A rare cause of wheezing in an infant: Esophageal duplication cyst

Esophageal duplication cyst (EDC) is classified as a subgroup of foregut duplication cyst. They are very rare and predominantly detected in children. We present an unusual cause of wheezing in a 2-month-old infant. The diagnosis of EDC was suspected by bronchoscopy, provisionally confirmed by magnetic resonance imaging, and followed by successful surgical excision of the cyst. We conclude that foregut duplication cyst of the esophagus is very rare, and must be considered in the differential diagnosis of persistent wheezing in infants who do not respond to conventional treatment.     

Foregut duplication cyst of the stomach

Foregut duplication cyst of the stomach is an extremely rare disease entity. A 35-year-old Korean man presented with epigastric pain. An abdominal cystic mass, measuring 7 x 6 x 5 cm, was found in the lesser curvature of the stomach. The cyst was unilocular with a grey-white, rubbery wall. Microscopically, the cyst wall was lined by pseudostratified ciliated, columnar epithelium and gastric mucosa with a complete lining of smooth muscle bundles. Although the origin of this lesion remains uncertain, this case suggests that the gastric cyst arose from the embryonic foregut and showed differentiation toward respiratory and gastric structures.     

Carcinoid tumor arising in a duplication cyst of the duodenum

Reported herein is a case of carcinoid tumor arising in a duplication cyst of the duodenum in a 34-year-old woman. Ultrasonography at a health check-up revealed a 10 cm cystic mass located in the retroperitoneum adjacent to the third portion of the duodenum. Macroscopically, it had a smooth surface without communication with other organs and was filled with brownish necrotic fluid. More than half of the inner wall was occupied by a white, irregular, and solid nodule, which protruded into the lumen. The nodule was diagnosed as a carcinoid tumor invasive to the deep muscular layer. The non-neoplastic cyst wall had bowel structures including mucosa, submucosa and double layers of smooth muscle, indicating that the lesion was a duodenal duplication cyst. Most of the mucosa was eroded by marked inflammation. The remaining mucosa consisted of various types of epithelium, the major type having the nature of primitive gastric mucosa. Of interest was the presence of hamartomatous components in the wall. Furthermore, the non-neoplastic mucosal lining cells around the carcinoid tumor expressed neuroendocrine antigens and had minimal proliferative activity, suggesting that part of the cyst wall provided a microenvironment for accelerated differentiation of epithelial cells to an endocrine phenotype and transformation to neoplasia.     

Foregut duplication cyst of the stomach with pseudostratified columnar ciliated epithelium

Duplication cyst of the stomach with pseudostratified columnar ciliated epithelium is extremely rare. A 72-year-old Japanese woman visited Oomoto Hospital for examination of the stomach. Gastroendoscopy indicated a slightly depressed gastric cancer in the anterior wall of the middle third of the stomach. Adenocarcinoma was confirmed on endoscopic biopsy. Preoperative CT indicated a subserosal cystic lesion 2 cm in diameter on the lesser curvature of the stomach. The cystic lesion was resected through distal gastrectomy and systematic lymph node dissection. Histopathology showed that the cyst did not communicate with the gastric lumen, had pseudostratified columnar ciliated epithelium with circular muscle layers, and did not have gastric epithelium or cartilaginous tissue. The gastric cancer consisted of moderately differentiated adenocarcinoma with submucosal invasion and lymph node metastasis. Consequently, the present patient was diagnosed as having foregut duplication cyst of the stomach.     

Ileal duplication cyst associated with heterotopic pancreas: Report of a case and literature review

A rare case of solitary Ileal duplication cyst accompanied by heterotopic pancreas in the terminal ileum is presented. An 8 year old boy with an ovoid shaped, elastic soft and pendant-growing ileal duplication cyst associated with aberrant pancreatic tissue but not communicating with the lumen of the ileum, underwent an adhesiotomy for a small intestinal adhesion that caused bowel obstruction. The obstructive state of the intestine seemed to be caused by an inflammation of the duplication cyst which was 4.5 × 2.7 × 2.5 cm and oval in shape. Excision of the cyst and the heterotopic pancreas was curative. The histological findings were identical to heterotopic pancreas accompanied by ileal duplication without any clinical features of heterotopic pancreas. A review of the literature is presented along with the authors' experience in a case of ileal duplication cyst associated with heterotopic pancreas located in the ileum.     

