Endovascular treatment of idiopathic intracranial hypertension: retrospective analysis of immediate and long-term results in 51 patients.

PURPOSE: Idiopathic intracranial hypertension (IIH) is a disorder of increased intracranial pressure in the absence of any known causative factor. Sinus stenosis is common in these patients. Stenting of stenotic dural sinuses has gained popularity as a treatment option, since these stenoses may contribute to an obstruction of the venous return, and, thereby may contribute to IIH via an increase in venous sinus pressure. We evaluated the safety and efficacy of endovascular treatment in IIH with venous sinus stenosis. METHODS: Fifty-one patients with IIH underwent stenting. Median age was 40 years. Clinical manifestation was headache in 74.5% of the patients and visual obscurations in 78.5%. Papilledema was present in 50/51 patients (98%), and lumbar puncture documented elevated CSF opening pressure in all but one patient (98%). Sinus stenoses were observed in all patients. RESULTS: Endovascular treatment was successfully performed in all patients. There were no major complications encountered (i.e., live threatening or causing a deterioration of a patient's condition equivalent to mRS 3-6). Improvement or resolution of papilledema was observed in 88% of the patients, and 84% reported improvement or resolution of the headache. Follow-up angiographies were performed in 48 patients at a median interval of 49 months and demonstrated in stent-stenosis or a de novo stenosis in 12 patients, eight of them needed re-treatment. CONCLUSION: Venous sinus stenting is a safe and effective alternative to other invasive treatments (e.g., optic nerve sheath fenestration, CSF diversion) in patients with IIH. The majority of patients have a persistent clinical benefit.

Associations between thrombophilic risk factors and determinants of atherosclerosis and inflammation in patients with non-arteritic anterior ischaemic optic neuropathy.

UNLABELLED: Non-arteritic anterior ischaemic optic neuropathy (NAION) is caused by ischaemia of the optic nerve head. The pathophysiology of NAION is unclear, and no proven effective treatment exists. PATIENTS, METHODS: We analyzed thrombophilic risk factors and determinants of atherosclerosis and inflammation in 109 consecutive patients and 109 age- and sex-matched volunteers using a case-control design. RESULTS: High levels of fibrinogen (>384 mg/dl; OR 3.2, p = 0.003), factors VIII:C (>183%; OR 2.6, p = 0.02), IX (>153%; OR 2.6, p = 0.026), XI (>142%; OR 3.4, p = 0.006), von Willebrand factor (activity >205%; OR 3.1, p = 0.005; antigen >194%; OR 3.5, p = 0.002), and triglycerides (>228 mg/dl; OR 2.8, p = 0.026), higher platelet counts (>294,000/µl; OR 2.5, p = 0.04), low levels of HDL cholesterol (<40 mg/dl; OR 2.7, p = 0.032), and an accelerated erythrocyte sedimentation rate (>20 mm/h; OR 4.4, p = 0.003) were associated with NAION. CONCLUSION: Our findings support the contention of a complex pathogenesis of NAION resulting from the coincidence of proatherogenic, prothrombotic and proinflammatory processes. The alterations described could be causative, side effects, or just coincidental findings.

[Ophthalmological symptoms of idiopathic intracranial hypertension: Importance for diagnosis and clinical course]. / Ophthalmologische Symptome bei Pseudotumor cerebri : Bedeutung für Diagnosestellung und Verlaufsbeobachtung.

BACKGROUND: Ophthalmological symptoms, particularly papilledema and transient visual obscuration as well as pulsatile head and ear noises are hallmarks of idiopathic intracranial hypertension also known as pseudotumor cerebri. DIAGNOSTICS AND COURSE: Pronounced asymmetrical and unilateral papilledema are common occurrences in patients with idiopathic intracranial hypertension. Distension of the optic nerve sheath indicates increased intracranial pressure, which need to be confirmed by lumbar puncture. The presence of papilledema indicates increased intracranial pressure but its absence does not exceed it. Previous and long-standing papilledema obviously induces changes of the optic disc which prevent the further development of major disc swelling. The development of visual atrophy can mimic a regression of papilledema. In cases of marked papilledema visual loss may be caused by nonarteritic, ischemic optic neuropathy or macular edema. Visual obscuration is present in the vast majority of cases of pronounced chronic papilledema and is an indication of long-standing increased intracranial pressure. Most patients with pseudotumor cerebri and papilledema show only mild visual field defects, such as an enlarged blind spot and/or relatively mild arcuate defects, which regress after reduction of the intracranial pressure. Some patients, however, experience a relatively rapid progression of substantial visual field defects and optic atrophy requiring immediate and effective medicinal treatment. CONCLUSION: Ophthalmological symptoms are frequently key criteria for idiopathic intracranial hypertension. More attention should be paid to these signs and the diagnostic approach should be multidisciplinary.

