Pancreatic Pathology in Trisomy 13: Specificity of the Morphologic Lesion

Pancreases from 8 patients with trisomy 13 were studied Ectopic splenic tissue was present in 6: 3 had accessory spleens and ectopic splenic tissue embedded in the pancreas, one had intrapancreatic splenic tissue without an accessory spleen, and one had an accessory spleen without intrapancreatic splenic tissue. The intrapancreatic splenic tissue was multiple, generally poorly or nonencapsulated, and contained pancreatic acini, islets of Langerhans, and ducts lined by tall columnar epithelium with goblet cells. The rest of the pancreas in these and other cases of trisomy 13 had microcyst formation and focal proliferations of small ducts similar to those seen in the splenic tissue. This constellation of features appears to be distinctive of trisomy 13.     

Pancreatic pathology in trisomy 13: specificity of the morphologic lesion

Pancreases from 8 patients with trisomy 13 were studied. Ectopic splenic tissue was present in 6: 3 had accessory spleens and ectopic splenic tissue embedded in the pancreas, one had intrapancreatic splenic tissue without an accessory spleen, and one had an accessory spleen without intrapancreatic splenic tissue. The intrapancreatic splenic tissue was multiple, generally poorly or nonencapsulated, and contained pancreatic acini, islets of Langerhans, and ducts lined by tall columnar epithelium with goblet cells. The rest of the pancreas in these and other cases of trisomy 13 had microcyst formation and focal proliferations of small ducts similar to those seen in the splenic tissue. This constellation of features appears to be distinctive of trisomy 13.     

The spectrum of splenogonadal fusion

Splenogonadal fusion is a rare congenital malformation in which there is an abnormal fusion between the spleen and the gonad or derivatives of the mesonephros. It can occur in both sexes but has been reported far more frequently in males. There are two types of this malformation: the continuous and the discontinuous type, depending on the presence or absence of a structural connection between the regular spleen and the ectopic splenic tissue that is fused to the gonad. In one-third of all reported cases splenogonadal fusion is associated with other congenital defects. This association is predominantly found within the continuous type. Peromelia is present in a high percentage of cases, varying from total absence of all limbs to absence of parts of the lower limbs.On the basis of a case report and a review of 84 published cases, the causal, pathogenetic and nosologic aspects of this malformation are discussed. We hypothesise that splenogonadal fusion with peromelia and splenogonadal fusion without peromelia represent two ends of one spectrum determined by the developmental stage during which the causal factor acts.     

Non-traumatic surgical pathology of the spleen in children (excluding acute injuries)

The non traumatic surgical pathology of the spleen in childhood is reviewed. This pathology is rare and gives various and generally misleading symptoms. Part of this pathology is of congenital origin ie: torsion of ectopic spleen, multiple and accessory spleens, syndrome of polysplenia, splenogonadal fusion. The acquired pathology includes tumors, cysts, abscesses, spontaneous rupture of the spleen, splenosis and massive enlargements as in Gaucher disease. Because of the role of the spleen in the immune defense system and the risk of overwhelming postsplenectomy infection the surgical treatment must always be as much conservative as possible.     

Torsion of wandering spleen: The whorled appearance of the splenic pedicle on CT

Congenital deficiency or acquired laxity of the suspensory ligaments of the spleen may result in extreme splenic mobility. This rare condition, which is termed wandering or ectopic spleen predisposes the elongated splenic pedicle to torsion. We present a case of splenic torsion with a new CT finding consisting of a whorled appearance of the splenic pedicle. To our knowledge this finding has not been described before.     

Sonographic and CT features of splenogonadal fusion

Splenogonadal fusion is a rare congenital anomaly characterized by fusion of splenic tissue to the gonad. Although more than 150 cases have been described in the literature, there are only anecdotal reports of the diagnosis of this entity before surgery. Preoperative recognition of this anomaly permits avoidance of radical surgical procedures such as orchiectomy. The radiological literature regarding this condition is scant. We report the imaging findings in a child with splenogonadal fusion, where sonography and contrast-enhanced spiral CT permitted characterization of the lesion and delineation of the vascular supply to the aberrant splenic tissue and the testis.     

Splenosis simulating an abdominal lymphoma

Splenosis, an autograft of splenic tissue, may occur after a traumatic spleen rupture or splenectomy. Usually asymptomatic, this pathology may uncommonly produce symptoms which justify radiologic investigations. We are presenting the case of a young boy with a Wiskott Aldrich syndrome and who developped splenosis simulating an abdominal lymphoma.     

