Do You Know This Syndrome?

POEMS syndrome is a unique clinical entity, the diagnosis of which is made when polyneuropathy and monoclonal gammopathy occur together, associated with other changes such as organomegaly, endocrinopathy, skin changes and papilledema. Cutaneous manifestations are heterogeneous, with diffuse cutaneous hyperpigmentation, hemangiomas and hypertrichosis occurring more frequently. We report the case of a 65- year-old female patient with this syndrome, diagnosed after 15 years of disabling peripheral neuropathy.

Multiple Haemangiomas, Diaphragmatic Eventration and Beckwith-Wiedemann Syndrome: An Unusual Association

A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.

Primary neoplasms of the heart. Clinical and histological presentation of 50 cases

OBJECTIVE: To analyze clinical and histologic findings of 50 patients with primary neoplams of the heart in a tertiary referral center. METHODS: From 1980 to 1998, we retrospectively analyzed 50 patients, 32 of whom were females, whose ages ranged from 9 to 73 years (mean age = 44.16±18 years). RESULTS: Most tumors were located in the left side of the heart (72%), myxoma being the most common (84%) histologic type. The other histologic types found were as follows: fibroma (4%), lipoma (2%), rhabdomyosarcoma (2%), hemangioma (2%), sarcoma (2%), angiosarcoma (2%), and lymphoma (2%). Diagnosis was established by echocardiography in 94% of the cases. Clinical findings were as follows: dyspnea (36%), weight loss (20%), palpitations (18%), chest pain (16%), fever (8%), and arthralgia (6%). All patients with thromboembolic phenomena (10%) had left atrial myxoma. Approximately 20% of the patients were asymptomatic at the initial clinical assessment. CONCLUSION: Primary cardiac tumors are a rare entity with diverse clinical and histologic findings, requiring, therefore, a high level of clinical suspicion.

Hemangio-endoteliosarcoma primário do fígado

Os autores descrevem um caso de tumor raro do fígado, em mulher de 49 anos de idade, o qual apresentou a estrutura de hemângio-endotélio-sarcoma, de acordo com a nomenclatura aconselhada por FOOTE. O fígado pesou 1.700 g e era sede de múltiplas formações de dimensões variaveis, de aspecto comparavel ao de hemangioma cavernoso, emitindo metástases pouco numerosas ao baço. Pelo exame microscópico, pode ser reconhecida a estrutura histológica do hemangioma cavernoso associado à proliferação atípica do endotélio vascular, com a propriedade de reproduzir novos e imperfeitos espaços vasculares. No baço, embora em menor extensão, a estrutura é semelhante à observada no fígado. Analisando-se as várias hipóteses referentes à histogênese do tumor, pode-se admitir a sua origem a custa da transformação anaplásica do hemangioma cavernoso do fígado.

Pédiatrie [Pediatrics].

Several preliminary studies suggest that prophylactic administration of probiotics reduces the incidence of necrotizing enterocolitis (NEC) in preterm infants, and several neonatology units have introduced this treatment under strict surveillance. Nonetheless, breast milk feeding remains the mainstay of NEC prevention. The beta-blocker propranolol, known for its effectiveness on cutaneous hemangiomas, is also proving useful for the treatment of subglottic or visceral hemangiomas. Following the decrease in severe bacterial infections thanks to widespread vaccinations, the McCarthy clinical score has regained importance in the prediction of the risk of bacterial infection in febrile infants. It is easy to use, economical, and has a diagnostic value comparable to laboratory tests. The new WHO growth charts have been introduced in Switzerland in 2011 to take into account the increasing regional and ethnic variations in our country. Any significant change in growth velocity should prompt an evaluation of the need of further investigations.

Expression of prox1, lymphatic endothelial nuclear transcription factor, in Kaposiform hemangioendothelioma and tufted angioma.

Kaposiform hemangioendothelioma (KHE) and tufted angioma (TA) are rare tumors mainly occurring in early childhood. Our recent results showed that ectopic overexpression of human Prox1 gene, a lymphatic endothelial nuclear transcription factor, promoted an aggressive behavior in 2 murine models of KHE. This dramatic Prox1-induced phenotype prompted us to investigate immunohistochemical staining pattern of Prox1, podoplanin (D2-40), LYVE-1, and Prox1/CD34 as well as double immunofluorescent staining pattern of LYVE-1/CD31 in KHE and TA, compared with other pediatric vascular tumors. For this purpose, we examined 75 vascular lesions: KHE (n=18), TA (n=13), infantile hemangioma (n=13), pyogenic granuloma (n=18), and granulation tissue (n=13). Overall, KHE and TA shared an identical endothelial immunophenotype: the neoplastic spindle cells were Prox1, podoplanin, LYVE-1, CD31, and CD34, whereas endothelial cells within glomeruloid foci were Prox1, podoplanin, LYVE-1, CD31, and CD34. The lesional cells of all infantile hemangiomas and pyogenic granulomas were negative for Prox1 in the presence of positive internal control. These findings provide immunophenotypic evidence to support a preexisting notion that KHE and TA are closely related, if not identical. Overall, our results show, for the first time, that Prox1 is an immunohistochemical biomarker helpful in confirming the diagnosis of KHE/TA and in distinguishing it from infantile hemangioma and pyogenic granuloma.