[Ocular pain. Case example from the neuroophthalmological practice]. / Augenschmerzen. Fallbeispiele aus der neuroophthalmologischen Praxis.

This article presents neuroophthalmological conditions that may typically cause ocular pain. Particular attention is paid to the description of two cases of headache and facial pain where after a long diagnostic history the correct reason for the pain was only discovered via subtle diagnostic findings. This is exceptionally important as primary headaches are a main reason for ocular pain on the one hand but on the other hand they do not show unambiguous findings, therefore a definite exclusion of primary sources causing the pain is required before making this diagnosis.

[Anterior ischemic optic neuropathy: Etiology, pathogenetic mechanisms and therapy]. / Anteriore ischämische Optikusneuropathie : Atiologie, Pathogenese und Therapie.

Ischemic optic neuropathy is caused by ischemia of the optic nerve head in the region of the lamina cribrosa. Differentiation is made between arteritic (AION) and nonarteritic (NAION) forms. AION is the most common ophthalmological manifestation of giant cell arteritis and is usually well controlled with systemic steroid therapy. Temporal artery biopsy for confirmation of the diagnosis is mandatory. NAION is not a disease entity but rather the common pathogenetic pathway of a large variety of diseases and conditions and is often the result of several interacting factors. For this reason, there is no "standard therapy" for NAION. Careful interdisciplinary work up in NAION frequently reveals previously unrecognized diseases requiring treatment according to internal medicine standards. Adequate treatment frequently results in improvement of the affected eye and reduced risk of NAION in the other eye or of brain infarction.

Etiology and pathogenetic mechanisms of optic disc swelling with visual loss. An interdisciplinary prospective pilot study of 102 cases.

A nonrandomized, prospective, interdisciplinary pilot study of 102 patients with noncompressive optic disc swelling with visual loss (ODSWVL) was performed in order to investigate etiologic and pathogenetic mechanisms. Forty-six patients suffered from underlying inflammatory disease. Seventeen patients suffered from highly probable cardiogenic embolization, 16 patients from multiple vascular risk factors. The remaining patients of the noninflammatory disease group suffered from leukemia, previously unknown or severely decompensated diabetes mellitus, acute arterial hypertension, different kinds of coagulopathies and others. Ninety-six of the 102 patients required medical treatment according to general medical standards. Inhomogeneity of the underlying disease processes explains the ineffectiveness of different monotherapies in previous studies. Interdisciplinary search for the underlying causes allows causative treatment. ODSWVL and anterior ischemic optic neuropathy in particular seem to be a common final pathway of various pathogenetic mechanisms due to different etiologies rather than a disease entity by itself.

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

We describe a mutation in the FGFR2 gene in affected members of a large family with inherited autosomal dominant craniosynostosis. The mutation is a G1044A transition at codon 344 of exon B of the gene and results in abnormal splicing of the FGFR2 transcript. The phenotypic effect of the mutation varies greatly. It ranges from minor anomalies such as slight hypertelorism and maxillary hypoplasia to severe manifestations such as brachycephaly and dolichocephaly. The severe cases required surgery because of increased intracranial pressure. The patients cannot be assigned clinically to one of the known craniosynostotic syndromes with mutations in FGFR2, e.g., Crouzon, Pfeiffer, or Jackson-Weiss. This study demonstrates that FGFR2 mutations can result in a spectrum of craniofacial abnormalities even within one family. The known eponymic syndromes of Crouzon, Pfeiffer, or Jackson-Weiss only describe phenotypic extremes of this spectrum. Therefore, the clinical classification should be abandoned and replaced by a molecular one such as "FGFR-associated craniosynostosis syndromes."

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.

The merosin M-chain (or laminin-alpha 2) is one of three subunits of laminin-2 which is highly expressed in striated muscle and peripheral nerve. Complete lack of laminin-alpha 2 expression in skeletal muscle is the hallmark of one form of congenital muscular dystrophy which is characterized by dysmyelination of the central nervous system (CNS), links to chromosome 6q2 and is common among Caucasians. Laminin-alpha 2 expression was also found to be significantly reduced in Fukuyama congenital muscular dystrophy which links to chromosome 9q3. We report consistently preserved laminin-2 expression, including laminin-alpha 2, as detected by immunofluorescence in skeletal muscle from five patients with Walker-Warburg syndrome which is characterized by congenital muscular dystrophy and, in addition, type II lissencephaly or pachygyria, defective CNS myelination, and ocular dysgenesis. These findings show that in spite of partial phenotypic overlap between Fukuyama CMD and Walker-Warburg syndrome the two disorders are nosologically separate disease entities. They also exclude that Walker-Warburg syndrome is allelic to the common form of congenital muscular dystrophy with laminin-alpha 2 deficiency.

[Neuropathies of the optic nerve in inflammatory systemic diseases and vasculitis. A frequently misdiagnosed early symptom]. / Neuropathien des Sehnerven bei entzündlichen Systemerkrankungen und Vaskulitiden. Ein häufig verkanntes Frühsymptom.

