Diffuse cystic malformation and neoplasia-associated cystic formation in the stomach. Endosonographic features and diagnosis of tumor depth

We have evaluated the endoscopic ultrasonography (EUS) features of cystic malformation of the stomach and the depth of associated neoplasia. We included 15 patients with multiple cystic components identified on EUS: 6 patients with multiple cysts restricted focally to gastric neoplasia and 9 patients with diffusely distributed cysts. We categorized the former findings as focal cystic malformation (FCM), and the latter as diffuse cystic malformation (DCM) of the stomach and reviewed the endosonographic features. Both FCM and DCM tended to show male preponderance and develop in older patients. Cystic changes in FCM extended from the neoplastic lesion to the submucosa regardless of the location in the stomach. Diffuse cystic malformation was located predominantly in the gastric body and mainly was shown as the thickened submucosa and/or deep mucosa with multiple cystic components. The boundary between the mucosal layer or the tumor echo and the submucosal layer was indistinct in eight patients, which led to a lower accuracy in EUS diagnosis of tumor depth. Diffuse cystic malformation has characteristic EUS features and occasionally is accompanied by gastric neoplasia. Endoscopic ultrasonography is inaccurate in determining tumor depth when multiple submucosal cysts are present.     

Diffuse pulmonary arteriovenous malformation in a child with polysplenia syndrome

Pulmonary arteriovenous malformation (PAVM) is usually seen as a well-circumscribed cystic mass. In this communication we describe a diffuse arteriovenous malformation in a 5-month-old infant. The lesion was seen only at the microscopic level and was associated with abdominal heterotaxy, atrial situs solitus, polysplenia, interrupted inferior vena cava, atrial septal defect, and atrioventricular canal. This uncommon association may be within the spectrum of polysplenia syndrome.     

Simple choristoma of the anterior segment containing brain tissue

We report an unusual case of a simple choristoma of the anterior segment that contained only brain tissue. The clinical characteristics and findings of pathological examination of this unusual ocular malformation were reviewed. A newborn girl was seen with a fleshy, highly vascular cystic mass arising from the inferior limbus and extending across the cornea. On a computed tomographic scan, gross disruption of the anterior segment was present, with subluxation of the lens into the cyst. Excision of the abnormal tissue was followed by evisceration; polyglactin (Vicryl) ball implantation; patch graft of the globe; and, later, prosthetic fitting. Pathologic findings showed a choristomatous malformation, containing only mature brain tissue. To our knowledge, a choristoma in which the sole constituent is brain tissue has not previously been reported.     

Chiari malformations and hydrosyringomyelia

INTRODUCTION: The association of hindbrain herniation, better known as Chiari malformation, and cystic cavitation of the spinal cord or hydrosyringomyelia has been well described in the literature although there is little consensus regarding its etiology, pathophysiology or optimal treatment. DEVELOPMENT: Despite a well-accepted and utilized classification system of both Chiari malformation and hydrosyringomyelia, there remains considerable disagreement regarding the proper management of these patients. CONCLUSIONS: This article reviews several popular theories on the etiology and pathophysiology of this disorder, briefly discusses the clinical features and radiologic findings associated with Chiari malformation and hydrosyringomyelia, and reviews basic surgical techniques for decompression of the cranial-cervical junction and treatment of the hydrosyringomyelia.     

Cystic duplication of ejaculatory duct: case report

A case of complex malformation of the genito-urinary tract, including cystic dilatation and partial duplication of the ejaculatory duct is reported. The lesion was visible on retrograde and anterograde vasovesiculography; its complete removal was possible using an abdominal approach.     

Prefabricated flaps for the head and neck: a preliminary report

Three cases of diffuse subcortical gray matter heterotopias in children are reported. Generalised seizures and mild mental retardation were the most frequent signs. No specific electroencephalographic pattern was recognized. Magnetic resonance imaging scans showed the thick diffuse layer of heterotopic gray matter which was surrounded by normal white matter. Gyration was normal, and no associated malformation was observed. This neuronal migrational disorder happens between the 10th and 16th gestational week. Nineteen observations (17 girls) are reported in the literature. The filiation with agyria-pachygyria and the possible genetic transmission are discussed.     

Successful outcome with serial amniocenteses for polyhydramnios complicating cystic adenomatoid malformation of the lung

Hydrops fetalis secondary to congenital cystic adenomatoid malformation of the fetal lung is almost invariably a lethal condition. This poor prognosis may be attributed to the combined effects of tissue compression from the thoracic space occupying lesion and premature delivery of a hydropic baby following rupture of the membranes in the presence of polyhydramnios. We describe a successful outcome with serial amniocenteses. Partial in utero resolution of the lung lesion with complete return to normal of the aberrant liquor volume was documented, and a live infant was delivered at term.     

