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Plexiform neurofibromas of the orbit, sometimes extending to the temporal region and the face, are considered to be a rare but devastating and disfiguring complication of neurofibromatosis type 1. The first symptoms appear in infancy and the involvement of the orbit and the face is present in nearly all children after the age of 5. The disease is unilateral in most cases but can exceptionally involve both sides of the face. Progressive deformation of the orbital frame due to the expanding plexiform neurofibroma and buphthalmos occurs in a large proportion of cases. The associated sphenoidal dysplasia, which is thought to be, according to the most recent hypothesis, genetically determined, will inescapably increase the burden to the orbital content, cause pulsating proptosis and will endanger noble structures, finally resulting in loss of vision. Using the Jackson classification, the authors report their personal series of 22 cases (19 operated). Until now, there has been no effective medical treatment for plexiform neurofibroma and surgery remains the standard care for these patients. Controversies remain about the timing of the first operation and today most multidisciplinary teams involving plastic, maxillofacial, ophthalmologic, and neurosurgeons favor early intervention to try to minimize the secondary deformation of the orbital and facial skeleton. A number of cases of plexiform neurofibromas are illustrated within the three Jackson groups and treatment results of the rare elephantiasis neuromatosa cases are presented. Special techniques such as preoperative embolization of heavily vascularized plexiform neurofibroma are also discussed., (Copyright 2010 Elsevier Masson SAS. All rights reserved.)

Phacomatoses, or neurocutaneous disorders, are a group of congenital and hereditary diseases characterized by developmental lesions of the neuroectoderm, leading to pathologies affecting the skin and the central nervous system. There is a wide range of pathologies affecting individuals at different moments of life. The genetics is variable: while neurofibromatosis 1 and 2, tuberous sclerosis and von Hippel-Lindau disease are all inherited as autosomal dominant traits, Sturge-Weber syndrome is sporadic. Other neurocutaneous disorders can be inherited as autosomal recessive traits (i.e., ataxia-telangiectasia), X-linked (i.e., incontinentia pigmenti) or explained by mosaicism (i.e., hypomelanosis of Ito, McCune-Albright syndrome). In this review, we discuss the major types of neurocutaneous disorders most frequently encountered by the neurosurgeon and followed beyond childhood. They include neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. In each case, a review of the literature, including diagnosis, genetics and treatment will be presented. The lifespan of the disease with the implications for neurosurgeons will be emphasized. A review of cases, including both pediatric and adult patients, seen in neurosurgical practices in the Lille, France and Lausanne, Switzerland hospitals between 1961 and 2007 is presented to illustrate the pathologies seen in different age-groups. Because the genes mutated in most phacomatoses are involved in development and are activated following a timed schedule, the phenotype of these diseases evolves with age. The implication of the neurosurgeon varies depending on the patient's age and pathology. While neurosurgeons tend to see pediatric patients affected with neurofibromatosis type 1, tuberous sclerosis and Sturge-Weber syndrome, there will be a majority of adult patients with von Hippel-Lindau disease or neurofibromatosis type 2.

We report the case of a 61-year-old woman, who developed progressive paraparesia over a period of 8 months. Conventional X-rays of the thoracic spine showed an intra-spinal calcified lesion at T10. On CT-scan and MRI, the lesion appeared anterior to the cord, thus making a posterior approach hazardous. Total resection of this calcified meningioma was achieved through a right transthoracic transcorporeal approach, under close monitoring of the somatosensory evoked potentials. Despite a delayed pseudomeningocele formation requiring an additional thoracotomy, outcome after 7 years is excellent with no residual neurological deficit. No recurrence was seen on a CT-scan performed two years after the surgery. Calcified anterior meningiomas of the spine are rare lesions. Surgical outcome has been unfavorable for a long time in relation with posterior or postero-lateral approaches. Although anterior transthoracic procedures are routinely performed for extradural spinal lesions, this approach is rarely used for intradural lesions. A calcified anterior spinal thoracic meningioma should be managed like the more frequent calcified thoracic disk hernia, despite the increased risk of cerebrospinal fluid effusion requiring subsequent repair.