Expression of smoothelin and smooth muscle actin in the skin.

INTRODUCTION: Smoothelin is a cytoskeletal protein of differentiated smooth muscle cells with contractile capacity, distinguishing it from other smooth muscle proteins, such as smooth muscle actin (SMA). OBJECTIVE: To evaluate the expression of smoothelin and SMA in the skin in order to establish specific localizations of smoothelin in smooth muscle cells with high contractile capacity and in the epithelial component of cutaneous adnexal structures. Methods: Immunohistochemical analysis (smoothelin and SMA) was performed in 18 patients with normal skin. RESULTS: SMA was expressed by the vascular structures of superficial, deep, intermediate and adventitial plexuses, whereas smoothelin was specifically expressed in the cytoplasm of smooth muscle cells of the deepest vascular plexus and in no other plexus of the dermis. The hair erector muscle showed intense expression of smoothelin and SMA. Cells with nuclear expression of smoothelin and cytoplasmic expression of SMA were observed in the outer root sheath of the inferior portion of the hair follicles and intense cytoplasmic expression in cells of the dermal sheath to SMA. CONCLUSIONS: We report the first study of smoothelin expression in normal skin, which differentiates the superficial vascular plexus from the deep. The deep plexus comprises vessels with high contractile capacity, which is important for understanding dermal hemodynamics in normal skin and pathological processes. We suggest that the function of smoothelin in the outer root sheath may be to enhance the function of SMA, which has been related to mechanical stress. Smoothelin has not been studied in cutaneous pathology; however we believe it may be a marker specific for the diagnosis of leiomyomas and leiomyosarcomas of the skin. Also, smoothelin could differentiate arteriovenous malformations of cavernous hemangioma of the skin

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

OBJECTIVE To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients. METHODS We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94 familial forms and 41 sporadic cases of CCM patients of Spanish extraction. When available, RNA studies were performed seeking for alternative or cryptic splicing. RESULTS A total of 26 pathogenic mutations, 22 of which predict truncated proteins, were identified in 29 familial forms and in three sporadic cases. The repertoire includes six novel non-sense and frameshift mutations in CCM1 and CCM3. We also found four missense mutations, one of them located at the third NPXY motif of CCM1 and another one that leads to cryptic splicing of CCM1 exon 6. We found four genomic deletions with the loss of the whole CCM2 gene in one patient and a partial loss of CCM1and CCM2 genes in three other patients. Four families had mutations in CCM3. The results include a high frequency of intronic variants, although most of them localize out of consensus splicing sequences. The main symptoms associated to clinical debut consisted of cerebral haemorrhage, migraines and epileptic seizures. The rare co-occurrence of CCM with Noonan and Chiari syndromes and delayed menarche is reported. CONCLUSIONS Analysis of CCM genes by sequencing and MLPA has detected mutations in almost 35% of a Spanish cohort (36% of familial cases and 10% of sporadic patients). The results include 13 new mutations of CCM genes and the main clinical symptoms that deserves consideration in molecular diagnosis and genetic counselling of cerebral cavernous malformations.

Intérêt de l'angiographie numérisée au vert d'indocyanine dans le diagnostic différentiel des tumeurs non pigmentées de la choroïde [Value of indocyanine green videoangiography in differential diagnosis of nonpigmented tumors of the choroid]

BACKGROUND: Indocyanine green video-angiography (ICG) is a recent examination technique, its possibilities and limitations as far as intraocular tumours are concerned, haven't been fully explored yet. MATERIAL AND METHODS: We have studied 50 cases of non-pigmented choroidal tumours, including 14 cases of choroidal hemangioma's, 11 cases of posterior uveal metastases and 25 cases of non-pigmented melanoma's. RESULTS: Characteristic images were obtained when examining choroidal hemangioma's and, until a certain point, posterior choroidal metastases. Non pigmented melanoma's on the contrary, presented a great variety of different indocyanine green angiographic pictures. CONCLUSION: Indocyanine green video-angiography (ICG) has a definite value in the differential diagnosis of non-pigmented posterior choroidal tumours.

Prise en charge d'une lésion hépatique découverte fortuitement [The management of an incidental liver lesion]

The widespread use of abdominal imaging technologies has led to an increase in the incidental finding of liver tumors. Most of these lesions are asymptomatic and will not require any treatment. With the use of contrast-enhanced radiological studies, most of the tumors can be reliably diagnosed by non-invasive means. In case of diagnostic uncertainty, patients should not undergo percutaneous biopsy but rather complete resection of the lesion for an unequivocal diagnosis. Such pathologies must be taken charge of in centers with expertise by interdisciplinary teams.