A case of Caroli's disease: usefulness of color Doppler sonography for evaluating the malformation of the intrahepatic bile ducts

Caroli's disease is a rare congenital disorder with multiple cystic dilatations of the intrahepatic bile ducts. In addition to the nonobstructive localized dilatation of the bile ducts, intraluminar bulbar protrusions of the wall and bridge formation across dilated lumina have been demonstrated on sonography and computed tomography. We present a case in which color Doppler sonography clearly showed a blood flow signal toward the periphery of the liver in the protrusion of the dilated intrahepatic bile ducts. Color Doppler sonography is a useful noninvasive method for evaluating the malformation of Caroli's disease.     

Ion/ion proton-transfer kinetics: implications for analysis of ions derived from electrospray of protein mixtures

Adenomyosis of the uterus is most often seen as focal or diffuse thickening of the myometrial junctional zone on MRI. We describe the morphologic features and signal characteristics of the rarer cystic form of the disease, as revealed by MRI. We conclude that cystic adenomyosis of the uterus is characterized by a well-circumscribed cystic lesion within the myometrium that demonstrates hemorrhage in differential stages of organization on MR images.     

Extralobar pulmonary sequestration mimicking cystic adenomatoid malformation in prenatal sonographic appearance and histological findings

An infant girl with extralobar pulmonary sequestration (PS) composed of congenital cystic adenomatoid malformation (CCAM)-like structure is presented. Initially, the antenatal sonographic findings indicated CCAM. The macroscopic findings of the resected specimen were compatible with extralobar PS; however, the microscopic findings showed cystic structure mimicking type II CCAM. The combination of PS and CCAM is rare, and it is likely that the embryological origin is common to both. There is confusion in the classification of these two congenital anomalies. In this report, the histological and sonographic findings of PS and CCAM are discussed.     

Isolated agenesis of the gallbladder. An intraoperative problem

Agenesis of the gallbladder and cystic duct is a rare congenital malformation. In 40-70% of cases this anomaly is associated with other gastrointestinal, skeletal, cardiovascular and genitourinary malformations. Lithiasis of the common bile duct is present in 25-50% of cases. In the majority of cases patients are asymptomatic or have symptoms compatible with a biliary disorder. A preoperative diagnosis is extremely difficult and the absence of the gallbladder is often an intraoperative finding. The authors report a case of isolated agenesis of the gallbladder. The relative embryology, development, diagnostic pitfalls, intraoperative behaviour and therapeutic strategies are discussed.     

Cystic dilatation of the common bile duct

The Authors report a case of cystic dilatation of the common bile duct and a review of the Literature. The lesion is a congenital malformation of infancy or childhood, being rare in adult life. The main symptoms are biliary colic with jaundice and fever. Modern techniques such as abdominal ultrasonography, CT, ERCP, PTC generally provide to achieve preoperative diagnosis. When radical surgery is possible the complete excision of the cyst is the management of choice. The case reported is classified as type 1 of Todani's classification. Surgical management consisted in a complete excision of the cyst. Bile flow was re-established by hepaticojejunostomy.     

Disseminated intra-abdominal cystic lymphangiomatosis with severe intestinal bleeding. A case report

We describe cystic lymphangiomatosis with intestinal bleeding developing multiple lymphangiomas in the small intestine, mesentery, mesocolon, omentum, retroperitoneum, and spleen. Small intestinal fluorography showed multiple polypoid lesions, mainly in the jejunum. Ultrasonography, computed tomography, and magnetic resonance imaging showed diffuse cystic tumors in the mesentery and spleen. Cystic lymphangiomatosis was proved by histologic findings of the biopsied specimen at laparotomy.     

Late reopening of patent ductus arteriosus after complete closure with the Rashkind prosthesis. Possible traumatic origin

We report a rare case of tracheal atresia, without fistula, in a 19 weeks' female fetus. The abnormality was detected by prenatal ultrasonography, which demonstrated a bilateral and uniform hyperechogenicity and enlargement of the lungs, associated with ascites and moderate oligohydramnios. We suggest that oligohydramnios may be helpful in distinguishing the upper respiratory tract obstruction from congenital cystic adenomatoid malformation of the lungs, type III. A morphometric study revealed a three-fold more dense pulmonary vasculature in comparison with two control cases of the same gestational age. The pathological finding of pulmonary and vascular hyperplasia as well as the pathophysiology of the syndrome are discussed.     

