Aplasia cutis: revisão de literatura e relato de caso / Aplasia cutis: literature review and case report

Aplasia cútis congênita (ACC) é uma doença rara, caracterizada pela ausência de formação completa da pele. Geralmente ocorre no couro cabeludo, na linha mediana, e se apresenta ao nascimento como uma ferida que pode atingir diferentes profundidades e envolver o periósteo, crânio e dura-máter. Apresentamos dois casos de recém-nascidos com aplasia cútis congênita no couro cabeludo que foram tratados no Centro de Atendimento Integral ao Fissurado Lábio Palatal de Curitiba- Paraná. Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura, a padronização do tratamento ainda é incipiente. O propósito do presente trabalho é realizar uma revisão da literatura sobre os aspectos epidemiológicos, diagnóstico e formas de tratamento da ACC de couro cabeludo.

Aplasia cutis congenital (ACC) is a rare disease characterized by the absence of skin formation. Usually occurs on the scalp, in the midline, and presents at birth as a wound that can reach different depths and can involve the periosteum, skull and dura. We present two cases of newborns with congenital cutis aplasia on the scalp that were treated at the Center for Integral Assistance of Cleft Lip and Palate Curitiba-Paraná. Due to the rarity of ACC and the small number of patients in published series in the literature, standardization of treatment is still a challenge. The purpose of this paper is to review the literature on the epidemiology, diagnosis and treatment modalities of ACC of the scalp.

Combination micrografting and tattooing in the reconstruction of eyebrows of patients with craniofacial clefts.

The absence of an eyebrow, either partial or total, has been observed in patients with craniofacial clefts, such as the Tessier 9 to 13 cleft. Several techniques have been used to improve the appearance of the region, such as island scalp flaps and scalp strip grafting, with limited or marginally satisfactory aesthetic results. The authors report 2 patients with craniofacial clefts in whom a novel technique combining 2 separate surgical approaches, micrografting and tattooing, was used. The use of micrografting with single or double hair units, properly angulated, produces natural-looking and satisfactory results with a minimum of morbidity. Excellent volume and appearance of the eyebrow may be achieved in a single session using this technique. Tattooing performed subsequently over the microimplanted hairs provides the illusion of greater density to the eyebrow, resulting in an appearance closer to normal.

Epignathus: two cases.

Epignathus is a rare congenital nasopharyngeal tumour that is derived from the upper jaw, palate, and sphenoid bone. It usually protrudes through the mouth, leading to an appreciable risk of obstruction of the upper airway and death soon after birth. We report two cases of unusual presentations that illustrated some uncommon and similar characteristics. Although these tumours are not consistent in origin, number, and differentiation of tissues, both contained structures that were derived from all three layers of germ cells, including different anomalous tissues internally (dental bud, fat and muscular tissues, mucosal epithelium). Externally, they contained normal epidermis (skin with fine hairs). Imaging studies and operative findings showed that both tumours originated from the anterior portion of the sphenoid bone causing a sphenoidal sinus cleft without intracranial communication.

Ventral extradural spinal meningeal cyst causing cord compression: neurosurgical treatment.

Spinal extradural meningeal cysts are typically formed by a thin fibrotic membranous capsule, macroscopically similar that of an arachnoid membrane, filled by cerebro spinal fluid and related to a nerve root or to the posterior midline. Ventral location is extremely rare and when it occurs they usually cause spinal cord herniation through the ventral dural gap. A 61 year-old man who began with a two years long history of insidious tetraparesis, spasticity and hyperreflexia in lower extremities, and flaccid atrophy of upper limbs, without sensory manifestations, is presented. Investigation through magnetic resonance imaging demonstrated an extensive spinal ventral extradural cystic collection from C6 to T11. The lesion was approached through a laminectomy and a cyst-peritoneal shunt was introduced. The cyst reduced in size significantly and the patient is asymptomatic over a 48 months follow-up. This is the first reported case of a spontaneous ventral extradural spinal meningeal cyst causing cord compression. Cyst-peritoneal shunt was effective in the treatment of the case and it should be considered in cases in which complete resection of the cyst is made more difficult or risky by the need of more aggressive surgical maneuvers.