Optic neuropathy, also described as "autoimmune optic neuropathy", cna be treated successfully. It can be isolated, an early sign of or associated with systemic inflammatory disease and vasculitis. Recognition of this entity appears important since the natural course of the disease tends to end up with severe visual loss and optic atrophy. Early systemic high-dose steroid treatment and immunosuppression usually restore and maintain visual function. The clinical spectrum of this disease entity is described on the basis of the literature and our own cases, some of which have been followed up for several years. The differential diagnostic and therapeutic aspects are discussed. Association of this ill-known optic neuropathy with various inflammatory diseases is described; a rich reference list indicates its existence.

Pterional approach to the contralateral orbit.

Of a total of 80 operated intraorbital lesions, 2 were located in the posterior intraconal space, medial and inferior to the optic nerve. Because they were unfavorably located for standard surgical approaches, we operated via a contralateral pterional transsphenoidal-transethmoidal route. This technique provided excellent exposure and results in these two cases of intraorbital cavernous malformations. A brief description of the approach is presented.

Cerebral complications in acute posterior multifocal placoid pigment epitheliopathy.

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a self-limited ocular disease with a favorable visual outcome. Regarding its pathogenesis, there is increasing evidence of a vascular disorder of the precapillary choroidal arterioles that causes ischemic edema of the overlying retinal pigment epithelium. Systemic and neurological abnormalities associated with APMPPE have been documented. The development of severe cerebral vasculitis simultaneously or after a period of months or even years has been described in only a few cases. We present two new well-documented cases that developed several months after manifestation of the characteristic findings of APMPPE. A thorough medical and neurological workup is recommended, as is careful information of the patients and their families about the signs and symptoms of potential associated cerebral complications so as to facilitate early and adequate treatment.

[Orbital decompression by pterional approach in dysthyroid orbitopathies]. / La décompression de l'orbite par voie ptérionale dans les orbitopathies dysthyroïdiennes.

The etiology of the endocrine orbitopathy is still unknown and thereby their treatment remains symptomatic. The surgical decompression is achieved in resecting lateral wall, roof and partly bottom of the orbit. We treated 23 eyes in 14 patients and in only one patient the decompression obtained with this method was insufficient. This patient underwent additionally transantral transethmoidal decompression. One patient had a complete loss of vision after surgery probably due to direct lesion of the optic nerve. The decompression of the orbit is indicated in fast progressive endocrine orbitopathies with impairment of the visual function.

[Postmortem endoscopic diagnosis]. / Postmortale endoskopische Diagnostik.

The use of endoscopical methods augments the macroscopical diagnosis in autopsies. Cavities and sinuses which are hardly accessible may be inspected and photographically documented as well without damage of the anatomical context. In terms of forensic autopsies the endoscopical technique is mostly recommended for the inspection of the fundus of the eye, the external auditory meatus up to the tympanic membrane, the naso- and laryngopharynx. Pathological and traumatical changes can be valued at once in situ. Forensic evidence of postmortal endoscopical findings is exemplified.

[Initial manifestation of sarcoidosis as a palpebral and para-bulbar tumor]. / Erstmanifestation einer Sarkoidose als palpebraler bzw. parabulbärer Tumor.

Tumors of the lids, the lacrimal gland and the orbit can be early manifestations of sarcoidosis. A timely diagnosis based on biopsy of periocular tissues and cinico-radiographic evaluation at an early stage of the disease may prevent irreversible lesions of the parenchymatous organs. The clinical and histological signs in two patients, one with palpebral and one with parabulbar sarcoidosis, are described and the differential diagnosis and therapeutic aspects are discussed.

Extended pterional decompression of the orbit: an alternative treatment in endocrine orbitopathy.

Extended pterional decompression was performed in seven orbits. The indication was optic neuropathy in six orbits and corneal ulceration in one. As compared to ethmoidectomy, advantages of the pterional approach seem to be the preservation of the motility of the eye and the lack of paranasal sinus complications. We consider the pterional approach to be appropriate for decompression of endocrine orbitopathies that do not respond to conservative measures.

Graves' ophthalmopathy evaluated by infrared eye-movement recordings.

Thirteen patients with varying degrees of Graves' ophthalmopathy were examined using high-resolution infrared oculography to determine peak velocities for horizontal eye movements between 3 degrees and 30 degrees. As severity of the orbital disease increased, peak velocities became substantially lower. Vertical-muscle surgery failed to have any effect on peak velocity of horizontal eye movements. In contrast, orbital decompression caused notable improvement in peak velocity of eye movements. Eye-movement recordings, which provide a measure of extraocular muscle function rather than structure, may provide a safe, sensitive, and accurate method for classifying and following up patients with Graves' ophthalmopathy.