Anti-endothelial serum antibodies in a patient with Susac's syndrome.

BACKGROUND: Susac's syndrome (SS) is a rare arteriopathy affecting the microvasculature of the brain, retina, and inner ear, resulting in encephalopathy, branch retinal artery occlusion and hearing loss. Anecdotal reports exist on SS being associated with a humoral immune response against endothelial cells. However, no original data has ever been published. OBJECTIVE: To analyze serum and CSF from a patient with SS for the presence of CNS auto-antibodies and, if present, to further characterize such antibodies immunologically. METHODS: Serum and CSF samples were examined by indirect immunofluorescence on adult mouse cerebrum, cerebellum, brain stem, and inner ear tissue sections, and IgG subclasses were determined. RESULTS: Anti-endothelial antibodies were found at a titre of 1:960 in serum but not CSF. Antibodies belonged to the complement activating IgG1 subclass. Glucocorticoid treatment resulted in a decrease of titres (1:480), though the antibodies remained clearly detectable. CONCLUSION: Our finding of anti-endothelial cell antibodies in a patient with SS is important in the light of previous pathological data suggesting that SS is associated with endothelial damage. Larger serological studies are now warranted to assess systematically the frequency and relevance of auto-antibodies in SS.

Prompt contrast enhancement of cerebrospinal fluid space in the fundus of the internal auditory canal: observations in patients with meningeal diseases on 3D-FLAIR images at 3 Tesla.

We speculated that meningeal pathologies might facilitate the permeability of cranial nerves at the fundus of the internal auditory canal (IAC), causing prompt enhancement after administration of Gd-DTPA. Using a 3D- fluid-attenuated inversion recovery (FLAIR) sequence, we evaluated the enhancement of the cerebrospinal fluid (CSF) space in the IAC fundus 10 min after Gd-DTPA administration in patients with meningeal diseases. Twenty patients (aged 22 to 79 years) were divided into 2 groups, a group with meningeal disease comprising 9 patients with meningeal abnormalities (6, tumor dissemination; 3, infection) and a control group of 11 patients with unilateral IAC pathology whose healthy sides were included as controls. Six of the 9 patients in the group with meningeal disease showed bilateral enhancement; one showed unilateral enhancement. None of the control group showed enhancement in the healthy side. One patient with Ramsay-Hunt syndrome showed only ipsilateral enhancement. Enhancement in the IAC fundus was frequently observed in patients with meningeal disease, even just 10 min after administration of contrast agent. This enhancement in the IAC fundus was never visible on T1-weighted 3D-FLASH images.

[Mondini dysplasia: recurrent bacterial meningitis in adolescence]. / Displasia de Mondini: meningitis bacteriana recurrente en la adolescencia.

INTRODUCTION: Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. CASE REPORT: We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed. CONCLUSIONS: Mondini dysplasia with CSF fistula must be included as a possible diagnosis when faced with a patient with recurrent bacterial meningoencephalitis. Imaging studies, especially magnetic resonance, enable the clinician to check the diagnosis and the CSF fistula can be closed with ear surgery.

Displasia de Mondini: meningitis bacteriana recurrente en la adolescencia / Mondini dysplasia: recurrent bacterial meningitis in adolescence

Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. CASE . We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed...(AU)

[The Susac syndrome--a retinocochleocerebral angiopathy]. / Das Susac-Syndrom--eine retinokochleozerebrale Angiopathie. Ein Beitrag zur Differenzialdiagnose der Multiplen Sklerose.

INTRODUCTION: There has been a series of case reports of otherwise healthy patients suffering from microangiopathy of the brain, retina and cochlea. Most patients were young women presenting clinically with a subacute encephalopathy, branch retina artery occlusions, and hearing loss. In 1994 the name "Susac syndrome" has been proposed for this disease entity. METHOD: Case report and review of 64 published cases, identified through MEDLINE are given. CASE REPORT: We describe a 32-year-old otherwise healthy woman presenting with a subacute encephalopathy, multiple branch retinal artery occlusions and bilateral hearing loss. MRI of the brain revealed multiple small white and grey matter lesions without contrast enhancement. CSF protein was elevated, oligoclonal bands were negative. Immunological laboratory parameters, microbiology, virology, coagulation studies, SEP, AEP, VEP and cerebral DSA were normal. REVIEW OF THE LITERATURE: Of 64 identified patients 58 were women. The mean age of the patients was 30 years. 60 patients (94%) had arterial occlusions, which were bilateral in 39%. 48 patients reported hearing loss, 37 patients (58%) had a global encephalopathy, but other neurologic manifestations were common. CONCLUSION: This rare syndrome has a strong young female preponderance. MRI of the brain often shows lesions suggestive of multiple sclerosis. Fluorescein angiography may show arteriolar wall hyperfluorescence. Patients can be identified at an early stage with a careful history and physical examination. Early treatment with corticosteroids is often associated with a good prognosis. Cyclophosphamide and antiplatelet drugs may be added in complicated cases.