[Prognostic factors in the treatment of the intradural extramedullary tumors: a study of 44 cases]. / Fatores prognósticos no tratamento dos tumores intradurais extramedulares: estudo de 44 casos.

Between 1993 and 1999, 44 patients submitted to resection of an expansible intradural extramedullary lesion who filled protocol requirements of appropriate follow up were studied. Patients were constituted by 43.2% female and 56.8% male. The mean age was 32.9 years old. Lesion most common location was at the thoracic spine, with 45.5% of the cases, followed by the lumbar level with 18.2%. Tumor extension varied from 1 to 7 vertebral segments, with an average of 2.5 levels. Schwannoma, with 65,9% of the cases, was the most frequent lesion, followed by meningioma with 20.5%. There were 2 cases of neurofibroma and 1 case of paraganglioma, neuroenteric cyst, metastasis and malignant schwannoma. The evolution was of improvement in 56.8%, stability in 31.8% and of worsening in 11.4%. There was no mortality related to the surgical procedure. All cases of worsening had total resection and they had lesions located in the thoracic segment. Total resection is the ideal modality of surgical treatment. However, at the thoracic level, where the peculiarities of spine irrigation prevail, surgical morbidade may be higher (p=0.014).

Fatores prognósticos no tratamento dos tumores intradurais extramedulares: estudo de 44 casos / Prognostic factors in the treatment of the intradural extramedullary tumors: a study of 44 cases

Entre 1993 e 1999 foram estudados 44 pacientes que preencheram requisitos protocolares de seguimento adequado e que foram submetidos a ressecção de processo expansivo extramedular intradural. Os pacientes eram constituídos por 43,2 por cento de mulheres e por 56,8 por cento de homens. A média da idade foi 32,9 anos. A localização da lesão foi mais comum na região torácica, com 45,5 por cento dos casos, seguida da lombar com 18,2 por cento. A extensão tumoral variou de 1 a 7 segmentos vertebrais, com uma média de 2,5 níveis. O schwanoma foi o tipo histológico mais comum com 65,9 por cento, seguido dos meningiomas com 20,5 por cento. Houve 2 casos de neurofibroma e 1 caso de paraganglioma, cisto neuroentorico, metástase e schwanoma maligno. A evolução foi de melhora em 56,8 por cento, estabilidade em 31,8 por cento e de piora em 11,4 por cento. Não houve mortalidade relacionada ao procedimento cirúrgico. Todos os casos de piora tiveram ressecção total e eram localizados no segmento torácico. A ressecção total é a modalidade ideal de tratamento cirúrgico. No entanto, no nível toracico, onde predominam as peculiaridades de irrigação da medula, a morbidade cirúrgica pode ser mais elevada (p=0,014)

[Magnetic resonance imaging of the intraventricular cavernomas: diagnostic aspects]. / Ressonância magnética dos cavernomas intraventriculares: aspectos diagnósticos.

Cavernomas are vascular malformations that typically affect the white matter of cerebral hemispheres and brain stem. They are angiographically occult lesions that depend on magnetic resonance imaging (MRI) for their diagnosis, presenting a hypointense perilesional ring caused by hemossiderin deposition as seen in T2 sequences. The ventricular location is rare, and image features may differ. We present two cases with diagnosis made only by histopathologic examination, due to a lack of classic image findings. Cavernous hemangiomas must be included in the differential diagnosis of intraventricular tumors, and total surgical resection is the treatment of choice. Perilesional ring as demonstrated by MRI, must not be expected when dealing with such lesions.

