Ectodermal dysplasia: a review and case report

Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, common findings are anodontia or hypodontia, conical teeth, and, consequently, generalized spacing. The patient may suffer from dry skin, hyperthermia, and unexplained high fever as a result of the deficiency of sweat glands. The present review focuses on the clinical manifestations, classifications, and diagnosis of ectodermal dysplasia. A 6-year-old girl, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems and a severe gag reflex. The treatment to improve her appearance and oral function included a removable prosthesis, acid-etch-retained indirect resin composite veneers, and a fixed partial denture.     

Fibrous dysplasia of the jaw bone: a review of 15 new cases and two cases of recurrence in Jamaica together with a case report

Therapy-related late effects are important for therapeutic decisions in pediatric oncology. We quantified the degree of impairment of independence in daily life in children with cancer. The German questionnaire "Fertigkeitenskala Münster/Heidelberg (FMH)" is a standardized tool for measurement of motoric and verbal functioning. A point-score leads to an age-related percentile ranking similar to typical percentiles in pediatrics. We used the FMH in 215 cancer patients (mean age 10.3 years, range 0.5-23.5 years, 56.3% male). Diagnoses were leukaemia (n = 91), bone tumors (n = 33), nephro- and neuroblastoma (n = 21), brain tumors (n = 18), lymphoma (n = 23), rhabdomyosarcoma (n = 11) and others (n = 18). The average time to answer the questionnaire was 4.5 min. Patients with brain and bone tumors showed significant lower percentile scores compared to patients with other diagnoses (p < 0.05). The FMH-scores increased with time since diagnosis (n = 215). This trend was confirmed in a longitudinal study over one year (n = 29). Quantitative assessment of independence and functioning in patients with cancer--especially in multicenter-studies--is possible. Because of therapy-related late effects this seems to be of special importance in brain and bone tumor patients.     

Temporal fibrous dysplasia with labyrinthine involvement. Apropos of a case and review of the literature

A survey to detect anthelmintic resistance in nematode parasites of sheep was conducted on 10 randomly-distributed farms in the Chivhu District, Mashonaland East Province, Zimbabwe. Before the survey, a questionnaire was circulated to the farmers concerning nematode parasite control. Results showed that parasite control using anthelmintic treatment was the only method practised and that the benzimidazoles were the most frequently used anthelmintic drugs. The faecal egg count reduction test was used to detect resistance. The anthelmintic groups tested were benzimidazoles, levamisole and ivermectin. Resistance to benzimidazoles was detected on 6 of 10 farms and levamisole resistance on 2 of 3 farms. Ivermectin resistance was not observed on the farms surveyed. Post-treatment larval cultures indicated that Haemonchus contortus survived administration of fenbendazole, albendazole, oxfendazole and levamisole. A Cooperia sp. strain resistant to albendazole was detected and this is the first report in Zimbabwe of a resistant parasite in this genus.     

Infectious aneurysm due to Listeria monocytogenes: a new case and review of the literature

INTRODUCTION: Infections due to Listeria monocytogenes usually occur in pregnant women, in the elderly and in immunocompromised patients. Arterial aneurysms due to this germ are rare. Only 16 cases have been previously described in the literature. EXEGESIS: We report the case of a patient who had been hospitalized for recurrent fever over the past 3 months. Aortic mycotic aneurysm was diagnosed; blood and aneurysm cultures revealed Gram-positive bacilli consistent with the presence of Listeria monocytogenes. We also review previous reports focusing on infections due to Listeria monocytogenes. Mycotic aneurysms due to this germ are mainly observed in elderly male patients and occur on large arteries. In the present study, only one patient was immunocompromised. Furthermore, all patients who were not operated on died. CONCLUSION: Arterial aneurysm due to Listeria moncytogenes is best managed via surgical resection in combination with antimicrobial therapy. Immunosuppression is not necessary for the development of arterial aneurysm due to Listeria. Bacteriological and histological examinations should be done systematically when surgical resection of an aneurysm is required.     

Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype

Four derivatives of 6-oxo-3,4,4a,5-tetrahydro-3-hydroxy-2,2-dimethylnaphtho-1,2-pyran (1), known as bactericidal, bacteriostatic, fungicidal, fungistatic agents, were synthesized to investigate the effect of substituents on the aromatic ring.     

