Congenital Bilateral Saccular Cysts and Bifid Epiglottis: Presentation and Management

Saccular disorders are rare representing only 1.5 % of all laryngeal anomalies. Bifid epiglottis is also an extremely rare congenital anomaly that usually occurs in a syndromic picture in association with other anomalies such as polydactyly, cleft palate and micrognathia, which are seen in Pallister–Hall Syndrome and rarely with other syndromes. We report a case of bilateral saccular cysts and bifid epiglottis in a full term neonate presenting with stridor. The patient’s other congenital anomalies included microretrognathia, short neck, polydactyly of four extremities and hypospadias. The patient underwent staged endoscopic microsurgical marsupialization of both cysts and endoscopic repair of the bifid epiglottis.     

Heusinger–s syndrome-a case report

Heusinger’s syndrome or Branchio-oto-renal dysplasia is a rare congenital anomaly. One such case with external ear anomalies, branchial fistula and renal abnormality is presented. The patient underwent successful excision of the branchial fistula. The case is discussed with review of relevant literature.     

Thérapeutiques ciblées dans les tumeurs de l’os et des tissus mous : vers une prise en charge individualisée

Sarcomas are rare types of tumours which present wide variations in their clinical and biological characteristics. In spite of successful locoregional treatment, metastasis will occur in close to 40% of patients. As a rule, doxorubicin is the first-line therapy for patients who have a metastatic soft tissue sarcoma, with very modest results. However, targeting the molecular anomalies which are characteristic of sarcomas could lead to improved patient survival, as has been demonstrated for gastrointestinal stroma tumours and dermatofibrosarcomas. Several clinical trials to evaluate new agents such as cell cycle inhibitors or anti-angiogenic drugs are currently under way. Molecules targeting the epigenetic anomalies of sarcomas are also a promising form of treatment. Finally, the use of nanotechnologies is creating new, original therapies currently under clinical evaluation, particularly in association with radiotherapy.     

Simultaneous complete branchial and thyroglossal fistula — a rare presentation

The anomalies of branchial cleft and thyroglossal tract accounts for the majority of fistulas in head neck region. A simultaneous presentation of both type of fistula in a same patient is very rare with no such cases reported in Indian literature till date. Here we present a case of simultaneous complete branchial and thyroglossal fistula in a 13-year-old girl with radiologically demonstrable internal opening on fistulogram managed surgically.     

Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identified as the primary cause of BOR syndrome. We present a 3year old child with BOR syndrome, who came to us with bilateral low set, malformed ears & profound cochlear hearing loss along with bilateral branchial fistulae & unilateral renal agenesis. This child underwent successful cochlear implantation recently. The clinical presentation, pre-operative investigations, intra-operative findings & post-op habilitation status are presented with special highlights on the unique facial nerve course along with middle and inner ear anomalies which posed a surgical challenge during cochlear implantation.     

A rare case of congenital malformation of the nose (triple nostrils)

Congenital midline and lateral anomalies of the nose are frequently reported, but a rare case of triple nostrils with double septum anomaly of the nose is reported.     

非典型bcr-abl融合基因急性淋巴细胞白血病一例并文献复习

目的 探讨少见b3a3型bcr-abl融合基因急性淋巴细胞白血病(ALL)的诊断及其特点.方法 对2010年确诊为ALL的1例患者进行核型分析,并通过荧光原位杂交(FISH)技术检测bcr-abl融合基因的存在,采用反转录聚合酶链反应(RT-PCR)检测该融合基因的断裂位点.结果 该患者的核型表现为45,XY,-7,t(9;22) (q34;q11),FISH检测发现了bcr-abl融合基因的存在,RT-PCR检测出该融合基因的断裂位点为少见的b3a3型.结论 常规的检测方法只能检测出典型的bcr-abl融合基因,而非典型bcr-abl融合基因需结合多种检测手段才能检测出阳性结果.少见b3a3型bcr-abl融合基因及其融合蛋白的功能和潜在利用价值还有待发掘.     

Clinical manifestations of genetic instability overlap one another

Cancer syndromes are characteristic associations of specific malignancies with various congenital anomalies. In addition to such diseases, an increased prevalence in general of chromosomal instability, malformations, immunodeficiencies, altered growth and development, and reproductive loss has been observed in both childhood leukemias and solid tumors. The overlap among these congenital disorders suggests their common prenatal, possibly genetic origin and thus the existence of a nonspecific genetic instability leading to various clinical manifestations of disturbancies in cell division. Seeking for related features in family members of a patient with malignancy may be of clinical value in detecting predisposition to cancer. Hungarian Science Foundation (OTKA T-032027) and Hungarian Ministry of Health (ETT 332/2003).     

