28 +/- 6 to 47 +/- 16 ml/100 g/min, n = 5) than did the non-NPPB group (25 +/- 7 to 29 +/- 10 ml/100 g/min, n = 90); both arteriovenous malformation groups showed greater increase (P < 0.05) than did controls undergoing craniotomy for tumor (23 +/- 6 to 23 +/- 6 ml/100 g/min, n = 22). Ipsilateral and contralateral CBF changes were similar. In a second cohort of patients with arteriovenous malformations, CBF was measured at relative normocapnia and it increased (P < 0.002) from pre- to postresection (40 +/- 13 to 49 +/- 15 ml/100 g/min, n = 57). There were no NPPB patients in this latter cohort. The feeding mean arterial pressure was measured intraoperatively before resection or at the last embolization before surgery (n = 64). The feeding mean arterial pressure (44 +/- 16 mm Hg) was 56% of the systemic arterial pressure (78 +/- 12 mm Hg, P < 0.0001) and was not related to changes in CBF from pre- to postresection. There was an association between increases in global CBF from pre- to postresection and NPPB-type complications, but there was no relationship of these CBF changes to preoperative regional arterial hypotension. These data do not support a uniquely hemodynamic mechanism that explains cerebral hyperemia as a consequence of repressurization in hypotensive vascular beds.

Adult↗

PubMed2000

Type IV spinal arteriovenous malformation in association with familial pulmonary vascular malformations: case report.

OBJECTIVE AND IMPORTANCE: Type IVc arteriovenous malformations (AVMs) of the spinal cord consist of multiple high-flow feeding vessels, and they often present a challenging management situation. Their location is intradural and extramedullary, and they are rare malformations that are difficult to treat owing to the risk of thrombosis of the anterior spinal artery. The authors report a case of Type IVc spinal AVM in a patient with a family history of three siblings with pulmonary AVMs. Spinal AVMs have been reported to be associated with inherited syndromes such as familial cutaneous hemangiomas and Kartagener's syndrome, but an association with pulmonary AVMs has not previously been described. CLINICAL PRESENTATION: A 27-year-old man presented with sudden onset of occipital headache with cervical radiation while weightlifting. Results of computed tomography of the brain were normal, but lumbar puncture revealed a subarachnoid hemorrhage. The patient had a 1-year history of a neurogenic bladder and exhibited marked left calf muscle wasting. INTERVENTION: The patient underwent spinal magnetic resonance imaging, which revealed the AVM in the conus region. Selective spinal angiography was performed for diagnostic purposes. A laminectomy was performed, and the vessels feeding the AVM were clipped, as was the fistula. CONCLUSION: The patient remained neurologically stable, and angiography confirmed obliteration of the AVM. This is the first case report of a patient with a spinal AVM who had multiple siblings with pulmonary malformations or AVMs.

Adult↗

PubMed1992

Comparison of the clinical presentation of symptomatic arteriovenous malformations (angiographically visualized) and occult vascular malformations.

The authors compared the clinical presentations of angiographically apparent arteriovenous malformations (AVMs) and angiographically occult vascular malformations (AOVMs) of the brain in 188 consecutive patients treated when computed tomography and magnetic resonance were available. There were 133 patients (70.7%) with AVMs and 55 patients (29.2%) with AOVMs. AOVMs tended to occur more frequently in male patients and in the posterior fossa and to present earlier clinically than AVMs, but differences were not significant. One distinctive feature was the greater size of AVMs, as compared with AOVMs. Presentation by hemorrhage occurred in 64.3% of the patients with AVMs and in 61.8% of those with AOVMs. Malformations of both types located in the posterior fossa presented with hemorrhage more frequently (84.2% of AVMs and 78.5% of AOVMs) than similar lesions lying above the tentorium (60.8% of AVMs and 56% of AOVMs). Bleeding was more severe in patients with AVMs than in those with AOVMs, as indicated by the higher mortality associated with hemorrhage (7.5 vs. 3.6% of the cases) and the more frequent and marked decrease in the level of consciousness observed at admission (34 vs. 16.2% of drowsy or comatose patients). Brain hematomas caused by AVMs were on average bigger than those caused by AOVMs (58.8 and 20% of large hematomas, respectively), and intraventricular and subarachnoid hemorrhages were also more common and profuse in patients with AVMs. However, AOVMs bled subsequently more times than AVMs (61.7 vs. 15.6%), before they were diagnosed and treated, leading to a higher nonoperative morbidity (16.3 vs. 13.6%).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMedDate not supplied

[Choroidal type aneurysmal malformation of the vein of Galen associated with Dandy-Walker malformation in an adult].