Cerebral fungal infections in the immunocompromised host: a literature review and a new pathogen--Chaetomium atrobrunneum: case report

OBJECTIVE AND IMPORTANCE: A case of a cerebral abscess, occurring in a patient who had undergone bone marrow transplant, caused by a new pathogen, Chaetomium atrobrunneum, and a review of the literature are presented. Although Aspergillus species are by far the most common fungi found in cerebral abscesses in immunocompromised patients, an increasing number of fungi commonly found in nature but not usually associated with infections in humans have been isolated from cerebral abscesses in these patients. CLINICAL PRESENTATION: A 31-year-old male patient, who had undergone a recent bone marrow transplantation for multiple myeloma, presented 3 months after transplantation with right-sided hemiplegia caused by a left parietal hemorrhagic lesion. INTERVENTION: A biopsy guided by computed tomography showed that the abscess contained the fungus C. atrobrunneum. The final identification of the organism was based on cultures, scanning electron microscopic studies, and consultation with the Fungus Testing Laboratory at the University of Texas Health Science Center, San Antonio, TX. The patient was treated with several antifungal medications but developed uncontrolled cerebral edema, which led to further neurological deterioration and eventual death. CONCLUSION: Cerebral abscesses in the immunocompromised patient may no longer be assumed to be caused solely by Aspergillus species. The literature reveals several rare cases of uncommon fungi found in these abscesses. Only four cases of cerebral infections caused by the genus Chaetomium have been reported. The case presented represents the first time a patient who had undergone a bone marrow transplant with a cerebral abscess was found to be caused by the pathogen C. atrobrunneum.     

Choroidal melanoma: a review and case report

BACKGROUND: Choroidal melanoma is the most common primary intraocular malignancy in adults. The ongoing Collaborative Ocular Melanoma Study (COMS) was designed to provide specific answers for the management of medium and large choroidal melanomas. The present consensus among authorities is that small (< 3 mm thick) suspected choroidal melanomas can be conservatively managed with periodic observation for evidence of growth. CASE REPORT: Dilated fundus examination of a 68-year-old man revealed a pigmented uveal lesion straddling the ora serrata inferiorly at 5:30 in the right eye. It measured 5 mm in diameter with transillumination and 2.89 mm in thickness with B-scan ultrasonography. Questioning a small choroidal melanoma the patient was referred to an ocular oncologist, who confirmed the lesion was suspicious for choroidal melanoma. CONCLUSION: Although there are clinical signs that suggest lesion growth, true growth must be recorded with serial photographs, ultrasound, and transillumination. Active therapy should usually begin once lesion growth is documented.     

Chorea gravidarum: a case report and review

A 23-year-old pregnant Pakistani female presented with hemichorea and hemiballismus at six weeks gestational age. Similar symptoms had occurred during a previous pregnancy resulting in a spontaneous abortion. Chorea gravidarum, a disorder characterized by choreiform and athetoid movement presenting during pregnancy, is rare. In the past, rheumatic disease was generally the etiology, but today, collagen vascular disease should also be considered. Treatments include neuroleptics for symptomatic relief and therapies targeted toward the underlying pathology.     

Riedel's thyroiditis: a case report and review of the literature

Riedel's thyroiditis is a very rare disease of unknown aetiology, occasionally associated with retroperitoneal and mediastinal fibrosis. It is a benign condition, but may be confused with an anaplastic carcinoma of the thyroid. The differential diagnosis with anaplastic carcinoma is assured only by intraoperative biopsy. The Authors report a clinical case: symptoms were a progressive enlargement of the thyroid gland, left recurrential palsy, dyspnoea and dysphagia. The surgical treatment was total thyroidectomy, performed with bilateral neurolysis of recurrent nerves. The patient was also under adjuvant corticosteroid treatment.     

Cryptococcal myositis: a case report and review of the literature

Only rare cases of cryptococcal myositis have been previously reported in the literature. All of these cases have occurred in the setting of human immunodeficiency virus (HIV) infection. We report a case of cryptococcal myositis diagnosed premortem on a needle biopsy in a heart transplant patient undergoing immunosuppressive therapy.     