Laparoscopic resection of intra-abdominal esophageal duplication cyst near spleen: a case report

Esophageal duplication cysts (EDCs) are congenital malformations of the posterior primitive foregut and often within the thoracic esophagus. Here we describe a rare case of intra-abdominal EDC near spleen in a 20-year-old female patient with a complaint of an asymptomatic abdominal mass for 5 years. The diagnosis of intra-abdominal EDC was confirmed by the Ultrasonography (US) and Magnetic resonance imaging (MRI) as well as Histological examination. Then the patient was received the laparoscopic resection and recovered well after the operation. We conclude that the laparoscopic resection is considered to be feasible and a reasonable treatment for intra-abdominal esophageal duplication cyst.     

Asymptomatic tubular duplication of the transverse colon in an adult

Colonic duplication is a rare congenital anomaly of the alimentary tract. In most cases, symptomatic duplications of the colon are recognized and treated by childhood. It is uncommon for these lesions to be detected in the adulthood since they present with vague symptoms if at all. We experienced a case of asymptomatic tubular duplication of the transverse colon in a 40-year-old female. Barium enema revealed a tubular duplication of the transverse colon. The duplicated segment arose from the mid ascending colon and incorporated just proximal to the splenic flexure, running parallel to the transverse colon and communicating with it at both ends. Colonoscopy demonstrated a normal colonic mucosa in the duplicated segment. The diameter of its lumen gradually narrowed proximally and the colonoscope could not be passed through the proximal opening of the segment. The patient did not need any treatment. Duplications of the alimentary tract can be found at any age. The possibility of congenital lesions in the adult population should not be overlooked.     

Laparoscopic excision of a urachal cyst containing large stones in an adult

Stone-containing urachal cysts are extremely rare in adults. Here, we report the case of a 58-year-old man with a urachal cyst who had lower abdominal pain and urinary frequency. Abdominal ultrasonography and computed tomography showed hyperdense stones in the urachus. He was treated with a laparoscopic excision using a transperitoneal approach. The pathological diagnosis was an inflammed urachal cyst. This rare case illustrates an inflammed urachal cyst containing stones treated with laparoscopy.     

Bronchogenic cyst in the hepatogastric ligament masquerading as an esophageal mesenchymal tumor: a case report

Lesions occur in hepatogastric gap is common, but most of these lesions are from stomach, lower esophagus and pancreas lesions extending or transferring to the gap. Lesions occurred in the hepatogastric ligament are rare, especially bronchogenic cysts in the hepatogastric ligament. So far, there were no relevant cases reported. Here, we report a case of bronchogenic cyst in the hepatogastric ligament that masquerading as an esophageal mesenchymal tumor. A 24-year-old young man presented with abdominal bloating was diagnosed as esophageal mesenchymal tumor in previous hospital by gastroscopy, endoscopic ultrasonography (EUS) and computed tomography (CT) examination. For the sake of endoscopic submucosal dissection (ESD), the man was transferred to our hospital. During surgery, we found no lesions in lower esophagus, but external pressure ridge lesions in the distal esophagus right side wall. Then laparoscopic surgery and pathology confirmed as bronchogenic cyst in the hepatogastric ligament. We report what is, to the best of our knowledge, the first case of a bronchogenic cyst in the hepatogastric ligament masquerading as an esophageal mesenchymal tumor.     

Mycosis fungoides in an epidermoid cyst

A patient with mycosis fungoides is described in whom two excised epidermoid cysts showed mycotic involvement.     

SRD5A3-CDG: Twins with an intragenic tandem duplication

Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare metabolic disease mainly characterized by psychomotor disability, visual impairment, and variable eye malformations caused by bi-allelic pathogenic variants in SRD5A3. So far, only 23 distinct mutations were described. Exome sequencing in 32-year old monozygotic male twins revealed only the heterozygous splice variant c.562+3delG in SRD5A3, but no second variant. The twins presented with psychomotor deficit and a complex eye disease including retinal dystrophy, pallor of the papilla, nystagmus, and strabismus suggestive of SRD5A3-CDG. Only when applying exome-based copy number analysis, we identified as a second compound heterozygous variant a previously not reported tandem duplication of exons 2–4 in SRD5A3. Next to the typical skeletal anomalies of SRD5A3-CDG such as kyphosis and scoliosis, extension deficits of the proximal interphalangeal (PIP) joints IV were observed. Since similar contractures were described once in a patient with SRD5A3-CDG, we suggest that this rare symptom is possibly associated with SRD5A3-CDG. Our findings further expand the mutational and clinical spectrum of SRD5A3-CDG and emphasize the importance of an intragenic copy number analysis in patients with strong clinical suspicion of SRD5A3-CDG and only one detectable sequence variant.     

