Ruptured renal arteriovenous malformation successfully treated by catheter embolization: a case report

Background

Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely.

Case presentation

In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, angiokeratomas, cardiac and neurological manifestations, an end-stage renal disease and he had low α-galactosidase A activity. We detected, in this subject, the mutation c.493 G?>?C in the third exon of the GLA gene which causes the amino acid substitution D165H in the protein. This mutation affects the amino acid - belonging to the group of buried residues - involved, probably, in the preservation of the protein folding. Moreover, studies of multiple sequence alignment indicate that this amino acid is highly conserved, thus strengthening the hypothesis that it is a key amino acid to the enzyme functionality. The study of the relatives of the patient showed that, surprisingly, none of the members of his family of origin had this genetic alteration, suggesting a de novo mutation. Only his 11-year-old daughter - showing acroparaesthesias and heat intolerance with reduced enzymatic activity - had the same mutation.

Conclusions

We suggest that a non-inherited mutation of the α-galactosidase A gene is responsible for Fabry disease in the patient who had reduced enzyme activity and classical clinical manifestations of the disease. In a family, it is rare to find only one Fabry disease affected subject with a de novo mutation. These findings emphasize the importance of early diagnosis, genetic counselling, studying the genealogical tree of the patients and starting enzyme replacement therapy to prevent irreversible vital organ damage that occurs during the course of the disease.     

Coil embolization of intralobar pulmonary sequestration - an alternative to surgery: a case report

Background

Pulmonary sequestration is a congenital lung disease characterized by nonfunctioning pulmonary tissue that lacks normal communication with the bronchial tree and is supplied by a nonpulmonary systemic artery. Symptomatic bronchopulmonary sequestration is uncommon, seen more frequently in the pediatric population than in adults. It has traditionally been treated with surgical resection; however, a limited but growing number of cases have been treated with angiographic embolization. Given the inherent risks of cardiothoracic surgery, embolization of the anomalous vessel is an enticing alternative treatment. We present a case of a 56-year-old woman with known, symptomatic, intralobar pulmonary sequestration that was successfully treated with coil embolization.

Case presentation

A 56-year-old Pacific Islander woman with a history of chronic myeloid leukemia was admitted to the hospital with an episode of hemoptysis. Computed tomography of the chest demonstrated left lower lobe intralobar pulmonary sequestration fed by a large tortuous vessel branching off of the descending thoracic aorta. Surgical resection of the sequestration is the current standard treatment strategy of symptomatic intralobar pulmonary sequestration. The cardiothoracic surgeon noted that given the size and location of arterial blood supply, intervention would involve thoracotomy and lobectomy. The interventional radiologist offered embolization of the lesion as an alternative to surgery. Multiple coils, 6–13 mm in size, were used to embolize the sequestration. No considerable flow distal to the coils was noted postembolization.

Conclusions

Intralobar pulmonary sequestration is a rare condition that typically requires surgical management. This case demonstrates the efficacy of coil embolization as an alternative management strategy. To date, limited case reports of adults treated with endovascular embolization exist. Treatment of symptomatic pulmonary sequestration with embolization can be considered as an alternative to surgical resection.

     

Deltovertebral flap to cover a large scalp defect: case report.

A deltovertebral flap based on the perforating cutaneous branches of the posterior intercostal vessels (the exact opposite of the deltopectoral flap) was used successfully to cover a large scalp defect. The procedure is a rather hazardous one, due to the numerous stages and the awkward postoperative position. However, it may be used to repair the lateral aspect of the neck or the occipital region when a flap is necessary and other methods are not feasible.     

Congenital iodide organification defect accompanied by a large nodular goiter: a case report

A girl who had a nontoxic diffuse goiter with a congenital organification defect of iodide was first seen at the age of 8 years, and since then she has been followed up for a long period. The nodularity of the thyroid gland had gradually progressed, because of intermittent failure of ingestion of thyroid hormone preparation which was followed by excess TSH secretion. 18 years later, a nodular goiter developed and the patient underwent subtotal thyroidectomy. In order to prevent the development of nodular change in the thyroid gland in this disorder, supplemental thyroid hormone medication should be started as soon as the diagnosis is confirmed, and the therapy should be carried out regularly.     