Ressonância magnética dos cavernomas intraventriculares. Aspectos diagnósticos / Magnetic resonance imaging of the intraventricular cavernomas: diagnostic aspects

Cavernomas säo malformações vasculares que frequentemente acometem a substância branca dos hemisférios cerebrais e tronco encefálico. São angiograficamente ocultas e têm como principal método diagnóstico a ressonância magnética, em que tipicamente se observa nas sequências ponderadas em T2, um halo perilesional hipointenso devido a deposiçäo de hemossiderina no tecido adjacente. A localizaçäo ventricular é considerada rara, e suas características de imagem na ressonância magnética diferem, podendo näo apresentar tal halo. Apresentamos dois casos nos quais o diagnóstico foi feito somente com exame histopatológico, devido a ausência dos critérios de imagem que permitiriam a suspeita de tal lesäo. Os cavernomas devem ser incluidos no diagnóstico diferencial dos processos expansivos intraventriculares, sendo a ressecçäo cirurgica completa a melhor modalidade de tratamento para estas lesöes

[Prognostic factors in the treatment of intramedullary spinal cord tumors]. / Fatores prognósticos no tratamento dos tumores intramedulares.

Between 1993 and 1999, in the Divisions of Neurosurgery of the Hospital Nossa Senhora das Graças and the Hospital de Clínicas in Curitiba, Paraná, Brazil, 35 patients harboring intramedullary spinal cord tumors who were submitted to microsurgery were analyzed. There were 24 males (68.6%) and average age was 32.9 years. The main location, with 40% of cases, was the thoracic level, followed by cervical and cervico-thoracic levels with 25.7%. Neurological exam, carried out between 6 and 12 months after surgery, showed that 42.9% of patients improved, 34.3% were stable and 22.9% presented neurological worsening. Total resection was obtained in 57.2% of cases and subtotal in 37.1%. In 5.7% of patients a biopsy was the accomplished procedure. Total resection was more often obtained among patients with ependymomas (13 out of 17) than with astrocytomas (5 out of 12). However, degree of resection and tumor histology did not interfere in postoperative morbidity. Factors as sex, age and tumor's size also did not demonstrate significance in predicting prognostic after surgery, whereas tumor in a thoracic level was associated with higher morbidity (p=0.021).

Fatores prognósticos no tratamento dos tumores intramedulares / Prognostic factors in the treatment of intramedullary spinal cord tumors

Entre 1993 e 1999, foram analisados 35 pacientes submetidos a microcirurgia para remoçäo de tumor intramedular nos Serviços de Neurocirurgia do Hospital Nossa Senhora das Graças e do Hospital de Clínicas de Curitiba - PR. A populaçäo foi composta por 68,6 por cento de pacientes do sexo masculino; a média de idade era de 32,9 anos. A localizaçäo tumoral mais frequente foi torácica em 40 por cento dos casos, seguida pela regiäo cervical e cervicotorácica em 25,7 por cento. Ao exame neurológico realizado entre 6 a 12 meses do pós-operatório, 42,9 por cento dos pacientes demonstraram melhora, 34,3 por cento permaneceram estáveis e 22,9 por cento dos casos apresentaram piora. A ressecçäo foi total em 57,2 por cento dos casos e subtotal em 37,1 por cento. Em 5,7 por cento dos pacientes, foi realizada apenas biópsia para diagnóstico. O grau de ressecçäo completa foi maior nos ependimomas (13 de 17 casos) e menor nos astrocitomas (5 de 12 casos). Entretanto, o grau de ressecçäo e o tipo histológico näo interferiram na morbidade pós-operatória. Fatores como sexo, idade e tamanho do tumor também näo demonstraram importância na evoluçäo após a cirurgia. A localizaçäo torácica do tumor foi associada a maior morbidade cirúrgica (p=0,021)

Meningiomas em pacientes pediátricos: relato de 2 casos / Meningiomas in pediatric patients: report of 2 cases