Antenatal diagnosis of abdominothoracic alimentary tract duplication: a case report

Summary Alimentary tract duplications are rare, linked in their tubular form with a disturbance of organogenesis at the time of the separation of the notochord during the 4th week of gestation. Its division leads to the formation of a supernumerary esophagus, situated in the posterior mediastinum, associated with vertebral malformations and connected at its distal extremity with the alimentary tract. We report a case of esophageal duplication revealed antenatally as an ultrasound image of fluid tonality in the posterior mediastinum, causing a major pleural effusion. The other diagnostic possibilities are discussed in terms of the anatomy, embryogenesis and ultrasonographic appearance of the lesion.

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Duplication digestive abdominothoracique à révélation anténatale A propos d'une observation

Résumé Les duplications digestives sont rares, liées dans leur forme tubulaire à un trouble de l'organogenèse datant de l'isolement de la notochorde lors de la 4e semaine de gestation: sa division aboutit à la formation d'un sophage surnuméraire, se trouvant dans le médiastin postérieur, associé à des malformations vertébrales et relié à son extrémité distale au tractus digestif. Nous rapportons une observation de duplication sophagienne à révélation anténatale, sous la forme d'une image échographique de tonalité liquidienne du médiastin postérieur, à l'origine d'un épanchement pleural important. A la lumière de l'anatomie, de l'embryogenèse, et de l'aspect échographique de la lésion, les autres diagnostics possibles sont discutés.

     

Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24‐q25 due to a terminal duplication

We describe an adult male with severe learning disability, epilepsy, and dysmorphic features. Cytogenetic studies demonstrated a terminal duplication of the long arm of chromosome 17, resulting in partial trisomy 17q24‐q25. Our patient shows some of the characteristic features of the distal 17q phenotype, but in addition has more unusual features such as epilepsy, sensorineural hearing loss, and long fingers and overlapping toes. We suggest that these features occur with terminal duplications of 17q. © 2002 Wiley‐Liss, Inc.     

Prader-Willi–like syndrome in a patient with an Xq23q25 duplication

We report on a 24-year old woman with an Xq duplication and findings suggestive of Prader-Willi syndrome (PWS). Her birth weight was at the 3rd centile and her birth length was less than the 3rd centile. She was hypotonic and had a weak cry as an infant. There were no feeding difficulties, although her mother reports that as an infant, she was “small for her age.” Excessive weight gain began between 3 and 4 years. The patient's development was delayed and she received special education. She has a history of hiding food. She has a sleep disturbance disorder and inappropriate social behavior. At the age of 24 years her height was below the 5th centile and weight >>95th centile. She has physical findings typical of PWS, skin picking, and speech articulation defects. Cytogenetic analysis showed a 46,X,dup(X)(q23q25) karyotype. Fluorescent in situ hybridization (FISH) studies using a chromosome X painting probe demonstrated that the rearrangement was intrachromosomal. The X-chromosome fold scoring technique was used to determine the X inactivation pattern and indicated that some cells expressed the abnormal X chromosome. Results of FISH studies using the SNRPN probe localized to 15q11q13 and DNA studies using the PW71B and SNRPN probes were normal. The duplicated X chromosome, random X inactivation pattern, and the negative molecular studies for PWS indicate that the abnormal X chromosome is the basis of this patient's phenotype. This patient emphasizes the importance of obtaining a karyotype even when a syndrome diagnosable by molecular methods is strongly suspected. Am. J. Med. Genet. 80:227–231, 1998. © 1998 Wiley-Liss, Inc.     

Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome

We describe an adult male who was diagnosed with Down syndrome (DS) at 9 months of age, but had repeatedly normal karyotypes until recent mid‐resolution chromosome studies showed a possible duplication of 21q22.13 to 21q22.3. The abnormality was investigated using fluorescent in situ hybridization (FISH) studies. These showed hybridization of a whole chromosome paint probe (wcp21, Oncor Coatasome 21) to the entire length of both chromosome 21 homologues and one very large hybridization signal of a cosmid contig probe localized within bands 21q22.13‐21q22.2(LSI‐21, Vysis) on the ?dup(21q) homologue. CGH analysis identified a ratio of 1.5 for the segment of chromosome 21 involving band 21q22, indicating a gain of part, or all, of the terminal band of chromosome 21. The karyotype was thus defined as 46,XY,?dup(21) (q22.13q22.2).ish dup(21)(LSI‐21++,wcp21+). Common DS characteristics in our case and 12 previously reported cases with duplications involving chromosome 21 included mental retardation, fifth finger clinodactyly, open mouth and oblique eye fissures. Transverse palmar creases and congenital heart defects, seen in DS less than 40% of the time, were infrequent. Presence of these features did not appear to depend on the specific portion of chromosome 21 that was duplicated. A review of 18 additional clinical features showed no consistent phenotype–genotype correlations.     