Atelencephalic microcephaly: a case report and review of the literature

Rapid changes in the circulating blood volume or hemoglobin level during apheresis may pose a risk for healthy individuals donating allogeneic PBSC. In this study, a real-time noninvasive monitor CRIT-LINE was used for continuous monitoring of hematocrit values in a total of 16 aphereses performed in 4 adult (median age 30 years) and 4 pediatric donors (4 years). Donors received recombinant G-CSF (10 microg/kg s.c. for 5 days) for mobilization of PBSC. A CS3000 plus blood cell separator (Baxter) was used in two different procedures. Adults donors were subjected to modified program 1-120 using a combination of the granulocyte chamber and the small volume collection chamber (SVCC), and pediatric donors were subjected to specialized program 4 with a combination of the newly developed small volume separation chamber holder (SVSCH) and SVCC. In all of the procedures for children, the extracorporeal line was primed with 400 ml leukocyte-depleted allogeneic RBC or 200 ml autologous RBC after regular priming with normal saline, whereas none of the adult donors received this treatment. We found a marked contrast in the hematocrit kinetics during apheresis in the two cohorts/procedures. In adults, the initiation of apheresis was followed by an immediate decline in the hematocrit value over the initial 10 min until a stable plateau level was reached (7% decrease). In children, the values decreased slowly but progressively throughout the entire procedure to finally reach a 9% decrease at the completion of apheresis. These data may suggest that the use of SVSCH plus SVCC or priming with RBC can eliminate the abrupt decline in blood hemoglobin levels that occurs during apheresis.     

Gallbladder diverticulum: a case report and review of the literature

BACKGROUND: The clinical significance of the 14 and 6 positive spikes (PS) electroencephalographic (EEG) phenomenon is not well established. This study was performed to provide further data regarding the clinical correlates of the PS, particularly attention-deficit/hyperactivity and somatic symptoms. METHODS: Diagnostic information gathered through structured interviews was compared among four groups of psychiatric inpatients aged 4-17 years who underwent an EEG examination over a 2-year period. Groups consisted of patients with: 1) 14 and 6 PS (n = 25); 2) epileptic discharges (n = 29); 3) slow-wave abnormalities (n = 23); and 4) a normal EEG group age and sex matched to the 14 and 6 PS group (n = 25). RESULTS: Attention-deficit hyperactivity disorder (ADHD) symptoms were significantly more frequent in the PS group (chi 2 = 2.96, p < .05) compared to the other three groups combined. Although somatic symptoms were not increased in the 14 and 6 PS group, anxiety symptoms tended to occur more in this group (chi 2 = 3.50, p < .06). CONCLUSIONS: The PS profile appears associated with ADHD symptoms. Possible treatment implications of this finding (e.g., use of anticonvulsants in ADHD patients with PS) need to be explored.     

Bilateral elastofibroma: a case report and review of the literature

Elastofibroma, or elastofibroma dorsi as it was first described, is an uncommon tumor-like process that characteristically appears as an ill-defined mass in the infrascapular region of elderly patients. This lesion can occur bilaterally and may appear asynchronously. The occurrence of elastofibroma in other anatomic sites has been reported, although with much less frequency. Elastofibromas display typical diagnostic histologic, cytologic, and electron microscopic features. The use of magnetic resonance imaging can lead to a presumptive diagnosis in elderly individuals with suprascapular lesions. It is important to differentiate this lesion from other soft-tissue lesions, such as sarcomas and desmoid tumors. This study presents a case of bilateral elastofibromas in a 72-year-old man and a review of the literature.     

Duodenal phytobezoar: a case report and review of the literature

Phytobezoars are an unusual cause of small bowel obstruction. We report a case of small bowel obstruction due to phytobezoar in a 63 year-old female patient who had undergone gastric surgery (truncal vagotomy with pyloroplasty) for duodenal ulcer disease complicated by gastric outlet obstruction 10 years ago. We diagnosed this bezoar case by radiologic methods and these methods keep their importance for the diagnosis of small bowel obstruction with phytobezoars.     

Hypodontia and nail dysplasia syndrome. Report of a case

The role of radiography and bone scintigraphy in the diagnostic management of suspected scaphoid fracture is controversial. Two strategies were compared for patients with initial negative radiographs: repeated radiography versus selective bone scintigraphy. Using the known positive predictive value of scintigraphy, the sensitivity and specificity of both diagnostic strategies were evaluated in a series of 78 consecutive patients. The kappa value for initial radiographs was 0.76 but decreased to 0.5 for follow-up radiographs. Similarly, sensitivity decreased from 64% to 30% in follow-up radiographs. Specificity of the bone scan was 98%. The best diagnostic strategy in the management of clinically suspected scaphoid fractures consists of initial radiography followed by bone scintigraphy in patients with negative radiographs.