Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature

A new infant with classical features of holoprosencephaly and multiple extracranial malformations was found to have abnormal karyotype: 47, XX, + 13. Although trisomy D has been reported in a few cases, our case is the first, to our knowledge, in which positive identification of trisomy 13 was made by banding technique in cebocephaly.     

Primary pulmonary meningioma. Report of a case and review of the literature

Extracranial meningiomas are rare outside the head and neck region. We report a case of primary pulmonary meningioma, initially detected as a radiographic incidental finding, occurring in an asymptomatic 45-year-old woman. Light microscopic examination of both cytologic and histologic preparations was typical of a classical meningioma and included such features as intranuclear pseudoinclusions, psammoma bodies, and cellular whorls. Immunohistochemistry demonstrated tumor cell positivity for vimentin and epithelial membrane antigen, as is characteristic of meningioma. Ultrastructural analysis showed interdigitating cell membranes and desmosomes, with no evidence of basal lamina, neurosecretory granules, or microvilli. On short-term follow-up, the patient is well and has no evidence of a cranial or spinal meningioma. The previous 10 cases reported in the literature had similar characteristics, including a tendency toward occurrence in middle age to older women, asymptomatic presentation, peripheral lung location, and morphologic features. Finally, other conditions in the differential diagnosis and possible histogenesis are discussed.     

Central mucoepidermoid carcinoma. Report of a case and review of the literature

A case of central mucoepidermoid carcinoma (CMEC) occurring in a 68-year-old woman is reported. The tumor clinically appeared as a long-standing cortical swelling in the left angle of her mandible. As an intrabony lesion was radiologically evidenced, an odontogenic cyst was preoperatively diagnosed. Surgical curettage demonstrated a solid tumor the histological study of which allowed the final diagnosis. Immunohistochemical profile accorded with the patterns previously observed in salivary gland counterparts. Adjuvant radiotherapy was performed. Neither local recurrences nor metastases have been observed to date.     

Primary intestinal cryptococcosis mimicking adenomatous polyp in an HIV-negative patient

Primary cryptococcal infection is thought to arise in the lungs, whereas secondary lesions may be found anywhere in the body. Because intestinal involvement is rare, especially in nonimmunocompromised patients, little is known about this localization. Nevertheless, the intestinal tract has long been suggested a possible portal of entry of Cryptococcus neoformans, although the hypothesis has never been sufficiently documented. We report an isolated cryptococcosis of the sigmoid colon mimicking an adenomatous polyp. The lesion has an endoscopic interest, being the first of its kind reported in the literature, and a more important pathogenic interest, as it highlights a further pathway of cryptococcal infection, one of major importance in immunocompromised patients.     

Inflammatory fibroid polyp of the stomach. Report of a case

Inflammatory fibroid polyp (IFP) is a rare lesion of the gastroenteric tract more frequently occurring at the level of the stomach. The etiopathogenesis of IFP as well as the nature of the cells constituting these lesions remain unknown. Abdominal pain and anaemia due to chronic blood loss are the most common presenting features but neither radiology and CT scanning nor endoscopy are capable to achieve any conclusive diagnostic information. Histologic examination of the specimen obtained by endoscopic or surgical excision is considered to be the only way for the definitive exclusion of a neoplastic nature. A case of IFP treated by means of total gastrectomy is presented.     

Cervical herniation of the lung. Report of a case and review of the literature

Cervical herniation of the apex of the lung into the soft tissues of the neck is a rare finding in the pediatric age group. Whereas in adults the etiology is either post-traumatic or secondary to chronic respiratory disease, in children the condition appears to arise spontaneously as the result of a congenital defect in the costovertebral fascia. Surgical treatment is rarely indicated unless there is evidence of incarceration, or progressive increase in size with resultant cosmetic deformity.     

Traumatic rupture of duodenal diverticulum. Report of a case and literature review

Duodenal diverticulum is a common anatomic abnormality. Its inflammatory perforation is a rare complication, with less than 100 cases reported in the available literature. Traumatic perforation is exceedingly rare (only 3 cases reported). In this report one more case of traumatic perforation is presented, and the literature is reviewed focusing on the pathogenic, diagnostic and therapeutic aspects of this severe disease.     

Primary angiosarcoma of the heart. Report of a case and review of the literature

We report on a 44-year-old male with primary cardiac angiosarcoma who died 11 months after onset of nonspecific symptoms (thoracic pain and general fatigue) of intracerebral metastases. A right atrial tumor mass and a pericardial effusion could be demonstrated by transthoracic and transesophageal echocardiography. Cardiac angiography showed a right atrial hemangioma, fed by the right coronary artery. In a review of 108 cases of primary cardiac angiosarcoma we summarize clinical features, diagnostic means, therapeutic approaches and life expectancy of this rare disease.     

Colon carcinoma metastatic to the trachea. Report of a case and a review of the literature

It is known that myasthenia gravis is improved by cold. In two previously reported studies performed on a limited number of myasthenic patients and controls, local cold application to the eyelid was suggested for use as a diagnostic test for ocular myasthenia gravis. In this study, ice test to the eyelid was evaluated as a diagnostic test on 12 myasthenic patients and 15 controls with blepharoptosis and the results were compared with those of edrophonium test.     

Primary carcinoma of the male urethra. Report of a case and review of the literature

Contribution of one case of epidermoid carcinoma of the urethra in a 47-year old male with a several years old urethral stenosis. The significance of urethroscopy and the obtention of biopsies for diagnosis is emphasised. Also a review is made of the existing literature on the different therapeutical alternatives.     

