Is Webbing (Pterygia) a Constant Feature in Patients with Escobar Syndrome?

We describe two unrelated patients aged 9 and 12 years. The first patient presented with multiple congenital contractures not associated with webbing (pterygia). Interestingly, his genetic testing showed the typical genotypic criteria of Escobar syndrome (CHRNG heterozygous mutation). The characteristics of the second child were compatible with the phenotypic and genotypic criteria for Escobar syndrome. Both patients manifested the typical facial features suggestive of Escobar syndrome. The aim of this paper is twofold: first, to illustrate that the absence of popliteal webbing is not a sufficient reason to exclude Escobar syndrome in patients with multiple contractures and second, dysmorphic facial features and the presence of certain radiological abnormalities might be considered baseline diagnostic tools in favor of this syndromic entity.     

Surgically Treated Primary Lung Cancer Associated with Brugada Syndrome: Report of a Case

A 71-year-old man with primary lung cancer associated with Brugada syndrome was safely oper-ated on following the placement of an implantable cardioverter defibrillator (ICD). During examinations for Brugada syndrome, a tumor in the apicoposterior segment of the left lung was incidentally detected by chest computed tomography. Following the implantation of an ICD, surgical treatment of the left lung tumor was scheduled. A lung biopsy was thoracoscopically performed and adenocarcinoma was diagnosed based on a frozen section analysis. A left upper lobectomy with lymph node dissection was performed through a standard posterolateral thoracotomy. Ventricular fibrillation, which occurred during the night of the first day following surgery, was successfully managed by the ICD. Received: September 29, 2000 / Accepted: May 15, 2001     

IgG4-Related Lung Disease Exhibiting the Invasion into the Diaphragm: A Case Report

Immunoglobulin G4-related disease (IgG4-RD) is a fibroinflammatory condition which involves various organs. This is a very rare case of IgG4-related lung disease (IgG4-RLD) with the invasion into diaphragm. The patient was a 71-year-old man with a long-term exposure to asbestos who had a mass shadow in the left lower lung lobe, which was suspected to invade the left diaphragm on computed tomography (CT). Positron emission tomography (PET)/CT also presented an avid intake of fluorodeoxyglucose in the mass, which suspected lung cancer. Although bronchoscopic biopsy could not lead to the definite diagnosis, we performed left lower lobectomy combined with the resection of left diaphragm. The specimen showed the features of IgG4-RLD on pathology: the vein stenosis and fibrosis around the vein, the infiltration of IgG4-positive cells, and IgG cells to IgG4 cells ratio of 40%. Furthermore, there were inflammatory cells infiltrating to the diaphragm.     

Spontaneous Pneumomediastinum Presenting with Dysphonia in a Patient with Anterior Spinal Artery Syndrome: A Case Report

ABSTRACT

The presence of spontaneous pneumomediastinum in otherwise healthy adults is an uncommon clinical entity. An unusual case presented in a patient with anterior spinal artery syndrome with paraplegia where progressive dysphonia was the primary presenting symptom. The clinical features, treatment and proposed pathophysiology for this condition are presented.     

Menkes' Kinky Hair Disease Associated with a Large Bladder Diverticulum: A Case Report

We report a 2 year-old boy with Menkes' kinky hair disease associated with a solitary huge bladder diverticulum. To our knowledge this is the first reported case treated successfully by surgical excision under general anesthesia, which has been previously considered hazardous due to the poor general condition of the patient.     

Thymoma Associated with Hypogammaglobulinemia (Good's Syndrome): Report of a Case

A 63-year-old man was admitted to our hospital for treatment of hypogammaglobulinemia with thymoma (Good's syndrome). Tests for immunological function showed an abnormality in humoral immunity with decreases in the proportion of cells bearing B-cell markers in the peripheral blood and bone marrow. The patient was found to have Campylobacter fetus sepsis caused by the hypogammaglobulinemia due to humoral immunodeficiency, and he was given γ-globulin supplement. Thymectomy was performed due to enlarge-ment of the thymoma after 4 years of follow-up and the pathological diagnosis was thymoma of the nonencapsulated, epithelial spindle cell type. Although there was no recurrence of thymoma, the hypogammaglobulinemia remained unchanged and the patient continued to suffer from repeated infections. Thus, we describe the case of a patient with Good's syndrome associated with independent humoral immunodeficiency in whom the effect of thymectomy for hypogammaglobulinemia was negative. In this respect, thymectomy was only beneficial when the thymoma proliferated and seemed to be more threatening than the hypogammaglobulinemia for the patient. Received: May 14, 2001 / Accepted: September 11, 2001     

Cherubism Combined with Epilepsy,Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.     

