Craniofacial dyssynostosis: description of the first four Spanish cases and review

Craniofacial dyssynostosis (CD) is characterized by premature fusion of the lambdoid and posterior part of the sagittal sutures, and short stature. Thus, the skull shape becomes dolichocephalic with protuberant forehead and either bulging or flat occiput. Facial changes are secondary to the skull defects, and some additional findings have also been described. We report on the first four known Spanish patients. They were unrelated and had Spanish ancestors. In the three previous reports about this syndrome, the authors hypothesized that the frequency of the gene causing CD must be rather high in the Spanish population, and relatively common in areas with Spanish ancestry. We have estimated the minimal birth prevalence of the syndrome in 0.51 per million livebirths. It has been previously suggested that the syndrome is inherited as an autosomal recessive trait, since there were two affected sisters among the nine published cases. Phenotypic variability is discussed in detail in this paper. We also underline several aspects for the anticipatory guidance of affected individuals, especially recommending a neurologic evaluation taking into account the radiologic findings in order to plan early interventions to avoid undesirable consequences of craniosynostosis. It is also recommended to perform additional studies (ophthalmologic, cardiologic, among others) to rule out the existence of associated anomalies, which are more frequent than previously considered.     

Craniofacial dyssynostosis with cryptorchidism and normal stature

We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysostosis syndrome and suggests that cryptorchidism represents part of the syndrome profile and that the presence of normal stature does not preclude the diagnosis. Am. J. Med. Genet. 79:5–7, 1998. © 1998 Wiley-Liss, Inc.     

Mta: review and case report

Anti-Mta, which recognizes an antigen in the MNS blood group system, was detected during prenatal testing of a para 6, gravida 1 woman with no history of transfusions. Her husband was apparently Mt(a-). Anti-Mta was first reported in 1962 as a naturally occurring antibody directed against a new antigen in the MNS system. The last report in the literature of detection of anti-Mta was in 1972.     

Brain cysticercosis: review and case report

After thorough biological, epidemiological and clinical analysis as well as diagnosis and therapy of neurocysticercosis, the Authors describe a case they have encountered. Given the increase in the emigration rate from developing countries, the epidemiological nature of this case indicates that brain parasitosis due to helminths requires more attention. As seen in the last 20 years in the United States, these pathologies might increase significantly in Italy in the near future.     

Urethral duplication: case report and literature review

Urethral duplication is a rare congenital genitourinary abnormality. The purpose of this report is to add to the scanty literature on the subject. We emphasize the significance of high index of suspicion, thorough evaluation, and to discourage circumcision performed by unqualified individuals. A six year old with a finding of urethral duplication is presented along with the review of the literature.The patient presented with of passage of urine from 2 orifices on the penis following circumcision, six months prior presentation. He voids with double streams - clear urine and the other haematuria. Examination revealed a normal primary urethral meatus and an accessory opening on the corona of the dorsal surface of the phallus. No other abnormality detected. Patient had single stage urethroplasty with good outcome. Urethral duplication is rare. Diagnosis requires a high index of suspicion. Optimal knowledge of the duplication is significant for the managing surgeon in order to avoid complications. The overall outcome is good.     

Down-Turner syndrome: case report and review.

We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in patients with Down's syndrome and vice versa. In most of the patients two different cell lines were encountered, although cases with one, three, and even four different cell lines have been reported. Of 28 patients, 21 showed female external genitalia, four were phenotypically male, and three showed ambiguous genitalia. Only six patients (21%) carried a Y chromosome, which is far less than expected.     

Breast chondrosarcoma: a case report and review

Sarcomas of the breast are relatively rare and account for 1% of all primary malignant tumors of the breast. Only 4 cases of pure chondrosarcoma of the breast have been published. We report an additional case in a fifty-seven-year-old woman. Histological and immunohistological characteristics were similar to those described in other localizations. Differential diagnosis involves cystosarcoma phyllodes and breast metaplastic carcinoma with chondroid differentiation. The prognosis is likely to be the same as in other chondrosarcomas.     

Metabisulfite sensitivity: case report and literature review

Sulfiting agents have recently been identified as food and drug additives responsible for adverse reactions. These reactions are not rare and may result in life-threatening asthma and anaphylaxis. We report a 34-year-old female with intractable asthma and urticaria. Sensitivity to sulfites was suspected based on exacerbation after restaurant meals and metaproterenol 5% inhalant solution. Bronchial provocation challenge resulted in a 28% decrease in FEV1 and a 34% decrease in FEF25-75 at the 0.01 mg/ml dose. Thirty-two cases of sulfite sensitivity reported in the literature are reviewed. Foods and drugs containing sulfites are listed. The pathogenic mechanism is unknown. The FDA allows the addition of sulfites to foods and drugs without disclosure. Only recently has this potential hazard been recognized. The FDA is considering a labeling requirement on drugs that do contain sulfites.     

Penoscrotal transposition: A case report and review

We report on a boy born with complete penoscrotal transposition, normal scrotum, twisted penile shaft with hypoplastic penile urethra, meatal stenosis, normal bladder, and bilateral cystic dysplastic kidneys. The patient died of renal failure at 2.5 months. This is the 13th reported case of complete penoscrotal transposition with normal scrotum. The possible pathogenesis is discussed and the literature is reviewed. © 1994 Wiley-Liss, Inc.     