Bilateral cerebral mycotic aneurysm in a child. Report of a case and review of the literature]

Bronchial provocation tests by "occupational" exposure to flour provoked dual asthmatic reactions accompanied by rhinitis in two atopic bakers engaged in the manufacture of bread and pies. Ingestion tests with uncooked flour produced no reactions. Skin prick tests with aqueous extracts of flour produced positive immediate reactions in both bakers, and negative reactions in nine of ten atopic asthmatic control subjects with no occupational exposure to flour. Intracutaneous tests, performed in one precipitin negative baker, gave dual responses. Precipitating antibodies to an aqueous extract of flour were found in the unconcentrated serum of the other baker, and not in ten control subjects.     

Spontaneous splenic rupture due to heparin. Report of a case and review of the literature

Pneumonia due to Listeria monocytogenes is extremely uncommon. We report the case of an 87-year-old woman with no underlying immunosuppressive disease who presented with listerial pneumonia. Cutaneous anergy and a decrease in total lymphocyte count in this elderly woman could predispose her to listerial infection.     

Carcinosarcoma arising in eccrine spiradenoma of the breast. Report of a case and review of the literature

Although the vast majority of eccrine spiradenomas behave in a benign fashion, 23 cases of malignant transformation have been reported to date. We describe a unique example of malignant eccrine spiradenoma that arose in the right breast of a 68-year-old woman. The quiescent mass, which was present for approximately 50 years, experienced sudden enlargement with erythematous changes of the overlying skin and nipple discharge. Microscopically, the tumor showed the typical features of an eccrine spiradenoma with areas of adenocarcinoma, squamous cell carcinoma, and sarcoma. The sarcomatous component consisted of rhabdomyosarcoma and osteosarcoma. The immunoperoxidase staining revealed p53 protein expression only in the carcinomatous and sarcomatous components. This suggests that accumulation of p53 protein may be an important event in the malignant transformation of spiradenomas. Because of its location and biphasic nature, this malignant eccrine spiradenoma should be distinguished from metaplastic breast carcinoma. To our knowledge, this represents the first carcinosarcomatous transformation of eccrine spiradenoma in the breast. This case led us to conclude that breast tissue, which often undergoes apocrine metaplasia and gives rise to apocrine neoplasms, is also capable of originating benign and malignant tumors with eccrine sweat duct phenotype.     

Primary fallopian tube carcinoma. Report of a single case with review of the literature

The mean survival rates of female BDF1 mice transplanted intravenously (i.v.) with murine L1210 leukemia cells were significantly prolonged by intraperitoneal (i.p.) pretreatment (before i.v. transplantation) or by i.p. pre- and post-treatment (before and after the i.v. transplantation) with heat-killed Actinobacillus suis cells ATCC 15557 (AS 15557) alone, as compared with untreated L1210-leukemia-cell-bearing control mice. However, significant prolongation of the mean survival rates was not elicited by the i.p. post-treatment with AS 15557 alone. When 5-fluorouracil (5-FU) was applied i.p. to mice receiving post-treatment with AS 15557 alone, the mean survival rates of the L1210-leukemia-cell-bearing mice were significantly prolonged. The antileukemic action of AS 15557, alone or in combination with 5-FU, against L1210 leukemia was superior to that of a streptococcal preparation (OK-432) and was almost the same as of bacillus Calmette-Guérin with or without 5-FU. The results suggest the possibility that the synergism of AS 15557 in combination with 5-FU may be dependent on the relationship between the indirect immunological function of AS 15557 and the direct cytotoxic action of 5-FU on L1210 leukemia cells.     

Pharyngeal lipoma with cartilaginous metaplasia (chondrolipoma): a case report and literature review

We report two cases of vasospastic angina associated with anaphylactic reaction caused by nonsteroidal anti-inflammatory drugs (NSAIDs). Both patients exhibited anaphylactic manifestations, such as general rash and urticaria, along with angina pectoris with electrocardiographic ST-segment elevations after suppository administration of diclofenac sodium or indomethacin, the most commonly used NSAIDs. Although these patients had normal coronary arteriograms, intracoronary administration of ergonovine or acetylcholine provoked diffuse coronary artery spasms accompanied by chest pain and ischemic ST-segment changes. It is therefore suggested that an allergic mechanism may be involved as a causative factor of the coronary artery spasm induced by NSAIDs.     

Pediatric intestinal leiomyosarcomas: case report and review of the literature

Primary intestinal leiomyosarcomas in children are rare tumors. Twenty-seven previous cases are documented in the literature with little information available on the treatment, survival, and prognostic factors surrounding these tumors. The authors report the 28th case of pediatric intestinal leiomyosarcoma and its follow-up, that of a newborn presenting with intestinal obstruction. Follow-up from all previously reported cases is not recorded and is needed. Our patient, like most children with this tumor, underwent complete excision with no evidence of recurrence at 5 years. Visceral metastases from these neoplasms are atypical, and recorded long-term prognosis may be favorable, unlike their counterpart in the adult population.     

Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature

Spinal cord compression is an extremely serious complication of hereditary multiple exostoses (HME). A case of HME with compression of the cervical spinal cord is reported. Complete recovery following surgery was achieved. A review of the relevant literature revealed 51 previous cases of HME with cord/cauda equina compression. Most patients were under 30 years of age with more men affected than women. The family history was positive in 60%. The cervical and thoracic areas were predominantly affected, with the symptoms usually developing slowly. Recovery following surgery is to be expected in the majority of cases. In patients with HME and suffering from neurological symptoms, the possibility of spinal cord compression should be considered. Prompt diagnosis and surgical excision provide the best prognosis.