Myeloid sarcoma and adenocarcinoma of the large bowel as collision tumors: a case report

Myeloid sarcoma is a rare tumor composed of myeloid cells, localized in an extramedullary site, which may be associated with a concurrent myeloid neoplasm involving the bone marrow, although such an association is not required. Most patients present with acute myeloid leukemia and their prognosis is poor. We describe the case of a 76-year old woman with an adenocarcinoma of the right colon infiltrating the subserosa synchronous with a myeloid sarcoma at the same site; one pericolic lymph node was infiltrated by both tumors. The peculiarities of this case are the clinical presentation (as an acute abdomen due to subserosa infiltration by the myeloid sarcoma), the coexistence of a myeloid sarcoma with an adenocarcinoma of the right colon, and the absence of progression to acute leukemia. Coexistence of myeloid sarcoma and adenocarcinoma in the colon is probably incidental, and so it appears likely that the two different tumours arose from different mechanisms. However, a possible common background is conceivable. Some authors have found that p53 has a pivotal role in driving the maturation of myeloid stem cells and p53 is, also, involved in colon carcinogenesis. In our case, it may be hypothesized that synchronous heterogeneous mutations occurred in different types of committed cells or in stem cells secondary to p53 loss. Since only one case report has evaluated the correlation between myeloid sarcoma and adenocarcinoma of the large bowel, further immunohistochemical and molecular studies are needed to clarify the pathogenetic relationship between them.     

骨髓中检出组织胞浆菌1例

组织胞浆菌（Histoplasma capsulatum）是一种深部真菌,可引起人体深部组织胞浆菌病。最近我们从1例患者骨髓涂片瑞氏染色、PAS染色、骨髓病理活检中检出组织胞浆菌,现予报道。     

Fetus-in-fetu: report of a case

A 5 month-old female was brought to our clinic because of diarrhea and abdominal distension. A plain radiograph demonstrated a mass with a vertebral column in the right upper quadrant of the abdomen. At operation a mass was found to be retroperitoneal, well encapsulated, and connected to the abdominal aorta of the host by two small vessels; no other connections and adhesions were seen between the mass and the host. The ovaries, uterus, and other pelvic and abdominal viscera of the host were normal. The mass was diagnosed as a fetus-in-fetu. The fetus-in-fetu, encapsulated with an amniotic capsule, was covered with skin and had a top with long hair, two protuberances, an amniotic hernial sac, upper limbs with syndactylic fingers, a gluteal region, and lower limbs with polysyndactylic toes. A brain mass and a spinal cord were identified in the cranial cavity and the vertebral canal. Several spinal ganglia and a nerve plexus were found. A noselike structure, upper lip, maxillalike bone with teeth, tonguelike structure, intestines, ribs, bones of the extremities, and skeletal muscles were also identified. A cloacalike cyst was observed to have an opening in the external female genitalia. Microscopically, a small number of motor neurons were seen in the brain mass and the anterior horn of the spinal cord. In the spinal ganglia, ganglion cells were differentiated. The submucosal and myenteric plexuses were seen in the intestinal wall. Well-differentiated muscle fibers were often accompanied with myelinated nerve fibers. Hematopoiesis was observed in the cranial bone marrow. The presence of the sex chromatin was confirmed in the nuclei of motor neurons and polymorphonuclear leukocytes. Thus, the present fetus-in-fetu, which was connected to the abdominal aorta of the host by two vessels, was a monozygotic twin which developed within its own amniotic cavity.     

A case report of a 24-year-old male with a large hemorrhagic pericardiai effusion

Although bloody pericardial effusion often suggests neoplasia,such an event is not rare in tuberculosis (TB),especially in those countries with a high TB disease burden.Meanwhile,TB accounts for 50％ and greater than 90％ of large pericardial effusions in human immunodeficiency virus (HIV)-negative and HIV-positive patients,respectively.Here we report a case of a 24-year-old HIV-negative male who presented with fever and hemorrhagic pericardial effusion.The patient was given presumptive anti-TB treatment before diagnosis was established.Eventually the patient responded well to the anti-TB treatment at the last follow-up and the diagnosis was confirmed by aspirated pericardial fluid culture on LowensteinJensen (LJ) medium.     