Ciliated hepatic foregut cyst: a rare but increasingly reported liver cyst

We report a case of a ciliated hepatic foregut cyst (CHFC) in the left lobe of the liver in a 42-year-old woman. To date, only 60 cases of these respiratory epithelial lined hepatic cysts have been reported since first described by Friedrich in 1857. CHFC are believed to be congenitally derived from the embryonic foregut and are considered benign lesions that are most often unilocular. Recently, however, there has been documented malignant transformation in these cysts. The majority of patients with a CHFC are asymptomatic and the cyst is usually an incidental finding during abdominal imaging studies or during surgical exploration. Interestingly, 85% of the total number of cases of CHFC have been reported within the last two decades. This recent rise in case reports is likely explained by greater detection because of the dramatic rise in the use of abdominal imaging. In our case, however, ultrasound failed to demonstrate any lesion within the liver and on computed tomography the cyst was more consistent with a soft tissue mass. Therefore, pathologic evaluation was necessary for the correct diagnosis of this liver lesion and to exclude malignancy.     

Direct tandem duplication in chromosome 19q characterized by array CGH

Partial trisomy of the long arm of chromosome 19 is a rare aneusomy. Only six cases of pure duplications have been previously reported, two of which were prenatally detected. Here we describe the clinical manifestations in a 15-month-old girl with a de novo dup(19)(q12q13.2) and the application of array-based comparative genomic hybridization with a resolution of approximately 1 Mb to characterize the duplicated segment. Seven clones were found duplicated, and the size of the fragment was determined to be 10.8 Mb.

The scarce number of patients reported and the difficulty of accurately defining the duplicated segment when conventional cytogenetic methods are applied hamper the delineation of a clinical phenotype for duplication of chromosome 19q.

To our knowledge this is the fifth live born reported with a pure dup(19), and the first report in which the duplicated segment has been accurately characterized by means of array CGH.     

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation

We describe a female infant with severe abnormal phenotype with a de novo partial duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) was performed with YAC probes, further delineating the breakpoints. The karyotype was 46, X dup(X)(p11-p21.2).Cytogenetic replication studies showed that the normal and duplicated X chromosomes were randomly inactivated in lymphocytes. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated and they are phenotypically apparently normal relatives of phenotypically abnormal males having dupX. Therefore, in this case, there is functional disomy of Xp11-p21.2 in the cells with an active dup(X), most likely resulting in abnormal clinical findings in the patient.     

Squamous cell carcinoma originated from an epidermal cyst

Epidermal cyst (EC) of the skin is a very common condition. Squamous cell carcinoma (SCC) very infrequently arises from EC. A 76-year-old Japanese woman was admitted to our hospital because of multiple papules in the nose and nasal cavity. The clinical diagnosis was sebaceous hyperplasia. An excisional biopsy was obtained from one papule. Histologically, the papule showed an EC. The EC communicated with the epidermis. Islands of atypical cells with hyperchromatic nuclei and infrequent pearl formation were recognized around and adjacent to EC. No connections were seen between the atypical cell islands and epidermis. The atypical cells had hyperchromatic nuclei and nucleoli. Mitotic figures and keratinous pearls were scattered. The HE diagnosis was probable SCC probably arising from EC. Immunohistochemically, the atypical cells were positive for pancytokeratin AE1/3, cytokeratin (CK) 5/6, CK14, CK18, CK 34BE14, EMA, p53, Ki-67 (labeling 90%), and p63. They were negative for pancytokeratin CAM5.2, CK7, CK8, CK19, CK20, vimentin, S100 protein, HMB45, synaptophysin, and CD56. CD68 was positive in histiocytes and giant cells in the foreign body reaction. The EC showed the same immunoprofile as the SCC, except for negative p53 and low Ki-67 labeling in the EC. The histological and immunohistochemical diagnosis was definite SCC arising from EC.