Ectopic neuroglial tissue associated with intrapulmonary congenital cystic adenomatoid malformation

BACKGROUND: Few cases of ectopic neurological tissue have been reported in the lung. The aim of the present study was to give a brief overview of these cases and to examine an additional case of intrapulmonary neuroglial heterotopia. We have identified only sixteen similar cases in the literature. CASE DESCRIPTION: The object of our study was a male fetus of Asian parents at the 23rd week of gestation, in which ultrasound tests revealed the presence of anterior encephalocele. Routine postmortem examination of lung samples showed neuroglial tissue and a congenital adenomatoid cystic malformation of type II. The lesion was made up of multiple small cysts lined with columnar or ciliated cuboidal epithelium. A possible link between adenomatoid malformation and intrapulmonary neurological tissue has not so far been reported in the literature. Immunohistochemical analysis showed the presence in the pulmonary parenchyma of neuronal cells (neuron-specific enolase positive), astrocytes (glial fibrillary acidic protein positive) and intra-alveolar squamous cells (citokeratines positive), indicative of fetal aspiration of amniotic fluid. CONCLUSIONS: There are several possible explanations for the presence of intrapulmonary neuroglial heterotopia: fetal aspiration, neural crest migration defects or vascular embolization with implantation. However, in the view of the microscopic findings and at the same time recognizing the intrapulmonary aspiration of amniotic fluid, the authors maintain that the most likely explanation for the heterotopia is that of consequential multiple malformations. Moreover neuroglial ectopy and cystic adenomatoid congenital malformation of the lung could have appeared simultaneously, due to embryologic insult between the 4th and the 20th week of gestation.     

Pulmonary disorders in infants

Pulmonary disorders in infants are intimately related to the pulmonary development during the antenatal, neonatal and infantile period. In this review, normal pulmonary development is considered and several pulmonary disorders such as pulmonary hypoplasia, pulmonary sequestration, congenital cystic adenomatoid malformation, hyaline membrane disease, bronchopulmonary dysplasia, Wilson-Mikity syndrome and perinatal pneumonia are presented in light of the current literature.     

Systemic amyloidosis in cystic fibrosis

We report two siblings with cystic fibrosis and systemic amyloidosis. The major clinical problem in both cases was recurrent respiratory infection with pulmonary fibrosis and bronchiectasis prior to death at ages 20 and 22 years. Findings from postmortem examinations disclosed diffuse amyloidosis. In addition, amyloid infiltration developed in both patients, with enlargement of the thyroid gland, and one required thyroidectomy. An autopsy review of 17 additional cases of cystic fibrosis failed to disclose any other instances of systemic amyloidosis.     

The identification of the best thrombolytic. Reflections on a problem without resolution

A rare diffuse arteriovenous malformation (AVM) occurred in an 11-year-old boy with a 4-year history of transient ischemic attacks and weakness of the left extremities. Postcontrast computed tomography (CT) showed cord-like enhancement in the corpus callosum and pineal region. Magnetic resonance (MR) imaging demonstrated atrophy of the right hemisphere and multiple signal voids in the sulci. Cerebral angiography showed a diffuse AVM fed by the bilateral anterior cerebral and right middle cerebral arteries. The AVM nidus consisted of scattered nidi. Several draining veins appeared as multiple signal voids on MR images. No surgery was possible because of the scattered nidi. Left hemiparesis and mental retardation worsened, with progressive atrophy of the right hemisphere on serial MR images. Follow-up radiological examinations showed that the number of nidi increased, the draining vein enlarged, and the gyri calcified. The gyriform calcification on CT scans strongly resembled that seen in Sturge-Weber syndrome.     

A case report of glomerulocystic kidney disease with hypothyroidism in a new born infant

We report a rare case of glomerulocystic kidney disease (GCKD) with congenital hypothyroidism. A gigantic abdominal mass was noted at birth. There was no family history of renal cystic disease. Ultrasonography revealed diffuse granular cysts in the markedly enlarged kidneys. Blood examination showed moderate renal failure and hypothyroidism. Bilateral nephrectomy was conducted at 47 days of age to relieve respiratory failure and severe abdominal distention caused by the growing cystic kidneys. Histological findings of the kidney showed numerous glomerular cysts without renal dysplasia. There were no other malformations. These findings were compatible with GCKD.     

Decreased seizure threshold and more rapid rate of kindling in rats with cortical malformation induced by prenatal treatment with methylazoxymethanol

In humans, cortical malformations are highly epileptogenic. In rats, prenatal treatment with methylazoxymethanol (MAM) cause a diffuse cortical malformation that is yet not associated with seizures. We performed rapid hippocampal kindling in MAM and control rats. We show that MAM rats present (i) a lower initial afterdischarge threshold; (ii) a more rapid progression to generalized seizures. We conclude that MAM rats may serve as models for human epileptogenic cortical malformations.