Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.

A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.

Crossed ataxia: a case report and a diffusion tensor imaging tractography study.

Background and Purpose-Ever since the seminal description of ataxic hemiparesis contralateral to a pontine lesion by Miller-Fisher, the question of why contralesional crossing pontocerebellar fibers do not more frequently produce ipsilesional hemiataxia was raised. The few cases of "quadrataxic hemiparesis" or bilateral leg ataxia remain exceptions.Summary of Case-We report an even more unusual variant, namely "crossed ataxia" of the contralesional arm and the ipsilesional leg subsequent to an anteromedial pontine ischemic stroke.Conclusions-MRI diffusion tensor imaging tractography shows that caudal contralesional crossing pontocerebellar fibers (those for the leg) travel trough the lesion, whereas more rostral fibers (those for the arm) are spared. (Stroke. 2011; 42:e571-e573.)

Hemodialysis for cefepime intoxication: A case report

Introduction: We report a case of cefepime intoxication with acute severe neurologic symptoms, which was treated by temporary hemodialysis. Patients (or Materials) and Methods: Cefepime 2 g BID for endovascular prosthesis infection was prescribed to a frail, chronically ill 88-year-old woman with a serum creatinine of 199 μmol/L and an estimated creatinine clearance of 13 mL/min (Cockroft formula). Two days later, she was transferred to a neurocritical care unit because of acute aphasia, myoclonic jerks, and delirium with a Glasgow coma scale score of 12/15. The following day, in the absence of other causes, cefepime intoxication was hypothesized, and cefepime was withdrawn after a total of 7 doses = 14 g. Over the next 24 hours, two 3-hour hemodialysis (HD) sessions were performed under cefepime concentration monitoring. Results: Cefepime plasma levels were measured by liquid chromatography/ mass spectrometry. There is no validated reference range, but a study (Chapuis T et al, Critical Care, 2010) found a 50% risk of neurotoxicity with residual levels > 15 mg/L. In our patient, levels were 83.3 mg/L 10 hours after last dose, 24.1 mg/L immediately after the first HD session, 13.4 mg/L immediately before the second HD session, and 2.5 mg/L immediately after the second HD session. The patient made a full clinical recovery over the next 48 hours. The 70% to 80% fall in plasmatic levels observed during each HD session is in accordance with literature data (Schmaldienst S et al, Eur J Clin Pharmacol, 2000, and Manyor LM et al, Pharmacotherapy, 2008). According to kinetic simulation, cefepime dropped at a concentration < 15 mg/L 15 hours earlier with HD than it would have without. Conclusion: Neuropsychiatric adverse effects of beta-lactam antibiotics can be easily overlooked by clinicians. One should be especially cautious with their use in very old and frail patients in whom plasma creatinine poorly estimates renal function and cognitive impairment is highly prevalent. Temporary hemodialysis effectively clears cefepime, but its role in hastening clinical recovery may be limited.

Endogenous ocular nocardiosis: an interventional case report with a review of the literature.

We present an illustrative case of endogenous ocular Nocardia (EON) infection in a man with Hodgkin disease treated by chemotherapy who underwent aggressive vitreoretinal surgery for diagnosis and treatment of a subretinal abscess. Visual acuity recovered from hand movements to 20/25. We review the 38 reported cases of EON published between 1967 and 2007, describe the clinical presentation from a systemic and ocular point of view, examine which ocular procedures were successful in identifying the bacterium, and analyze ocular morbidity and the factors affecting successful treatment.

Clival chordoma with an atypical presentation: a case report.