Lasjaunias differentiated true vein of Galen aneurysmal malformations (MAVG), which drain to the median prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen, from the aneurysmal dilatations of vein of Galen (VGDA), which reveal venous drainage into a dilated vein of Galen, but already formed. In angioarchitectural terms, MAVG can still be divided in two subtypes: the mural form and the choroidal form, the most common. The authors describe the clinical case of a 18 years-old female, without symptoms until July 2001, who presented an episode of impaired equilibrium associated with vomits and non-specific vision disturbances. This episode had an approximate duration of 6-8 hours with complete recovery. Neuroimaging studies were performed including CT, MRI and digital angiography, disclosed an aneurysmal vein of Galen malformation of choroidal type and Dandy-Walker malformation, association that the authors couldn't found so far described in the literature.

Adolescent↗

PubMed1995

[The diagnosis of arteriovenous malformations of the brain by transcranial dopplerography (the dopplerographic semeiotics of arteriovenous malformations)].

The work is devoted to investigation of possible use of transcranial dopplerography as a method of noninvasive diagnosing of arteriovenous malformations of the brain. An analysis of results of investigations in 89 patients with suspected arteriovenous malformations was made. A close correlation is confirmed between the parameters of the blood flow and the volume, diameter and type of the structure of the supplying arteries. Transcranial dopplerography was shown to allow the detection of arteriovenous shunts in the brain vessels which is one of main symptoms of the arteriovenous malformations.

Adolescent↗

PubMed1990

Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations.

Genetic predisposition in congenital heart disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited. Theoretical background and experimental and clinical data are reviewed and discussed.

Consanguinity↗

PubMed1991

Concordance of auriculo-cardiovascular-skeletal malformations: a new malformation complex in an infant of a diabetic mother?

The incidence of malformations among infants of diabetic mothers (IDM) is known to be higher than in the general population. These malformations usually involve several organ systems and in the past few years there has been an attempt to group them into distinct "syndromes." The present report concerns a child with a specific constellation of findings not yet reported in the infant of a diabetic mother, and we urge our colleagues to look for other associations existing in these infants, rather than just listing series of individual malformations.

Abnormalities, Multiple↗

PubMed1983

Caffeine-induced limb malformations: description of malformations and quantitation of placental transfer.

Caffeine was administered intraperitoneally to CD-1 mice on days 11 and 12 of pregnancy at doses of 80-250 mg/kg. A dose-related pattern of malformations was seen that included mainly cleft palate, limb malformations, and hematomas. Many of the limb malformations were examined in preparations stained for cartilage and bone and a number of unique structural arrangements were found. As in previous studies, an asymmetric response was seen, the left limbs being affected more often than the right. Transplacental passage of caffeine was also studied. Caffeine and many metabolites pass into the embryo and attain concentrations slightly below those in maternal plasma. A peak caffeine concentration of 1 mM is attained after a teratogenic dose, which is at least an order of magnitude greater than that of any of the metabolites.

Abnormalities, Drug-Induced↗

PubMed1997

Maternal diabetes and fetal malformations: a case associating cardiovascular, facial and skeletal malformations.

Maternal diabetes is known to be a condition associated with a high frequency of fetal malformations. However, pathogenic factors for these malformations and their possible classification into different entities are not yet well established. We present the case of an infant born to a diabetic mother and affected by several malformations. This report consolidates different hypotheses put forward in recent years.

Abnormalities, Multiple↗

PubMed2006

Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations.

The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded in a pre-designed questionnaire for analysis; sex, ethnicity, type of GIM and associated anomalies. The overall prevalence rate of gastrointestinal malformations was 10 per 10,000 births. The imperforate anus (5 per 10,000) was the commonest birth defect in gastrointestinal tract. The prevalence rate of GIM was 8.2 per 10,000 in males and 10.7 per 10,000 in females. According to the parental ethnicity, the prevalence rates of GIM were 6.7, 15.8 and 17.6 per 10,000 in Fars, Turkman, and Sistani, respectively. There were eight cases (21%) with associated anomalies. The prevalence rate of GIM in North of Iran is not similar to the previous studies in Iran and Middle East and ethnic background may be a causative factor in the rate of GIM in this area.

Digestive System Abnormalities↗

PubMed2005

Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.

PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. METHODS: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. CONCLUSIONS: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.

Cerebellum↗

PubMed2000

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.