Successful Treatment of Bilateral Deep Femoral Aneurysms and Multiple Iliac Aneurysms Associated with Severe Aortic Valve Disease: Report of a Case

(Received for publication on July 18, 1997; accepted on Jan. 6, 1998)     

Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery–Dreifuss Muscular Dystrophy: A Case Report and Literature Review

BackgroundEmery–Dreifuss muscular dystrophy (EDMD) is an uncommon, gradually progressive X‐linked myopathy, and it could result in rigid spinal deformity. Only a few case reports have described surgical treatment of cervical hyperlordosis and thoracolumbar kyphoscoliosis secondary to EDMD. We report a rare case of EDMD to present the surgical strategies of severe cervical hyperlordosis and thoracolumbar kyphoscoliosis.Case presentationThe patient was a 22‐year‐old man with EDMD who had severe cervical hyperlordosis and thoracolumbar kyphoscoliosis. A posterior spinal fusion from T9‐S2 was performed to correct the thoracolumbar kyphoscoliosis at the age of 21 years. Six months later, with an anterior C7‐T1 closing wedge bone‐disc‐bone osteotomy and a posterior–anterior–posterior cervicothoracic fusion from C4‐T4, the cervical deformity was corrected, thus achieving a horizontal gaze. During 1.5‐year follow‐up, no loss of correction was observed.ConclusionCervical posterior–anterior–posterior closing‐wedge osteotomy combined with long fusion at thoracolumbar spine can be a reliable surgical technique to correct severe spine deformity in EDMD. This two‐stage revision surgical strategy can help restore a horizontal gaze on the basis of a balanced trunk. Cervical deformity in such patients should be corrected in the first stage considering its role as a “driver” of the global spine deformity.     

Kimura Disease Presenting with Buccal Mass: A Case Report and Literature Review

A 52-year-old man with a 2-year history of left buccal swelling was admitted to our department. An elastic hard oral mass was palpated under the intact buccal mucosa. A CT scan with enhancement revealed a solid mass measuring 2.0 × 1.5 × 1.3 cm between the left masseter muscle and the maxilla. Laboratory examination showed elevated peripheral blood eosinophil count of 1070/μL (12.3%) and serum immunoglobulin (Ig)E level of 1374 IU/mL. Histologic examination of transorally excised mass revealed lymphoid follicular hyperplasia with reactive germinal centers and eosinophilic infiltration with eosinophilic micro-abscesses in the germinal centers. Abundant IgE deposition in a reticular fashion was observed in the germinal centers and c-kit positive mast cells was observed in the paracortical area in the excised mass. The patient was diagnosed with Kimura disease (KD) and treated with oral prednisolone, tapering from 10 mg/day for approximately 8 months. Eosinophil count and serum IgE level decreased to 435/μL (5%) and 520 IU/dL, respectively. He is free from symptoms at the time of this submission. KD, a rare, benign, and chronic inflammatory disorder, occurs predominantly in young male adults in Asia. Patients with KD who presents with buccal mass are relatively rare. Immunohistologic analyses suggested that an allergic reaction played an important role in the etiology of KD in this case.     

Pulmonary Varices Associated with Mitral Valve Disease: A Case Report and Survey of the Literature

A case of pulmonary varices in a 24-year-old man with mitral regurgitation is reported. A brief summary of the literature on pulmonary varices associated with mitral valve disease is presented, with special reference to its etiology and surgical treatment. It is strongly suggested that production of varicosities of the pulmonary vein requires not only increased pulmonary venous pressure but also other local factors. If the patient has symptoms due to mitral regurgitation, operation for mitral valve disease is indicated. Direct operative intervention for the varices should not be performed.     

Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome: A Case Report with Morphologic,Immunohistochemical and Genetic Analysis

Abstract: Synchronous bilateral breast carcinoma (SBBC) and early onset are important characteristics of hereditary cases. The lifetime risk for breast carcinoma in Cowden syndrome (CS) is estimated to be 25–50%. We reported a 44‐year‐old woman presenting SBBC and characteristic mucocutaneous lesions of CS, confirmed by PTEN gene mutation analysis. Bilateral modified mastectomy and axillary dissection were performed. Histopathologic examination revealed a moderate‐differentiated invasive ductal carcinoma with mixed features of luminal A immunophenotype (Estrogen and/or Progesterone Receptors >50% and/or Ki67 < 30% of positive cells). The skin lesions showed the characteristic findings of tricholemmoma. Lack of PTEN expression was observed in all specimens. Sequencing analysis confirmed the presence of PTEN splice‐acceptor site mutation in intron 8 (c.1027‐2A>G), a germline mutation which had not been previously reported in CS. The patient received adjuvant chemotherapy and tamoxifen for 5 years. After 5 years of follow‐up, she persists recurrence‐free. SBBC with early onset suggests a hereditary predisposition. Thus, analysis of PTEN expression abnormality, easily assessed by immunohistochemistry, may be of clinical value to screen those patients with CS.