Iris varix as a cause of late-onset inflammation after implantation of a phakic iris claw lens [Irisvarize als Ursache einer verzögerten Entzündung nach Implantation einer Iris-Clip-Linse ins phake Auge]

Implantation of a phakic iris claw intraocular lens is a common, effective and safe procedure to correct high myopia, hyperopia and astigmatism [2]. Due to the nature of its fixation on the iris using claws, chronic irritation and inflammation have remained a major concern with the Artisan® lens since its market introduction in 1998. Following iris claw implantation, monitoring of postoperative inflammation is mandatory [4][7]. Usually, signs of inflammation can be detected in the anterior chamber during the early postoperative period. We present here the first case of late-onset inflammation after implantation of an iris claw lens triggered by an iris varix. The iris varix is a rare benign iris vascular abnormality, with a low prevalence as a solitary primary lesion in the general population and little is known about its clinical characteristics [1][5][6]. This report shows that an iris varix could be a cause of a late onset and chronic inflammation after phakic Artisan® lens implantation.

Cerebellar lesions: is there a lateralisation effect on memory deficits?

BACKGROUND: Until recently, neurosurgeons eagerly removed cerebellar lesions without consideration of future cognitive impairment that might be caused by the resection. In children, transient cerebellar mutism after resection has lead to a diminished use of midline approaches and vermis transection, as well as reduced retraction of the cerebellar hemispheres. The role of the cerebellum in higher cognitive functions beyond coordination and motor control has recently attracted significant interest in the scientific community, and might change the neurosurgical approach to these lesions. The aim of this study was to investigate the specific effects of cerebellar lesions on memory, and to assess a possible lateralisation effect. METHODS: We studied 16 patients diagnosed with a cerebellar lesion, from January 1997 to April 2005, in the "Centre Hospitalier Universitaire Vaudois (CHUV)", Lausanne, Switzerland. Different neuropsychological tests assessing short term and anterograde memory, verbal and visuo-spatial modalities were performed pre-operatively. RESULTS: Severe memory deficits in at least one modality were identified in a majority (81%) of patients with cerebellar lesions. Only 1 patient (6%) had no memory deficit. In our series lateralisation of the lesion did not lead to a significant difference in verbal or visuo-spatial memory deficits. FINDINGS: These findings are consistent with findings in the literature concerning memory deficits in isolated cerebellar lesions. These can be explained by anatomical pathways. However, the cross-lateralisation theory cannot be demonstrated in our series. The high percentage of patients with a cerebellar lesion who demonstrate memory deficits should lead us to assess memory in all patients with cerebellar lesions.

Ressonância magnética dos hemangiomas hepáticos: avaliação das características morfológicas e quantitativas

OBJETIVO: Estudar as características morfológicas e quantitativas dos hemangiomas hepáticos na ressonância magnética. MATERIAL E MÉTODOS: Foram estudados, prospectivamente, 57 hemangiomas hepáticos presentes em 27 pacientes, com ressonância magnética de alto campo (1,5 T) utilizando seqüência spin-eco, imagens ponderadas em T1 e T2, com tempos de eco de até 160 ms. Foram avaliadas as características morfológicas dos hemangiomas, classificando-os em típicos ou atípicos. Também foram avaliadas características quantitativas das lesões (relação intensidade de sinal lesão/fígado, valores de tempo de relaxação T2 e índice simplificado T2) e feitas comparações entre tais características nos hemangiomas morfologicamente típicos e atípicos, e naqueles com dimensões £ 2,0 cm e > 2,0 cm. RESULTADOS: Do total de hemangiomas estudados, 78,9% apresentaram características morfológicas típicas. Não houve diferença significante entre as características quantitativas de hemangiomas morfologicamente típicos e atípicos. Hemangiomas com dimensões £ 2,0 cm e > 2,0 cm apresentaram comportamento semelhante em relação ao tempo de relaxação T2 e ao índice simplificado T2. Valores da relação intensidade de sinal lesão/fígado apresentaram diferenças significantes entre esses dois grupos. Os valores do tempo de relaxação T2, do índice simplificado T2 e da relação intensidade de sinal lesão/fígado caracterizaram corretamente 96,5%, 93% e 89,5% de todos os hemangiomas, respectivamente. CONCLUSÃO: A avaliação quantitativa dos hemangiomas hepáticos nas imagens por ressonância magnética é um método simples e, conjuntamente com a análise morfológica, propicia maior confiança para o diagnóstico.

Timo: caracterização ultra-sonográfica

O timo é uma pequena glândula responsável pela produção de linfócitos T, importante na resposta imunitária do organismo. É órgão relativamente grande no período perinatal e pode estender-se superiormente, atingindo o pescoço, com variantes anatômicas. É possível identificar o timo normal, por meio da ultra-sonografia, pelo acesso supra-esternal, paraesternal e esternal e também na região cervical quando em localização atípica. A partir do início da puberdade, devido à sua involução com diminuição progressiva do seu tamanho e porque o pulmão aerado se interpõe entre o timo e o feixe sonoro, a sua visualização é mais difícil. O padrão da ecotextura normal tímica é característica: hipoecogênico em relação ao parênquima normal da tireóide e apresenta múltiplas estruturas ecogênicas lineares e focais, dispersas pelo parênquima, que correspondem aos septos e vasos sanguíneos. O reconhecimento pela ultra-sonografia de tecido tímico pode ser importante para evitar investigações desnecessárias ou cirurgias num timo normal que mimetiza massa patológica.