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1.  Pituitary metastasis of rhabdomyosarcoma: a case report and review of the literature 
Introduction
The pituitary gland is an uncommon site for metastases, in particular from rhabdomyosarcoma. Some authors have reported a recent increase in the incidence of metastases at infrequent sites, such as brain or bone, probably due to the expanded treatment options and the resulting improved survival. Treatment options are limited, but must be discussed and adapted to the patient profile.
Case presentation
We report the case of a 17-year-old Arabic man, diagnosed with alveolar rhabdomyosarcoma of the left shoulder, who, after several cycles of chemotherapy, presented symptoms and signs of pituitary dysfunction. To the best of our knowledge, it is the first case described.
Conclusions
Pituitary metastasis of rhabdomyosarcoma is a rare situation, which must be actively researched to have access to an optimal therapeutic approach.
doi:10.1186/1752-1947-8-144
PMCID: PMC4036491  PMID: 24885254
Pituitary gland; Metastasis; Rhabdomyosarcoma
2.  Obstructive jaundice caused by a biliary mucinous cystadenoma in a woman: a case report 
Introduction
Mucinous cystadenoma of the liver is a rare (less than 5%) neoplasm. This condition is more common in young women and accounts for non-specific symptoms. Cyst adenomas commonly affect the intrahepatic system (90%) and are rarely found in the extrahepatic biliary system or affecting both the systems.
Case presentation
A 39-year-old Sinhalese woman presented with features of obstructive jaundice and was found to have a biliary neoplasm on imaging. In the absence of a definitive diagnosis despite extensive imaging she underwent preoperative endoscopic biliary drainage followed by a left hemihepatectomy with Roux-en-Y hepaticojejunostomy. A pathological examination of the specimen revealed an obstruction of the bile duct caused by a biliary mucinous cystadenoma affecting both the intrahepatic and extrahepatic systems.
Conclusions
Biliary mucinous cystadenoma rarely present with obstructive jaundice affecting both intrahepatic and extrahepatic ducts. Exhaustive investigation might not help in the diagnosis and may need to be treated based on clinical judgment. The definitive treatment modality is surgery due to its malignant potential. The operative procedure is technically demanding and is best performed at specialist centers to minimize complications.
doi:10.1186/1752-1947-7-278
PMCID: PMC3891978  PMID: 24378216
Benign liver cyst; Liver cyst; Mucinous cystadenoma; Obstructive jaundice
3.  Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report 
Introduction
Chromosomal aberrations of chromosome 16 are uncommon and submicroscopic deletions have rarely been reported. At present, a cytogenetic or molecular abnormality can only be detected in 55% of Rubinstein-Taybi syndrome patients, leaving the diagnosis in 45% of patients to rest on clinical features only. Interestingly, this microdeletion of 16 p13.3 was found in a young child with an unexplained syndromic condition due to an indistinct etiological diagnosis. To the best of our knowledge, no evidence of a microdeletion of 16 p13.3 with contiguous gene deletion, comprising cyclic adenosine monophosphate-response element-binding protein and tumor necrosis factor receptor-associated protein 1 genes, has been described in typical Rubinstein-Taybi syndrome.
Case presentation
We present the case of a three-year-old Malaysian Chinese girl with a de novo microdeletion on the short arm of chromosome 16, identified by oligonucleotide array-based comparative genomic hybridization. Our patient showed mild to moderate global developmental delay, facial dysmorphism, bilateral broad thumbs and great toes, a moderate size atrial septal defect, hypotonia and feeding difficulties. A routine chromosome analysis on 20 metaphase cells showed a normal 46, XX karyotype. Further investigation by high resolution array-based comparative genomic hybridization revealed a 120 kb microdeletion on chromosomal band 16 p13.3.
Conclusion
A mutation or abnormality in the cyclic adenosine monophosphate-response element-binding protein has previously been determined as a cause of Rubinstein-Taybi syndrome. However, microdeletion of 16 p13.3 comprising cyclic adenosine monophosphate-response element-binding protein and tumor necrosis factor receptor-associated protein 1 genes is a rare scenario in the pathogenesis of Rubinstein-Taybi syndrome. Additionally, due to insufficient coverage of the human genome by conventional techniques, clinically significant genomic imbalances may be undetected in unexplained syndromic conditions of young children. This case report demonstrates the ability of array-based comparative genomic hybridization to offer a genome-wide analysis at high resolution and provide information directly linked to the physical and genetic maps of the human genome. This will contribute to more accurate genetic counseling and provide further insight into the syndrome.
doi:10.1186/1752-1947-6-30
PMCID: PMC3295639  PMID: 22269667
4.  Rare recurrence of a rare ovarian stromal tumor with luteinized cells: a case report 
Introduction
Sex cord-stromal tumors of the ovary are uncommon. They behave unpredictably and often have a late recurrence, making counseling, management, and prediction of prognosis challenging.
Case presentation
A 52-year-old Moroccan woman with an sex cord-stromal tumors underwent a bilateral oophorectomy. The histology was unusual but was likely to be a luteinized thecoma with suspicious features for invasion. Seven years later, after a gastrointestinal bleed, a metastasis within the small bowel mucosa was detected. This represents probable isolated hematogenous or lymphatic spread, which is highly unusual, especially in the absence of concurrent peritoneal disease.
Conclusions
To the best of our knowledge, this is the second reported case of an sex cord-stromal tumors recurring in small bowel mucosa and mimicking a primary colorectal tumor. This highlights the diverse nature and behavior of these tumors.
doi:10.1186/1752-1947-5-350
PMCID: PMC3163610  PMID: 21816048
5.  Epithelioid hemangioma of the penis: case report and review of literature 
Introduction
Epithelioid hemangioma is a rare vascular tumor found in the penis. It is essential to avoid misdiagnosis with Peyronie's disease and penile cancer, as management differs significantly.