Congenital chylothorax in a patient with 21 trisomy syndrome

A female infant with 21 trisomy syndrome associated with congenital chylothorax was reported. She was born at a gestational age of 34 weeks by Cesarean section because of fetal hydrothorax and hydrops fetus, confirmed by ultrasonography at 32 weeks. Emergent resuscitation and immediate thoracentesis were performed soon after birth. After beginning breast feeding, the serous pleural fluid became opalescent and a diagnosis of congenital chylothorax was made. Feeding was changed to medium-chain triglyceride (MCT) feeding and the production of pleural effusion disappeared after thoracentesis was performed several times. Accumulating evidence suggested that MCT feeding and intermittent thoracentesis under echo guide were effective. Some reports on patients, including this one, suggest that there may be more patients with 21 trisomy associated with congenital hydrothorax. Therefore, congenital hydrothorax might be listed as a complication of 21 trisomy.     

Splenorenal fusion in a 26-month-old girl

Occasionally, heterotopic splenic tissue can occur in the renal fossa secondary to splenosis following splenic trauma or splenectomy. Rarely, it can represent a developmental anomaly secondary to fusion of splenic and renal tissues. Splenorenal fusion can present as a renal mass, mimicking primary or secondary renal neoplasm on imaging studies, or with symptoms of hypersplenism (anaemia). To our knowledge, only seven cases of splenorenal fusion have been previously reported and the present case is only the second presentation in a young child. We report a case of splenorenal fusion in a 26-month-old girl with symptoms of hypersplenism and an abdominal mass associated with a ventricular septal defect, an umbilical hernia and a previous congenital dislocation of the hip.     

Interest of laparoscopy in polysplenia syndrome.

Polysplenia syndrome (PS) is usually discovered in symptomatic patients in association with congenital heart disease or biliary atresia. Asymptomatic patients can present associated anomalies of the digestive tract such as intestinal malrotation and gastric or splenic malfixation. We report a case of PS presenting as a left flank mass shown to be an accessory spleen by denatured red blood cell scintigraphy. Upper gastrointestinal tract studies showed intestinal malrotation. Laparoscopic exploration confirmed intestinal malrotation and showed the absence of fixation of the accessory spleen. We performed a laparoscopic Ladd's procedure followed by fixation of the accessory spleen and resection of Meckel's diverticulum through a short left-flank incision.     

Vanishing spleen after Nissen fundoplication: a case report

Nissen fundoplication is a generally accepted treatment for severe gastro-oesophageal reflux after conservative management has failed. The surgical techniques and the complications that may develop following the operation have been well described. However, necrosis of the spleen is a rare complication. We report here a patient with Down syndrome with a vanishing spleen after a Nissen fundoplication, who died of overwhelming pneumococcal septic shock 7 months after the operation. Vascular anomaly in Down syndrome, inadvertent ligation of the splenic artery or volvulus of the spleen may have caused a compromised splenic arterial circulation.Conclusion Nissen fundoplication may be associated with vanishing spleen and, consequently, with devastating consequences.     

Transient myeloproliferative disorder in chromosomally normal newborn infant

Transient myeloproliferative disorder is a condition clinically resembling congenital acute myelogenous leukemia. As in acute leukemias the blast cell population in this disorder may have either normal or abnormal chromosomal complement. Transient myeloproliferative disorder is well recognized in neonates with a complete or mosaic trisomy 21 (Down's syndrome). We report a phenotypically and cytogenetically normal infant with this syndrome in whom only blast cells showed trisomy 21. We postulate that the pathogenesis of the transient myeloproliferative disorder in both Down's syndrome infants and those with a normal chromosomal complement is related to abnormal prenatal production of placental regulatory hemopoietic factors caused by chromosomal defect(s) confined to placental tissues.     

Use of Fluorescent in Situ Hybridization to Detect Trisomy 13 in Archival Tissues for Cytogenetic Diagnosis

The present report describes the use of molecular probes to investigate the chromosomal constitution of interphase nuclei of formalin-fixed, paraffin-embedded tissue from three infants with multiple congenital malformations and a provisional diagnosis of trisomy 13 in two. Fluorescent in situ hybridization with the probe for the 13 and 21 centromeric regions revealed five nuclear signals in two of the cases, indicating the presence of an extra chromosome, and only four nuclear signals in the other case. Only the two positive cases had phenotypic features consistent with trisomy 13. Routine cytogenetic analysis was performed on one child and confirmed an additional chromosome 13. The child without an extra chromosome had features consistent with Ivemark syndrome. This study demonstrates the utility of fluorescent DNA probes for the retrospective diagnosis of aneuploidies in archival material.     