Endometrial cancer with congenital uterine anomalies: 3 case reports and a literature review

Background: Uterine malformation is a rare deformity in woman, and only a few cases concerning endometrial cancer arising in patients with congenital uterine anomalies have been reported. Herein, we present 3 cases of endometrial cancer with different congenital uterine anomalies, and review studies involving congenital uterine anomalies associated with endometrial cancer in the past 25 years, to identify similarities and differences in clinicopathologic characteristics and prognosis between endometrial cancer associated with uterine anomalies, and normal uterus. Cases: Case 1 was a 75-year-old gravida 1, para 0, woman with carcinosarcoma (mixed well-differentiated endometrial adenocarcinoma and undifferentiated sarcoma) of the right cavity (grade III, and at least stage II ) of a uterus didelphys. The tumor recurred within 7 months after surgery, salvage radiotherapy was unsuccessful; the patient died 8 months after the surgery. Case 2 was a 63-year-old gravida 5, para 3, woman with a bicornuate uterus and uterus papillary serous carcinoma of the right horn (grade III, stage IIIC). She did not respond to the chemotherapy post surgery and died within 4 months. Case 3 was a 60-year-old gravida 0, para 0, woman with a complete septate uterus and an oblique vaginal septum of the upper region of the vagina with endometrioid adenocarchcinoma of the left cavity (grade II, stage IA). No adjuvant therapy was administered and the patient had recovered 2 y after the surgery. Conclusion: Clinicians should be aware of the coexistence of uterine malignancies and uterine anomalies in patients presenting with persistent abnormal uterine bleeding, but with negative endometrial biopsy or failed in the operation of endometrial biopsy. In such cases, magnetic resonance imaging has an important role in the diagnosis of both malformation and malignancy, and an exploratory laparotomy should be performed to avoid delaying the diagnosis and treatment of cancers.     

First Branchial Cleft Anomalies: Avoiding the Misdiagnosis

First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.     

Splenomegaly and solitary spleen metastasis in solid tumors

Metastasis to the spleen from various neoplasms is very rare. Most of the splenic metastases are found at autopsy, and are part of a widespread disease. Four patients had cervical cancer (1 patient), endometrial cancer (1 patient), lung carcinoma (1 patient), and malignant melanoma (1 patient). All patients had splenic involvement without pathologic evidence of lymph node metastasis, and all underwent splenectomy. Three of the four presented with painful splenomegaly. The time from diagnosis to the development of splenic metastasis varied from 20 to 24 months. Two of the four patients had postoperative radiotherapy, one patient received intraperitoneal chemotherapy, and the patient with the melanoma received adjuvant chemotherapy. The rarity of solitary spleen metastasis from solid tumors and the treatment modalities are discussed.     

Congenital anomalies of the nose

Some of the congenital anomalies of the nose give a preternatural and demoniacal look to to the baby apart from the functional disabilities that are quite often concomitant. Besides, the child develops serious psychological problems due to the deformity. An early correction is mandatory for cosmetic improvement and functional rehabilitation. Five rare malformations are reported.     

Rhabdomyomatous mesenchymal hamartoma presenting as a skin tag in the sternoclavicular area

Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare congenital lesion of the dermis and subdermis. It has been described predominantly in newborns, with 30 cases reported in the English literature. Typically, it appears as a skin tag, papule, nodule or a mass involving the face or sternal notch. A 28-day-old girl presented with a 1.4 x 0.8 cm soft skin tag in the right sternoclavicular area. Physical examination revealed no congenital anomalies. A shaved biopsy showed that the core of the lesion contained striated muscle fibers mixed with hair follicles and sebaceous and eccrine glands. Thin epidermis lined the outside of the tag. We report a patient with a RMH in a site not previously reported and discuss the differential diagnosis.     

Radiotherapy for steroid-resistant laryngeal Rosai-Dorfman disease

Rosai-Dorfman disease is a rare lymphoproliferative disorder that can have nodal and extranodal manifestations. In the absence of established guidelines for the management of this condition, various therapeutic modalities are used, including radiotherapy. Radiation dosages and fractionation schedules have not been reported in all instances. We present a case in which glottic and subglottic Rosai-Dorfman lesions causing airway obstruction in a frail steroid-refractory patient were put into complete remission using radiotherapy. The lesions responded transiently to a course of prednisone, but responded completely to external-beam radiation, with minimal side effects to the patient.     