Case presentation
We present a case of epithelioid hemangioma of the penis in a 50-year-old Caucasian man. We also review the literature to evaluate the incidence of benign vascular anomalies of the penis and their management.
Conclusions
Epithelioid hemangioma of the penis should be considered in the differential diagnosis of patients presenting with painful penile lumps. A thorough histological and immunohistochemical examination is required to make the diagnosis. Optimal management is complete local excision and periodic physical examination for local recurrence.
doi:10.1186/1752-1947-5-260
PMCID: PMC3141710  PMID: 21718503
6.  Spontaneous biloma managed with endoscopic retrograde cholangiopancreatography and percutaneous drainage: a case report 
Introduction
Spontaneous biloma formation is a very rare condition, which mandates immediate treatment.
Case presentation
An 80-year-old Caucasian man was referred to our department with a diagnosis of intra-abdominal collection located in his right upper quadrant. Further radiological examination demonstrated multiple calculi in his gallbladder and common bile duct. Our patient underwent endoscopic retrograde cholangiopancreatography and the stones in the common bile duct were extracted. Percutaneous drainage of the abdominal collection revealed a spontaneous biloma formation. Continuous drainage of bile persisted for one week, so endoscopic retrograde cholangiopancreatography was repeated and a 10Fr stent was placed; subsequently the biliary leak ceased and our patient was discharged. A control abdominal computed tomography did not show any residual fluid collection.
Conclusion
Spontaneous biloma formation is a very rare incidence; awareness is necessary for prompt recognition and treatment.
doi:10.1186/1752-1947-5-3
PMCID: PMC3023755  PMID: 21210994
7.  Inguinal lymph node metastases from a testicular seminoma: a case report and a review of the literature 
Introduction
We report the case of a true hermaphrodite with testicular seminoma with resulting metastases to the inguinal lymph nodes eight months after radical orchidectomy. This is an unusual presentation of testicular cancer and, to the best of our knowledge, the first report of this kind in the literature.
Case presentation
A 45-year-old Caucasian true hermaphrodite, raised as a male, developed a testicular seminoma. He had undergone a left orchidopexy at the age of 10 for undescended testes. Metastases from testicular tumors to inguinal lymph nodes are a rare occurrence. It has been suggested that previous inguinal or scrotal surgery may alter the pattern of nodal metastasis of testicular cancer. We review the literature to evaluate the incidence of inguinal lymph node involvement in early stage testicular cancer and discuss possible routes of metastases to this unusual site. We also discuss the management of the inguinal lymph nodes in patients with testicular tumors and a previous history of inguinal or scrotal surgery, as this remains controversial.
Conclusion
Inguinal lymph node metastases from testicular cancer are rare. A history of inguinal or scrotal surgery may predispose involvement of the inguinal nodes. During radical inguinal orchidectomy, the surgeon should be careful to minimize the handling of the testis and ensure high ligation of the spermatic cord up to the internal inguinal ring to reduce the risk of inguinal lymph node metastasis.
doi:10.1186/1752-1947-4-378
PMCID: PMC3003676  PMID: 21108777
8.  Primary hydatid cyst of the gallbladder: a case report 
Introduction
Echinococcosis, or hydatid disease, is endemic in some regions of the world, and has been a common pathology of surgical wards in Kosovo. Primary hydatid cyst of the gallbladder is an unusual and very rare localization of hydatid disease. So far, only five cases that fulfill the criteria of primary gallbladder hydatidosis have been published in the English medical literature.
Case presentation
We report a case of a 39-year-old Kosovan Albanian woman referred to the Abdominal Surgery Division of the University Clinical Center of Kosovo for "a calcified hydatid cyst of the liver with gallbladder involvement". Her history was significant for chronic right upper quadrant pain, characterized as intermittently colicky pain, accompanied by nausea. The patient underwent right subcostal laparotomy. Intra-operatively, a calcified primary hydatid cyst of the gallbladder was found. Its pericyst was tightly attached to the liver. Complete pericystectomy with cholecystectomy followed. The histopathology confirmed the presence of calcified hydatid cyst of the gallbladder, and that the cyst had developed entirely extra-mucosally. Five year follow-up showed no recurrence of disease.
Conclusion
Primary hydatid cyst of the gallbladder is a very rare clinical entity. Accurate preoperative diagnostic localization is not always easy, particularly in centers with limited diagnostic tools.
doi:10.1186/1752-1947-4-29
PMCID: PMC2827429  PMID: 20205877
9.  An unusual presentation of multiple myeloma: a case report 
Multiple myeloma can occasionally manifest with joint disease. We report the case of an individual with a progressive bilateral carpal syndrome and a symmetrical severe seronegative polyarthritis and joint swelling. Investigations revealed an erosive seronegative inflammatory arthritis in association with bilateral carpal tunnel syndrome, anaemia, hepatic impairment and nephrotic-range proteinuria. Synovial fluid cytology demonstrated plasmablasts and multinucleated cells with products of chondrolysis. The diagnosis of multiple myeloma (with secondary amyloidosis) was made on serum protein electrophoresis and bone marrow biopsy.
The relationship between myeloma and joint disease is discussed, highlighted by the presence in this case of all three pathogenic features associated with arthritis in myeloma patients- an erosive arthritis, carpal tunnel syndrome and an invasive tumoural arthritis.
doi:10.1186/1752-1947-1-84
PMCID: PMC2075505  PMID: 17845728

Results 1-9 (9)