Perilymph detection by beta 2-transferrin immunoblotting assay. Application to the diagnosis of perilymphatic fistulae.

beta 2-Transferrin, the asialotransferrin, is found in cerebrospinal fluid (CSF) and inner ear perilymph, but is absent from serum and other body fluids or secretions except the aqueous humor. The detection of this asialo-fraction of the transferrin in ear fluid microsamples with an immunoblotting technique is of great interest when a perilymphatic fistula (PLF) is suspected. beta 2-Transferrin was detected on microsamples collected by syringe or on micro-collagen sponges from 30 patients undergoing ear surgery. The problem is reviewed, the technique and sample preparation are explained and the results discussed. beta 2-Transferrin detection in the ear fluid allows the identification of perilymph, except in the CSF oto- or rhinorrheal context, and is proposed as a promising test to confirm perilymphatic fistula.

Protein profile of human perilymph: in search of markers for the diagnosis of perilymph fistula and other inner ear disease.

Recent developments in high-resolution two-dimensional polyacrylamide gel electrophoresis, combined with amino acid sequencing and computer-assisted image analysis, have allowed separation of approximately 100 proteins and identification and quantitation of some 30 proteins in human perilymph. The majority of proteins were found to be present in perilymph at levels in basic agreement with the total protein gradient between perilymph and plasma (1:35). However, several striking differences were observed: (1) beta 2-transferrin, known to be absent from normal plasma but present in cerebrospinal fluid, was detected in perilymph at a concentration roughly equal to that in cerebrospinal fluid; and (2) two high-density lipoprotein-associated apolipoproteins--apo D (formerly PLS:33) and apo J or NA1 and NA2 (formerly PSL:29/30), the latter showing identity with SP40/40, or cytolysis inhibitor--were found to be present at concentrations 1 to 2 orders of magnitude higher when examined in terms of total protein and to be comparable with or higher than plasma levels when examined in terms of absolute concentrations. The functional significance of the extremely high levels of the two apolipoproteins is not known at this time. An attempt was made to use beta 2-transferrin, as well as apo D and apo J (NA1/NA2), as markers for the diagnosis of perilymph fistula, one of the most controversial and challenging problems for the otologist today. It was determined that the technique is indeed applicable when relatively pure fistula samples are analyzed. Limitations and potential improvements of the technique are discussed. In addition, the potential usefulness of two-dimensional polyacrylamide gel electrophoresis in other pathologic conditions of the inner ear is discussed briefly.

Perilymph fistula: concept, diagnosis and management.

Perilymph fistula is caused by changes of cerebrospinal fluid pressure and/or middle ear pressure. For diagnosis, history taking is extremely important in regard to whether the occurrence of symptoms is related to physical exertion, such as straining, nose blowing, sneezing etc. A variety of symptoms are due to pathologic changes of the membranous labyrinth. Exploratory tympanotomy is needed to verify the occurrence of leakage. However, perilymph fistula cannot be excluded, even if leakage is not observed. Management consists of absolute rest and closure of the fistula. If dizziness or vertigo is intractable and long-lasting, destruction of vestibular function should be considered.

[Congenital cysts of the oval window (author's transl)]. / Kongenitale Zyste im ovalen Fenster.

A 3 year old child with recurrent pneumococcal meningitis and a congenital cyst of the oval window is presented. An aqueous middle ear effusion was found and scintigraphy demonstrated a middle ear CSF leak. Surgical exploration revealed a cyst originating from the stapes footplate. The origin of this malformation is discussed and its possible presence in recurrent mengitis is stressed.