A case report of a 24-year-old male with a large hemorrhagic pericardial effusion

Although bloody pericardial effusion often suggests neoplasia, such an event is not rare in tuberculosis (TB), especially in those countries with a high TB disease burden. Meanwhile, TB accounts for 50% and greater than 90% of large pericardial effusions in human immunodeficiency virus (HIV)-negative and HIV-positive patients, respectively. Here we report a case of a 24-year-old HIV-negative male who presented with fever and hemorrhagic pericardial effusion. The patient was given presumptive anti-TB treatment before diagnosis was established. Eventually the patient responded well to the anti-TB treatment at the last follow-up and the diagnosis was confirmed by aspirated pericardial fluid culture on Lowenstein-Jensen (LJ) medium.     

Intraocular large B-cell lymphoma. A case report

BACKGROUND: Large cell lymphoma involving the vitreous humor is uncommon, and its diagnosis in the absence of central nervous system disease can be difficult. The major diagnostic difficulties with vitreous washings in the absence of ancillary studies are in the distinction of inflammatory lymphoid infiltrate from intraocular lymphoma or diagnosing lymphoma when only very few neoplastic cells are present. CASE: A 75-year-old, white male sought medical attention for bilateral blurred vision and decreased visual acuity of recent onset. A clinical diagnosis of bilateral uveitis to rule out primary intraocular lymphoma or an infectious process was made, and a right vitrectomy was performed. An unequivocal diagnosis of lymphoma could not be made due to the paucity of neoplastic cells on that specimen. Two months later smears from the Cytospin (Thermo Shandon, Pittsburgh, Pennsylvania, U.S.A.) prepared on the specimen from a left vitrectomy showed a greater number of large, pleomorphic cells. In addition, immunocytochemical staining confirmed the B-cell lineage of the neoplastic cells. Immunoglobulin gene rearrangement analysis performed by the polymerase chain reaction method on the frozen cell pellet from the left vitrectomy demonstrated the presence of a monoclonal B-cell population, confirming the diagnosis of large B-cell lymphoma. CONCLUSION: Vitreous cytology in conjunction with ancillary studies is a sensitive procedure in the diagnosis of intraocular lymphoma.     

Pharyngeal actinomycosis: a case report

Actinomycetes are saprophytic bacteria of the oral cavity. They can produce a rare, chronic, and suppurative process that usually originates from the teeth and mandible and then involve the cervical region, especially in the sub-mandibular area. A case of actinomycosis occurring in the retropharyngeal space in a 74 year-old man is reported. It arose as a swelling behind the third lower left molar that had no lesion. The patient was treated successfully with antibiotic therapy. The clinical presentation and management of the case are discussed and the relevant literature is reviewed.     

Submandibular rhabdomyoma: a case report

BACKGROUND: The cytologic diagnosis of extracardiac rhabdomyoma is frequently hampered by its rarity and resemblance to various tumors. In this regard, the infrequent occurrence has hindered its prompt and early recognition. It is also confused with other tumors because of similarities in clinical and cytologic presentations. CASE: A submandibular rhabdomyoma occurred in an otherwise-healthy, 62-year-old man. The neoplasm was firstly diagnosed by fine needle aspiration cytology (FNAC. Complete local excision without radical surgery was performed. Histologic findings confirmed the cytologic diagnosis of adult rhabdomyoma. Treatment-related complications were minimal, and there was no evidence of recurrent disease 6 years later. CONCLUSION: Helpful FNAC features and immunocytochemical results permitted an early diagnosis and spared the patient unnecessary radical surgery.     

Pseudodiastrophic dwarfism: a case report

On the occasion of one new possible observation of the pseudodiastrophic dworfism observed in a femal newborn, first child of young, non-consanguineous parents, authors discuss the differential diagnosis as well as the problem of genetic counselling in the present case since the child's father is a technician in radiology and exposed to X-rays during 7 years.     

Multicystic nephroma: a case report

BACKGROUND: Cystic nephroma is an uncommon pediatric renal neoplasm. It needs to be differentiated from cystic partially differentiated nephroblastoma and from other renal neoplasms showing extensive cystic change. It is scantily reported in the cytology literature. CASE: A 7-month-old female with a left-sided abdominal lump was diagnosed as having cystic Wilms' tumor on computed tomography. Fine needle aspiration cytology showed cellular smears composed of monomorphic, round to oval cells, suggestive of a small round cell tumor, possibly rhabdomyosarcoma. However, histopathologic examination showed it to be a multicystic nephroma. On review of the cytologic smears, the blastemal component was absent. CONCLUSION: This case highlights 1 extreme and unexpected cytologic appearance of cystic nephroma; it may result in misdiagnosis.