Congenital Cholesteatoma of Temporal Bone with Bezold’s Abscess: Case Report

Congenital cholesteatoma is a rare entity. It may originate at various sites in the temporal bone, for example, in the petrous apex, the cerebellopontine angle, the middle ear cavity, the mastoid process or in the external auditory canal. The least common site being the mastoid process. Most common presentation is a retrotympanic pearly white mass with no previous history of ear discharge, perforation or any ear surgery. It can lead to various complications, both intracranial and extracranial, some of which may be life threatening. Bezold’s abscess is an extracranial complication which is usually seen in children following acute otitis media with mastoiditis. Here we present a rare case of a 60 year old patient with congenital cholesteatoma complicating to Bezold’s abscess. After necessary investigations patient underwent surgery for complete removal of cholesteatoma and the abscess drainage.     

Clear cell odontogenic carcinoma: a diagnostic dilemma

A 26-year-old man presented with a swelling in the right side of face and CT scan revealed a destructive tumor in the right maxilla. Tumor recurred within 5 years of its excision and histopathological examination revealed a clear cell odontogenic carcinoma. The rarity of this tumor, occurrence in maxilla and young age of the patient are some of the rare features which need documentation. The importance of its diagnosis and various differential diagnoses are discussed.     

Endoscopic mucosa resection of a duodenum carcinoid tumor of 1.2 cm diameter: a case report

Carcinoid tumors of the duodenum are rare, and their natural history has not been defined. Duodenum carcinoid can present with various clinical symptoms. It is difficult to diagnose this disease. When duodenum carcinoid is smaller than 1.0 cm, it can be removed by endoscopy. When it is bigger than 1.0 cm, it should be surgically resected. We report a patient who presented with a duodenum carcinoid 1.2 cm in size. As the patient refused surgical resection, we gave him endoscopic mucosa resection. After one-year follow-up, the duodenum carcinoid was found to be completely resected, and the patient had no cancer metastasis.     

Adenocarcinoma arising in an extralobar sequestration: a case report and review of the literature

Extralobar sequestration is a type of bronchopulmonary foregut malformation defined as an isolated portion of lung tissue with a systemic arterial supply, its own pleural investment, and no bronchial communication. While it may be recognized in utero or in the neonatal period, depending on its location and associated anomalies, it can also go unrecognized until later in life when it may present as a mass. We report the first case of adenocarcinoma arising in an extralobar sequestration. The patient was a 70-year old man with a 55 pack year smoking history who presented with chest discomfort and was found to have a 6.5 cm right lower lobe mass. Percutaneous biopsy of the mass was positive for adenocarcinoma. At surgery, the mass was noted to have a separate arterial connection, no bronchial communication, and its own pleural investment, consistent with an extralobar sequestration. Malignancy arising in pulmonary sequestrations is rare and the few reported cases have been in intralobar types. Carcinoma arising in this setting adds to the dilemma of whether or not these developmental anomalies should be excised or followed. Our tumor, while small, did have vascular invasion.     

原发性肝脏淋巴瘤一例诊治讨论

原发性肝脏淋巴瘤(PHL)是一种极其罕见的结外淋巴瘤,目前尚无统一的诊治标准.其临床表现无特异性,容易与肝炎、肝脏原发和继发性肿瘤混淆,病理为诊断的金标准.通常认为该病的治疗与其他部位的结外淋巴瘤相似,应作为全身疾病来考虑,宜采用包括手术、化疗、放疗等在内的综合治疗模式.2014年2月山西医科大学附属肿瘤医院血液病诊疗中心收治1例33岁男性原发性肝脏弥漫大B细胞淋巴瘤患者,经8个周期化疗达完全缓解,至截稿时仍无病生存.     

Alopecia universalis as a side effect of pegylated interferon α-ribavirin combination therapy for hepatitis C: a rare case report

Pegylated interferon α and ribavirin therapy is associated with increased incidence of various systemic and cutaneous side effects. Among the side effects of this therapy, alopecia universalis is a rarely reported side effect which causes significant cosmetic concern to the patient. We report a rare case of alopecia universalis which developed eight weeks after discontinuation of this antiviral combination therapy. This gains importance because it is essential to sensitize the treating gastroenterologist and the dermatologist regarding this rare side effect.