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。     

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.     

Robinow Syndrome: a case report

We report a case with Robinow syndrome which has been rarely reported in the literature. A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome. Elevated levels of both basal and stimulated testosterone and dihydrotestosterone were found along with normal baseline levels of gonadotropins. These endocrinologic studies were suggestive for an androgen insensitivity. Mental and motor development of the infant were normal at 3 and 6 months of age. Because of the high level of consanguineous marriages in Turkey, we may expect a higher incidence of the autosomal recessive form of the syndrome. This gives a high recurrence risk and makes prenatal diagnosis an important option for future pregnancies in the families.     

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.     

Multifocal fibromatosis: a case report

We present of rare case of multifocal fibromatosis in a 52 year-old women. In 1996, she was first evaluated for a tumour of the right breast and on the basis of the surgical specimen the extra-abdominal fibromatosis was diagnosed. Four years later, she was reevaluated for the tumor of the right lung, and then in 2001 for the lesion of the right parietal pleura. Microscopic examination of pulmonary and pleural lesions revealed histological pattern almost identical with the breast tumor. The recurrent lesions were located proximally to the primary one.     

须癣毛癣菌肉芽肿1例

须癣毛癣菌肉芽肿,是由须癣毛癣菌侵入皮肤真皮导致的一种浅部真菌的深在感染。也称为Majocchi肉芽肿,毛囊周围肉芽肿,临床上较少见。作者发现1例,现报告如下。     

Cerebrotendinous xanthomatosis: a case report

BACKGROUND: Cerebrotendinous xanthomatosis is a rare, autosomal recessive, inherited lipid storage disease characterized by accumulation of cholestanol and cholesterol in most tissues. The disease is caused by mutations in the sterol 27-hydroxylase gene, leading to a block in bile synthesis, with accumulation of substrates for this enzyme, including cholesterol, resulting in an increase in the conversion of cholesterol to cholestanol. CASE: A 26-year-old woman presented with gradually increasing bilateral ankle swelling. She had a history of bilateral cataracts and left-sided hemiparesis. She had mental retardation, with a history of delayed milestone development. Her serum cholesterol levels were elevated. Aspiration of both ankle swellings revealed histiocytes and many foreign body giant cells. There were numerous rectangular to rhomboid crystals in the background. CONCLUSION: Very few articles are available on the cytologic features of tendinous xanthomas; hence we tried to highlight these features.     

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.     

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.     

Proboscis lateralis: a case report

A lateral proboscis usually occurs in the region of the inner canthus. We present a case of holoprosencephaly accompanied by an oblique facial cleft and an anterior encephalocele in which a proboscis lateralis occurred in a very lateral location.     

Acitretin embryopathy: a case report

BACKGROUND: Acitretin is an aromatic retinoid analog of vitamin A. Drugs of this group are well-known teratogenic agents. Nevertheless, acitretin embryopathy has been described only in fetuses. CASE: An infant was exposed to 10 mg/day of acitretin from the beginning of pregnancy until the 10th gestational week. At term, the newborn showed the following abnormalities: microcephaly, epicanthal folds, low nasal bridge, high palate, cup-shaped ears, anteverted nostrils, atrial septal defect, and bilateral sensorineural deafness. At 18 months of age, the patient showed microcephaly and neurodevelopmental delay. CONCLUSIONS: Our patient shows a pattern of anomalies resembling that observed in isotretinoin- and etretinate-exposed children. After ingestion, acitretin is partially converted into etretinate, and etretinate is partially metabolized into acitretin. A similar phenotype would therefore be expected after prenatal exposure to either drug. Moreover, in the present case, teratogenic effects were observed even though the dose was lower than in the previously reported acitretin embryopathy cases. Therefore, we propose that different retinoids, acitretin included, produce only one malformation pattern with variable phenotypic expression.     

Tachyarrhythmia in a baboon: a case report

An adult baboon with multiple organ symptomatology and tachycardia was successfully treated with one-time electrical cardioversion. The case is presented to demonstrate the need to include ECG monitoring in diagnostic assessment of primate animals with nonspecific symptoms.     

Pre-Cushing's syndrome: a case report.

A 67-year-old man affected by prostate cancer was incidentally found to have a nodular enlargement of the left adrenal gland without apparent changes in hormonal status. The adrenal mass was found to be scintigraphically active, the radiolabelled compound being concentrated in its context with a consensual suppression of the contralateral uptake. The patient underwent a resection of the adrenal tumor. Histologically and biochemically, the adrenal mass was found to be a non-functioning adenoma. The radioisotopic uptake along with the non-hormonal activity prompted us to call this tumor "Pre-Cushing's syndrome" of the adrenal cortex.     

伊曲康唑治愈泛发性体癣1例

泛发性体癣临床较少见,在临床中诊治本病患者1例,取得了满意疗效,报告如下： 1 临床资料 患者男53岁。职员。因腹部出现红斑伴瘙痒渐扩大30余天入院就诊。     

Triptans and troponin: a case report

We report a patient who presented with inflammatory back pain due to multisegmental spondylitis. Following a vertebral biopsy which failed to detect an infectious organism, the patient was treated with etanercept, a tumor necrosis factor (TNF)-α inhibitor, for suspected undifferentiated spondyloarthritis. The back pain worsened and the spondylitic lesions increased. Only in a vertebral rebiopsy with polymerase chain reaction (PCR) amplification of Tropheryma whipplei, the causative agent of Whipple's disease was identified. Tropheryma whipplei should be considered as a cause of spondylitis even with multisegmental involvement and in the absence of gastrointestinal symptoms. In this clinical setting, routine PCR for Tropheryma whipplei from vertebral biopsies is recommended.