MURCS association: case report and review.

We report on a 25 year old woman with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association). Growth retardation and facial asymmetry were also present. A review of published reports allows MURCS association to be distinguished from related associations, sequences, and syndromes. Moreover, sporadic occurrence, the broad spectrum of associated anomalies, and the involvement of different organ systems closely related in early embryogenesis are arguments for considering MURCS association as the consequence of a developmental field defect.     

Mulvihill-Smith syndrome: case report and review.

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.     

Myxedema ascites: case report and literature review

Myxedema ascites caused by hypothyroidism is rare, so its diagnosis is often delayed and patients frequently receive unnecessary procedures such as liver biopsies and exploratory laparotomies. We report a 71-yr-old man with clinical ascites that was the first manifestation of hypothyroidism, and which resolved completely in response to thyroid hormone replacement therapy. To our knowledge, this is the first report of myxedema ascites in Korea. A review of the literature revealed 51 well-documented cases of myxedema ascites. Analyses of ascites from patients in this condition usually show high protein (>2.5 g/dL) and low white blood cell counts, with a high proportion of lymphocytes. A consistent feature is the good response to thyroid hormone replacement therapy, which has always led to resolution of the ascites. Myxedema ascites is thus rare but easy to treat; it should be borne in mind, especially if the ascites fluid has a high protein content.     

Cervical pregnancy: case report and literature review

Cervical pregnancy is gaining recognition as a serious complication of early pregnancy. In view of the increasing incidence of the condition and the formidable therapeutic problems posed, a review of the literature is timely. This paper also presents a case report illustrating many of the typical features associated with cervical pregnancy.     

Roseomonas gilardii infection: case report and review

Roseomonas gilardii is a bacterium that has been indicated as a rare cause of human infections. The case of a patient presenting with cellulitis and bacteremia secondary to R. gilardii is described together with the clinical characteristics of infection with this organism obtained from a review of cases previously reported.     

Polypoid PEComa: case report and literature review

PEComa group is a heterogeneous group of rare mesenchymal tumors supposed to derive from perivascular cells and characterized by a coexpression of myogenic and melanocytic markers. We describe an 11-year-old female patient presenting a 2?cm ulcerated rectal polyp, exteriorized by anus, which was totally resected. Morphologically, this tumour was composed of cells arranged in nests or large cords separated by fibrous stroma, with abundant clear cytoplasms and with round regular small nuclei without atypia. There was no necrotic area and mitotic activity was very low. Immunohistochemically, the tumours cells stained for HMB45. Only 17 cases have been reported in literature and this case is the 18th. Here, we present a literature review focusing on both malignancy criteria and differential diagnosis.     

Tenosynovial giant cell tumor: case report and review

Tenosynovial giant cell tumors are a group of generally benign intra-articular and soft tissue tumors with common histologic features. They can be roughly divided into localized and diffuse types. Localized types include giant cell tumors of tendon sheath and localized pigmented villonodular synovitis, whereas diffuse types encompass conventional pigmented villonodular synovitis and diffuse-type giant cell tumor. Localized tumors are generally indolent, whereas diffuse tumors are locally aggressive. Recent developments indicate that tenosynovial giant cell tumors are clonal neoplastic tumors driven by overexpression of CSF1. Herein, I report a case of intra-articular, localized tenosynovial giant cell tumor (or localized pigmented villonodular synovitis) and review the classification, histopathology, and recent developments regarding its pathogenesis.     

Strongyloides duodenitis: case report and review of literature

Strongyloides stercoralis affects 30 to 100 million people worldwide and is a common cause of abdominal pain and diarrhea. Strongyloidiasis is a chronic and limited disease; however, in immunocompromised patients, hyperinfection syndrome can occur. Diagnosing strongyloidiasis early is important, as almost all deaths due to helminths in the United States are due to S stercoralis hyperinfection. Patients infected with human immunodeficiency virus (HIV) do not appear to be at an increased risk for S stercoralis hyperinfection. We report a case of an HIV-infected Hispanic woman presenting with dyspepsia, emesis, abdominal pain, and diarrhea diagnosed with S stercoralis on an esophagogastroduodenoscopy biopsy of the duodenum. The diagnostic workup had been inconclusive and deciding to biopsy the small bowel based on the nonerythematous boggy appearance of the duodenal folds was the key step in making the correct diagnosis. Early diagnosis and treatment thwarted the developing hyperinfection syndrome and likely prevented further morbidity and probably saved her life.     

血管内淋巴瘤

目的：探讨血管内淋巴瘤的临床病理特征。方法：对1例血管内淋巴瘤进行免疫表型分析及原位杂交检测与EB病毒的关系,并文献复习,结果：女性,48岁,不明原因发热伴体重下降3个月,CT扫描示子宫肿块而行子宫加双侧附件切除,病理学检查发现瘤细胞位于血管内,伴少许管周浸润,瘤细胞免疫表型CD45（LCA）和CD20（L26）呈阳性表达,原位杂交显示E－BERs阴性,患者经CHOP联合化疗后获得完全缓解,结论：血管内淋巴瘤是一种极罕见的B细胞肿瘤,此瘤的诊断只能依赖病理学检查,治疗上应予以积极联合化疗。