Os meningiomas correspondem de 1 por cento a 4 por cento das neoplasias intracranianas primárias em pacientes pediátricos; a incidência nesta população aumenta de acordo com a faixa etária. Não há predominância quanto ao sexo, ao contrário do que acontece na população adulta onde predominam no sexo feminino. Relatamos dois casos de meningioma em crianças, discutindo os aspectos clínicos, radiológicos e histológicos desta entidade. O primeiro paciente é do sexo masculino, com 2 anos de Idade e apresentava com crises convulsivas há 4 meses. Os exames de imagem revelaram uma lesão expansiva de 20 mm na região parieto-occipital direita, a qual foi totalmente ressecada. Os exames histológico e imunohistoquímico definiram o diagnóstico de meningioma. Atualmente, 17 meses após a cirurgia, o paciente encontra-se bem, sem evidências de recidiva tumoral. O segundo paciente é do sexo feminino, com 11 anos, e queixava-se de cefaléia frontal há 2 anos. Os exames radiológicos demonstraram presença de lesão expansiva de 5 cm em região frontal direita. Realizou-se craniotomia frontal com ressecção total do tumor. O diagnóstico histológico foi de meningioma. Atualmente, 20 meses após a cirurgia, encontra-se sem evidência de recidiva tumoral. Os autores discutem ainda o tratamento e prognóstico dos meningiomas pediátricos ressaltando que apesar de incomuns, estes devem fazer parte do diagnóstico diferencial de lesões intracranianas expansivas nesta faixa etária.

Bilateral pallidotomy for generalized dystonia

OBJECTIVE: To evaluate the efficacy and safety of bilateral pallidotomies in five patients with generalized dystonia. BACKGROUND: Generalized dystonias are frequently a therapeutic challenge, with poor responses to pharmacological treatment. GPi (globus pallidus internus) pallidotomies for Parkinson's disease ameliorate all kinds of dyskinesias/dystonia, and recent studies reported a marked improvement of refractory dystonias with this procedure. METHODS: Five patients with generalized dystonias refractory to medical treatment were selected; one posttraumatic and four idiopathic. The decision to perform bilateral procedures was based on the predominant axial involvement in these patients. Dystonia severity was assessed with the Burke-Fahn-Marsden Dystonia Scale (BFM). Simultaneous procedures were performed in all but one patient, who had a staged procedure. They were reevaluated with the same scale (BFM) by an unblinded rater at 1, 2, 3, 30, 60, 90, 120 and 180 days post-operatively. RESULTS: The four patients with idiopathic dystonia showed a progressive improvement up to three months; the patient with posttraumatic dystonia relapsed at three months. One patient had a marked improvement, being able to discontinue all the medications. A mean decrease in the BFM scores of 52,58 percent was noted. One patient had a trans-operative motor seizure followed by a transient hemiparesis secondary to rack hemorrhage; other was lethargic up to three days after the procedure. CONCLUSIONS: Our results show that bilateral GPi pallidotomies may be a safe and effective approach to medically refractory generalized dystonias; it can also be speculated that the posttraumatic subgroup may not benefit with this procedure

Ganglioglioma da medula espinhal: relato de caso / Spinal cord ganglioglioma: case report

Os gangliogliomas säo tumores raros do SNC, compreendendo apenas 2,7 a 3,8 por cento dos tumores primários do SNC e as lesöes medulares perfazem 7,6 a 14,3 por cento do total de gangliogliomas. O tratamento preconizado pela literatura é a ressecçäo total, ficando a radioterapia reservada apenas em casos de progressäo da doença após a cirurgia ou em casos de lesöes de comportamento histológico mais agressivo. Neste artigo relatamos um caso de uma paciente portadora de um ganglioglioma medular envolvendo os níveis T5 a T10 que foi submetida a tratamento cirúrgico em nosso serviço, sendo também realizada revisäo da literatura analisando diversos aspectos, incluindo as diversas modalidades de tratamento indicadas neste tipo incomum de lesäo.