A retrospective study of 75 patients operated for pituitary prolactin-secreting adenomas between 1972 and 1992 is presented. 57 were women, 18 males. The major symptom was amenorrhea for women and impotence for men. Prolactinemia is correlated to the size of adenoma and thus permits a prediction of surgical results. Most of the patients with a prolactinemia under 300 ng/ml were cured by surgery alone. Surgical treatment alone at the-term follow-up cure 87% of the micro-adenomas, 17% of the enclosed adenomas, and none of the invasive adenomas. In this study there is only 7% of true recurrence. According to the high cure rate and low frequency recurrence after transphenoidal surgery for micro-adenomas we suggest this approach as the first choice treatment. On the other hand the best treatment for macro-prolactinomas is medicamentous.

Published cases of cervical dysraphic lesions are rare. Their estimated proportion is about 5% of the entire group of spinal dysraphism. Four cases are reported, representing 2 types of lesion: 2 meningoceles with a simple fibrous band fixing the posterior aspect of the cord to the skin and 2 meningomyelocystoceles with other associated anomalies (hydromyelia, hydrocephalus, Chiari II, Peter's ocular anomaly). The clinical presentation is that of a soft posterior cervical mass without marked neurological impairement. The surgical treatment is simple, consisting in the resection of the lesion, intradural exploration to untighten the cord if fixed by a fibrous band, and drainage of the hydrocephalus. Neurological outcome is generally good immediately but may need sometimes secondary surgical exploration.

The authors reports their experience of 5 cases of intra- and peri-aqueductal tumors. With the exception of 1 case, a subependymoma of the aqueduct discovered at autopsy in a 77 year old woman, the 4 other patients (2 females and 2 males) are relatively young (respectively 14, 23, 14 and 26) at the time when they presented with signs of chronically raised intracranial pressure due to a triventricular hydrocephalus. One patient presented with a partial Parinaud's sign, but the focal and long tract signs were conspicuously absent in the other patients. The diagnosis of a space occupying lesion in the tectum mesencephali or in the aqueduct could only be ascertained with the recent use of M.R.I. The radiological work-up of the cases suggest that theses lesions, presumably of glial origin, are very slowly growing tumors. Four patients have been treated for their symptomatic hydrocephalus, but no treatment of the tumor has been proposed, as the clinical state and the images remain remarkably stable. (Mean duration of follow up from the time of shunting = 3.7 years, extremes = 1.5-8 years). A review of the literature shows that not more than 48 cases of tumors of the aqueduct have been reported. Because of the small number of such observations, there are, until now, no precise informations on the management of such cases to decide if the patient will benefit of an open or stereotactic biopsy associated with radiotherapy or if one can rely on serial clinical and radiological examinations. Further information on the long term follow up is needed.

Closed injury with lesions of the great vessels of the neck are rare and usually due to high energy mechanisms with severe secondary deficit. 2 cases are reported, concerning young patients with relatively mild injury, neurological deficit not developing before 6 months after the traumatism in the first case and 8 months in the second. At this stage, the neurological signs were immediately severe, with cerebral infarction, leading to death in the first case. Pathological lesion of lesion of pseudo-anevrismal type, localised at the right carotid and subclavian artery bifurcation, was evidenced in the first case. In the second case, a bilateral intimal lesion of the carotid arteries at C1 level is illustrated on angiography. The mechanism of these lesions as well as the delayed manifestation of neurological deficits are discussed.

Four patients with rapidly progressive tetraparesis in relation with skin or joint infection and septicemia are reviewed. Clinical signs of medullary compression was present in all cases, confirmed by neuroradiological examinations. However, all surgical approaches failed to demonstrate clear evidence of compression. Within three weeks, the neurological picture of severe tetraparesis had an excellent clinical evolution in all cases. One of the patients died after developing pulmonary complications: necropsy did not show any signs of compression. The difficulty of differential diagnosis between an infectious compressive surgical pathology and an inflammatory disease (acute transverse myelitis type) is emphasized, with review of literature.

Between 1978 and 1984, the University Hospital of Geneva (Hôpital Cantonal Universitaire) received 46 head injured patients who "talked and died" after their brain insult. Only 14 of them had associated systemic lesions whilst two thirds of the series had an isolated head injury. Detailed review of the case records shows that death was preventable in a quarter of the cases. For 28 patients (60%), the factors contributing to death are avoidable or, at least, their management should be greatly improved. The diagnosis was confirmed by autopsy in 31 patients (67%).