Regeneration of autotransplanted splenic tissue is not proportional to total weight and size of transplanted fragments

Young minipigs were used as a model for splenic autotransplantation in children. After splenectomy about 7% of the spleen was implanted in the greater omentum either as a single slice or as three small slices. Six months later there was no difference in the amount of regenerated splenic tissue or lymphocyte content between these two groups. The regenerated tissue weighed 3.98±1.9 g, which is not less than after whole spleen transplantation and is only about 6% of the splenic weight of control minipigs. The regenerated splenic tissue contained only about 3% of normal splenic lymphocyte numbers. Based on data from the literature on splenic regeneration in man and on the present experiments in animals, about 10% of the traumatized spleen seems to be sufficient for splenic regeneration after intraomental implantation. Offprint requests to: R. Pabst     

Incidence of cryptorchidism and ascending testes in Trisomy 21: a 10 year retrospective review

Children with Down syndrome have an increased risk of cryptorchidism, but the reported incidence is unclear. In a proportion of these children, the testes are within the scrotum at birth but later appear to have ascended to an ectopic position. Records of patients diagnosed with trisomy 21 who had surgery for undescended testes in two tertiary paediatric centres over a 10-year period were examined. Information on liveborn males with Down syndrome was obtained from the Victorian Genetic Registry, and then the incidence of congenital and acquired undescended testes was determined. The incidence of undescended testes in Down syndrome was found to be 6.52% (24/368), with 4.35% (16/368) being acquired undescended or ascending testes. In conclusion, there is an increased incidence of cryptorchidism in Down syndrome; in particular, there is a significant proportion of acquired undescended testes.     

Nonimmune Hydrops Fetalis in the Liveborn: Series of 32 Autopsies

Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among 429 neonates who underwent autopsies (incidence 7.45%). Sixteen cases (50%) had cardiovascular disease; all were due to low output cardiac failure; 7 had structural congenital heart disease. Three of the children with congenital heart disease also had chromosomal abnormalities: 2 had trisomy 18 and 1 had Noonan syndrome. Among myocardial conditions were five subjects with cardiomyopathies (1 of each of the following types): oncocytic, dilated, endocardial fibroelastosis, cardiac glycogenosis, and carnitine deficiency; 3 had myocarditis, and 1 had cardiac rhabdomyomas. Congenital infections were due to cytomegalovirus in 3 cases, bacteria in 2, and parvovirus in 1. The mechanism of NIHF in these cases might be a combination of decreased myocardial contractility due to myocarditis and fetal anemia. Genitourinary diseases were present in 5 newborns: Two had congenital nephrotic syndrome, 1 had VACTER association, 1 had prune-belly syndrome, and 1 had urogenital sinus malformation. Intrathoracic lesions were found in 2 babies (pulmonary sequestration and diaphragmatic hernia). One twin died of volume overload due to twin transfusion syndrome. Only 2 newborns were classified as idiopathic. Our study shows that cardiovascular diseases that lead to heart failure or impaired venous return are more common in the liveborn (50%), whereas congenital infections are more common in the stillborn with NIHF.     

Congenital epithelial splenic cysts in children

The clinical, radiographic and sonographic features of four children with congenital epithelial splenic cysts are described. All four cases presented with a left upper quadrant mass and few symptoms. In one case the spleen descended into the pelvis in the upright position. In three cases the sonographic findings showed the mass to be completely sonolucent. In the fourth case the mass was echogenic and echoes were distributed homogeneously throughout the mass. These internal echoes were due to the presence of fat droplets within the cyst fluid. Internal echoes may also be due to hemorrhage into the cyst. In all four cases a rim of splenic tissue was visible around part of the cyst.     

Maternal cell microchimerism in newborn tissues

OBJECTIVES: On the basis of reports of maternal cells being detected in the umbilical cord blood of newborn infants, we tested the hypothesis that maternal cells can migrate out of the circulation into newborn tissues. STUDY DESIGN: We studied autopsy material from 4 newborn infants who never received a blood transfusion and died during the first week of life. The study subjects' diagnoses were trisomy 21 with nonimmune hydrops, 46, XY, 4q+ with multiple congenital anomalies, Potter syndrome, and congenital ichthyosis. Fluorescence in situ hybridization analysis with X and Y chromosome-specific probes was performed on sections of paraffin-embedded tissue, including liver, spleen, thymus, thyroid, and skin. RESULTS: Female cells, as defined by the presence of intact nuclei with two X chromosome signals, were detected in multiple tissue types from all 4 male neonates. The number of female cells varied from 3 to 45 per slide. CONCLUSIONS: Maternal cells enter the fetal circulation and are capable of migration to fetal and neonatal organs. This is of importance with regard to potential consequences of umbilical cord blood transplantation and postnatal development of autoimmune disease.     

Supernumerary intrascrotal ectopic spleen: discontinuous splenogonadal fusion

Splenogonadal fusion is a rare congenital malformation that results from abnormal connection of splenic tissue with the gonad or the mesonephric structures during embryonic development. It is usually detected in males and is classified into two types, continuous and discontinuous. We present the case of a 3-year-old boy with an asymptomatic scrotal mass that was suspicious for discontinuous splenogonadal fusion on Doppler ultrasonography. The diagnosis was confirmed by surgical excision and histological analysis. Splenogonadal fusion is a benign anomaly that has sometimes led to unnecessary orchidectomy because of suspicion that the mass represented a malignant tumor. Consequently, it is essential to include this malformation in the differential diagnosis of scrotal masses in children.