INTRODUCTION: Clival chordomas present with headache, commonly VI cranial nerve palsy or sometimes with lower cranial nerve involvement. Very rarely, they present with cerebrospinal fluid rhinorrhoea due to an underlying chordoma-induced skull base erosion. CASE PRESENTATION: A 60-year old Caucasian woman presented with meningitis secondary to cerebrospinal fluid rhinorrhoea. At first, radiological imaging did not reveal a tumoral condition, though intraoperative exploration and tissue histology revealed a chordoma which eroded her clivus and had a transdural extension. CONCLUSION: Patients who present with meningitis and cerebrospinal fluid rhinorrhoea could have an underlying erosive lesion which can sometimes be missed on initial radiological examination. Surgical exploration allows collecting suspicious tissue for histological diagnosis which is important for the actual treatment. A revision endoscopic excision of a clival chordoma is challenging and has been highlighted in this report.

Primary meningioma of the middle ear: case report.

OBJECTIVE: To report a rare case of primary meningioma of the middle ear. METHOD: We describe the case of a 55-year-old woman who presented with decreased hearing and fullness in the left ear, with a middle-ear mass. We also review the world literature regarding primary extracranial meningioma of the middle ear and its management. RESULTS: Primary middle-ear meningioma, a rare clinical entity, was diagnosed in this patient based on an initial transmastoid biopsy. Magnetic resonance imaging with gadolinium enhancement excluded the presence of an intracranial component. Complete excision of the tumour was achieved using a combined approach tympanoplasty. The patient had an uneventful post-operative course. CONCLUSION: Meningiomas, although rare in the middle ear, need to be included in the differential diagnosis of middle-ear lesions presenting to the otolaryngologist. This case emphasises the management strategy required when dealing with a middle-ear mass.

Lepromatous leprosy: a review and case report

Leprosy is a contagious and chronic systemic granulomatous disease caused by Mycobacterium leprae (Hansen"s bacillus). It is transmitted from person to person and has a long incubation period (between two and six years). The disease presents polar clinical forms (the"multibacillary" lepromatous leprosy and the"paucibacillary" tuberculoid leprosy), as well as other intermediate forms with hybrid characteristics. Oral manifestations usually appear in lepromatous leprosy and occur in 20-60% of cases. They may take the form of multiple nodules (lepromas) that progress to necrosis and ulceration. The ulcers are slow to heal, and produce atrophic scarring or even tissue destruction. The lesions are usually located on the hard and soft palate, in the uvula, on the underside of the tongue, and on the lips and gums. There may also be destruction of the anterior maxilla and loss of teeth. The diagnosis, based on clinical suspicion, is confirmed through bacteriological and histopathological analyses, as well as by means of the lepromin test (intradermal reaction that is usually negative in lepromatous leprosy form and positive in the tuberculoid form). The differential diagnosis includes systemic lupus erythematosus, sarcoidosis, cutaneous leishmaniasis and other skin diseases, tertiary syphilis, lymphomas, systemic mycosis, traumatic lesions and malignant neoplasias, among other disorders. Treatment is difficult as it must be continued for long periods, requires several drugs with adverse effects and proves very expensive, particularly for less developed countries. The most commonly used drugs are dapsone, rifampicin and clofazimine. Quinolones, such as ofloxacin and pefloxacin, as well as some macrolides, such as clarithromycin and minocyclin, are also effective. The present case report describes a patient with lepromatous leprosy acquired within a contagious family setting during childhood and adolescence

Vocally disruptive behavior (VDB) in the institutionalized elderly: A naturalistic multiple case report.

Employing a naturalistic multiple case study approach, we investigated the current clinical practice in the treatment and care of VDB among a convenience sample of 85 patients cared for in specialized old age psychiatric clinics and nursing homes in French and German-speaking Switzerland. We wished to clinically characterize VDB patients, to identify common approaches used to treat VDB in everyday practice, and to explore how the efficiency of the interventions employed was judged by the responsible carers. Data were collected by means of a questionnaire. Most patients with VDB in this study had dementia, of whom 75% had at least one current or premorbid psychiatric disorder and 25% had premorbid personality disorder. A majority of patients received multiple psychosocial care interventions that were often judged to be effective, but the potential of psychosocial interventions is underused. Many patients did not receive psychotropic medication specifically targeted at VDB, but about 70% of all prescriptions were judged to have positive effects. Premorbid psychiatric and personality disorders or traits are likely candidates to be entered into the etiopathogenic equation of VDB and set a new frame for approaches used to treat these underlying disorders.