Hyperkeratotic capillary-venous malformations (HCCVMs) are rare cutaneous lesions that occur in a small subgroup of patients with cerebral capillary malformation (CCM). CCMs cause neurological problems that range from headaches to life-threatening intracranial bleeding. CCMs and HCCVMs have a similar histopathological appearance of dilated capillary-venous channels. Genetic linkage of inherited CCMs has been established to three chromosomal loci, 3q25. 2-27, 7p13-15 and 7q21-22. The first mutations were identified in the CCM1 gene (located on 7q21-22), which encodes KRIT1 protein (KREV1 interaction trapped 1), presumably a membrane-bound protein with signalling activity. Although KRIT1 is known to interact with KREV1/RAP1A, a Ras-family GTPase, the exact function of KRIT1 in the formation of cerebral capillaries and veins is poorly understood. In this study, we screened five families with CCM for mutations in the KRIT1 gene. In one of the families, CCMs co-segregated with HCCVMs. We identified a KRIT1Delta(G103)mutation in this family, suggesting that this rare form of the condition is also caused by mutations in the CCM1 gene and that KRIT1 is probably important for cutaneous vasculature. Interestingly, this deletion introduces the earliest stop codon among identified mutations, suggesting a possible correlation between the molecular alteration and the cutaneous phenotype. Another novel mutation, KRIT1(IVS2+2(T-->C)), was found in a family with only cerebral capillary-venous malformations.

Brain↗

PubMed2005

A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases.

PURPOSE: To describe a distinct asymmetrical pattern of cortical malformation with large focal malformations of cortical development (MCDs) and contralateral periventricular nodular heterotopia (PNH). METHODS: We identified three patients with epilepsy and focal EEG abnormalities. Each patient underwent 1.5-Tesla magnetic resonance imaging (MRI) to obtain sagittal T1-weighted, axial fluid-attenuated inversion recovery (FLAIR), fast spin-echo (FSE) T2-weighted, and coronal fast spin-echo inversion recovery (FSEIR) T2-weighted images; coronal spoiled gradient recalled (SPGR) T1-weighted images were obtained in two cases. RESULTS: Patient 1, an 18-year-old right-handed man, had a 4-year history of intractable seizures. MRI revealed a right frontal subcortical heterotopia (SH) and a single left anterior PNH. Patient 2, a 10-year-old left-handed boy, had a 4-year history of epilepsy. MRI revealed a large region of SH in the left temporal, parietal, and occipital lobes and three right-sided PNH. Patient 3, a 16-month-old girl, had medically refractory infantile spasms. MRI revealed a large MCD in the left parietal lobe with contiguous underlying periventricular heterotopia as well as a small contralateral PNH. CONCLUSIONS: These cases together illustrate a distinct asymmetrical pattern of a large focal MCD with small contralateral PNH. The asymmetrical involvement of the two hemispheres suggests that the stage of maximal disruption of cortical development may differ between the two hemispheres. Further study into the mechanisms underlying such asymmetrical patterns of cortical malformation should enhance our understanding of cortical development as well as hemispheric lateralization.

Adolescent↗

PubMed1982

Duplication of the müllerian ducts and genitourinary malformations. Part II: analysis of malformations.

Forty-seven females with duplication of the uterus and cervix were retrospectively studied to obtain a better understanding of the reasons for failure of fusion of the müllerian ducts by analyzing the associated genitourinary malformations. Thirty-one of the 47 patients had major genitourinary malformations that corresponded to three main complexes of anomalies. Cloacal anomalies were present in 16 patients, exstrophy in two, and combined cloacal and exstrophic deformities in another two. Renal malformations ipsilateral to a unilateral occluded müllerian duct were seen in 11 patients, and in four of these an ectopic ureter opened into the occluded duct. From the analysis of these anomalies it is proposed that duplication of the female genital system, when not an isolated event, may be secondary to interference of the normal process of müllerian fusion by a persistent cloacal duct, an abnormal pelvic girdle, or an ectopic ureter.

Abdominal Muscles↗

PubMed1990

Is there an association between fetal viral infection and fetal malformation? I. Detection of specific IgM antibodies in the serum of malformed fetuses.

Determinations of IgG and IgM antibodies specific for cytomegalovirus (CMV), herpes simplex virus (HSV1), herpes simplex virus (HSV2), varicella-zoster virus (VZV), rubella, echo, Coxsackie and morbilli viruses were performed in 20 sera from malformed fetuses. Demonstration of a fetal infection by increased fetal serum IgM permits linkage to a detected fetal malformation. In parallel, 14 maternal sera and 17 amniotic fluid samples were examined. Laser nephelometry (a quantitative method) was used for the determination of IgM and IgG class immunoglobulins. None of the fetal sera were found to contain IgM class antibodies specific for the viral antigens studies. While IgM CMV-specific antibodies were present in one maternal serum, the specific IgM was absent in the fetus. The absence of specific IgM antibodies appears to warrant the conclusion that the malformed fetuses were uninfected by any of the above viruses. IgM antibodies were detected in two fetal sera by quantitative methods. The IgM antibodies present in two fetuses probably were generated in response to some other introduced antigen.

Antibodies, Viral↗