A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.

Deletions on the short arm of chromosome 4 cause Wolf-Hirschhorn syndrome (WHS) and Pitt-Rogers-Danks syndrome (PRDS). WHS is associated with severe growth and mental retardation, microcephaly, a characteristic facies and congenital malformations. The PRDS phenotype is similar to WHS but generally less severe. Seizures occur in the majority of WHS and PRDS patients. Sgrò et al. [17] described a stereotypic electroclinical pattern in four unrelated WHS patients, consisting of intermittent bursts of 2-3 Hz high voltage slow waves with spike wave activity in the parietal areas during drowsiness and sleep associated with myoclonic jerks. We report a patient with PRDS and the typical EEG pattern and review 14 WHS patients with similar EEG findings reported in the literature. CONCLUSION: Awareness and recognition of the characteristic electroclinical findings in Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome might help in the early diagnosis of such patients.

Cervical nerve root synovial sarcoma in a child with chromosomal (X;18) translocation. Case report and review of the literature.

We report on an 11-year-old female with a history of cervicobrachialgia and progressive weakness of the right arm. Cervical spine MRI showed an enhancing heterogeneous intradural mass occupying the right C6-C7 foramen. She underwent a right C6-C7 foraminotomy with a complete macroscopic removal of the lesion. Pathological examination revealed a synovial sarcoma. Treatment was completed by chemotherapy and proton radiotherapy, and the girl remained free of symptoms for 3 years. After appearance of new symptoms, a local recurrence was confirmed, and despite aggressive treatment with salvage chemotherapy and radiotherapy, the disease progressed beyond medical control, and the child died, 6 years after diagnosis. Early recognition of this rare entity compared to its more benign differential diagnosis is crucial, as an aggressive management is needed.

Multisystem Langerhans' cell histiocytosis (Hand-Schüller-Christian disease) in an adult: a case report and review of the literature.

Langerhans' cell histiocytosis (LCH) is a rare and enigmatic clonal disorder that affects mainly children. It is characterized by single or multiple granulomatous mass lesions composed of cells with the Langerhans' cell phenotype. Clinical presentation and behavior are heterogeneous and can range from a solitary lytic bone lesion (i.e., eosinophilic granuloma) with a favorable course to a fatal disseminated leukaemia-like form, with a wide spectrum of intermediate clinical presentations between these two extremes. Although LCH typically involves the bone, lesions can be found in almost all organs. We are reporting the case of a multisystem LCH in a 47-year-old patient who presented with a panhypopituitarism and diabetes insipidus, and who, 5 years later, developed mandibular, mastoid and femoral lesions. The final diagnosis of LCH was made on mandibular biopsy.

Ignition of a human body by a modest external source: a case report.

A case of sustained combustion of a human body that occurred in 2006 in Geneva, Switzerland, is presented. The body of a man was discovered at home and found to have been almost completely incinerated between the knees and the mid-chest, with less damage to the head, arms, lower legs and feet. His dog was also found dead just behind the house door. The external source of ignition was most likely a cigarette or a cigar. The chair in which the man had been sitting was largely consumed while other objects in the room exhibited only a brown oily or greasy coating and were virtually undamaged. Toxicological analyses carried out on the blood from the lower legs showed low levels of desalkylflurazepam. Alcohol concentration was 1.10 per thousand, carboxyhaemoglobin levels were 12% and cyanide concentration was 0.05 mg/L. Toxicological analyses carried out on the dog's blood showed carboxyhaemoglobin levels at 65%.

Ellis-Van Creveld Syndrome. Case report and literature review

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes