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[Vigabatrin-associated bilateral simple optic nerve atrophy with visual field constriction. A case report and a survey of the literature].

CASE REPORT: A 70-year-old male with optic disc pallor and visual field constriction up to 35 degrees bilaterally was previously treated with vigabatrin. The cumulative dosage was 3.7 kg. The b-wave was reduced in photopic and scotopic electroretinography and the patient had delayed visual evoked potentials. The retinal nerve fiber thickness was pathologically reduced in the Heidelberg retinal tomography (HRT) and the retinal nerve fiber layer analyzer (GDx). CONCLUSION: Vigabatrin is an antiepileptic drug and may increase the intraretinal GABA level due to an inhibition of the enzyme GABA-transaminase and may induce an ascending simple optic nerve atrophy. Vigabatrin-associated visual field defects may be irreversible. A visual field control is recommended before starting the treatment with vigabatrin and at regular 6-month intervals thereafter. In cases of visual field constriction, the therapy should be stopped. If the cumulative dosage is more than 3 kg of vigabatrin, the visual field controls should be performed more frequently because of the dosage-toxicity relationship.

Aged↗

Supratentorial epidural hematoma of traumatic etiology in infants.

INTRODUCTION AND BACKGROUND: Traumatic epidural hematoma (EDH) represents a rare head injury complication in infants. Its diagnosis can be quite challenging because its clinical presentation is usually subtle and nonspecific. In our current communication, we present our data regarding the presentation of infants with EDH, their management, and their long-term outcome. MATERIALS AND METHODS: In a retrospective study, the hospital and outpatient clinic charts and imaging studies (head CT and skull X-rays) of 31 infants with pure, supratentorial EDH of traumatic origin were meticulously reviewed. Children Coma Scale score and Trauma Infant Neurologic Score (TINS) were also reviewed. The most common presenting symptom was irritability, which occurred in 18/31 (58.1%) of our patients. Pallor (in 30/31 patients) and cephalhematoma (in 21/31 patients) were the most commonly occurring clinical signs upon admission; both signs represent signs of significant clinical importance. Surgical evacuation via a craniotomy was required in 24/31 of our patients, while 7/31 patients were managed conservatively. The mortality rate in our series was 6.5% (2/31 patients), and our long-term morbidity rate was 3.2% (1/31 patients). CONCLUSIONS: EDH in infants represents a life-threatening complication of head injury, which requires early identification and prompt surgical or conservative management depending on the patient's clinical condition, size of EDH, and presence of midline structure shift on head CT scan. Mortality and long-term morbidity are low with early diagnosis and prompt treatment.

Accidental Falls↗

Recurrent gastric inflammatory myofibroblastic tumour in a 13-year-old male.

A 13-year-old boy who had epigastric pain and pallor for 2 months and found to have an ulcerative mass in the stomach and underwent partial gastrectomy. A diagnosis of inflammatory myofibroblastic tumour (IMT) of the stomach was made on histological examination. Three years later, recurrence in the stomach, with invasion into the pancreas and hilum of the spleen was noted and was managed by wide wedge resection of the stomach, distal pancreatectomy and splenectomy. The patient has been recurrence-free for the past 2 years. Gastric IMT is an uncommon tumour in children with unpredictable prognosis.

Adolescent↗

Relapsing polychondritis with features of dementia with Lewy bodies.

We describe a 72-year old man with clinical features suggestive of dementia with Lewy bodies (DLB) who proved neuropathologically to have degeneration induced by relapsing polychondritis (RP), an autoimmune inflammatory disorder of cartilaginous tissues. There was lymphocytic infiltration of the leptomeninges, perivascular cuffing, reactive astrocytosis, and activation of microglia in multiple brain areas all consistent with an immunologically mediated process. There was widespread neuronal loss within the hippocampus, entorhinal cortex, and amygdala as well as diffuse myelin pallor of cortical pathways. Elevated levels of complement proteins and endothelial markers of inflammation were observed, which are similar to previous reports in DLB. This study demonstrates that qualitatively similar inflammation-associated neurodegeneration is present in widespread regions of the brain in a RP case presenting clinically as DLB.

Aged↗

Tumor necrosis factor-alpha, microglia and astrocytes in AIDS dementia complex.

The pathogenesis of HIV-associated cognitive changes is poorly understood. Cytokines such as tumor necrosis factor-alpha (TNF-alpha) have been postulated to contribute to the mechanism of the neurological complications of HIV infection. One of the effects of TNF-alpha is to induce astrocyte proliferation in vitro. The purpose of this study was to look for a correlation between the expression of TNF-alpha, astrogliosis and the degree of cognitive impairment in 12 prospectively assessed AIDS cases without focal brain lesion, 8 of whom were demented. They were compared with 6 control patients without neurological disease. Neuropathological examination showed myelin pallor in 5 of the 8 demented patients. TNF-alpha expression was detected by immunohistochemistry in the midfrontal cortex, subcortical and deep white matter, and basal ganglia. Not only perivascular macrophages but also some microglial and endothelial cells were labeled. Most TNF-alpha-positive cells were in close contact with glial fibrillary acidic protein-positive astrocytes. They were more numerous than gp41-positive cells. Their density increased with increasing cognitive impairment and in parallel to the astrogliosis in the frontal cortex, basal ganglia and deep white matter. These findings further support the hypotheses that lesions of the deep white matter, driven by TNF-alpha, are associated with cognitive alteration, and that indirect effects of HIV infection in the brain participate in the development of HIV-associated dementia through a diffuse immune activation, mediated by cytokines.

AIDS Dementia Complex↗

On the occurrence of neuronal sprouting in the frontal cortex of a patient with Down's syndrome.

We report on the autopsy of a 52-year-old Down's syndrome patient with a 9-year history of progressive dementia. Histologically, there was a marked neuronal loss in the cerebral cortices with numerous neurofibrillary tangles and senile plaques and congophilic angiopathy. The second cortical layer was spongy in appearance and the frontal and temporal white matter showed marked myelin pallor. Immunohistochemistry for MAP2 of the frontal and temporal cortices revealed great reduction in the number of large pyramidal neurons. On the other hand, a much stronger MAP2 immunoreactivity than that seen in the controls was observed in the second layer, which consisted of many small pyramidal neurons with features of aberrant sprouting. They were recognized in the frontal cortices but not in the temporal cortices, and were not immunolabeled with phosphorylated-tau nor MAP5. On double immunolabeling with MAP2 and beta-amyloid antibodies, these neurons were found to be not directly associated with the formation of senile plaques. Ultrastructurally, MAP2 was immunolocalized in an amorphous granular form in the neuronal somata and processes, and paired helical filaments were not immunolabeled. The observation may indicate the occurrence of a remarkable plastic response of small pyramidal cortical neurons in this patient with Down's syndrome.

Amyloid beta-Peptides↗

Evidence for pathological involvement of the spinal cord in motor neuron disease-inclusion dementia.

Fronto-temporal dementia (FTD), characterised pathologically by ubiquitinated inclusions in the hippocampal dentate fascia and fronto-temporal cortex, may develop in association with motor neuron disease (MND). However, FTD with identical pathological hallmarks may occur in isolation and has been termed motor neuron disease-inclusion dementia (MND-ID). We studied the pathology of three cases of MND-ID including the spinal cord, which has not previously been examined in this condition. The ages of the patients at death were 53, 70 and 68 years and the onset of FTD 10, 15 and 9 years before death. Neuropathological findings in all cases included micro-vacuolation in cortical layer II and ubiquitinated intraneuronal inclusions in fronto-temporal cortex and hippocampal dentate fascia. One case showed unusual basophilic, ubiquitinated neuronal cytoplasmic inclusions in the brain stem. Qualitative assessment of the spinal cord was normal in two cases, while the third showed mild pallor of the lateral cortico-spinal tracts and ubiquitinated inclusions in motor neurons typical of MND. Morphometry did not reveal any significant loss or decrease in size of anterior horn motor neurons. The results of this study are consistent with the hypothesis that the pathological changes of pure MND and MND-ID form a spectrum and demonstrate that pathological involvement of the motor system may occur in MND-ID without clinical evidence of MND.

Aged↗

Acute promyelocytic leukemia: an unusual cause of fatal secondary postpartum hemorrhage.

INTRODUCTION: Postpartum haemorrhage can rarely be associated with an underlying coagulation or haematological disorder. We wish to discuss a case of acute promyelocytic leukemia (APL) presenting as secondary postpartum hemorrhage (PPH), its clinical and pathological features and maternal outcome. CASE REPORT: We describe a 28-year-old woman who presented with secondary PPH accompanied by bleeding from gums, marked pallor, hematemesis, ecchymotic and purpuric spots all over the body, 8 days post-partum. Investigations revealed her to be having APL, a diagnosis not suspected by the referring clinic. She was given supportive therapy but died before chemotherapy could be started. CONCLUSION: The case emphasizes the importance of suspecting, investigating and energetically treating uncommon causes such as acute leukemia when an unusually severe clinical picture in a postpartum setting suggests such a possibility. This may prove to be life saving, particularly if the leukemia happens to be APL, a cancer with a very high cure rate.

Adult↗

Intraorbital aneurysm of the ophthalmic artery: a rare cause of apex orbitae compression syndrome.

PURPOSE: The purpose of this study was to report the case of a patient with a saccular, intraorbital aneurysm of the ophthalmic artery and to analyze the correlation between clinical symptoms and aneurysm localization with regard to the literature. METHOD: We correlated the patient's clinical findings with anatomical substrates on magnetic resonance imaging and angiographic studies. RESULTS: A 64-year-old woman presented with a rapidly progressive loss of visual acuity in her right eye, temporo-basal visual field defects, a temporal pallor of the optic disc and third and sixth nerve palsies. This apex orbitae compression syndrome was due to an aneurysm of the proximal intraorbital segment of the ophthalmic artery at a position inferolateral to the optic nerve, inferior to the third and medial to the sixth cranial nerve. CONCLUSION: The symptoms caused by an aneurysm of the ophthalmic artery depend on its localization and spatial relationship to neural structures. While aneurysms of the intracranial and distal intraorbital segments may remain asymptomatic, those arising from the intracanalicular segment become clinically apparent with optic nerve conduction disorders. Aneurysms in the proximal intraorbital segment additionally provoke oculomotor disturbances due to compression of the third and sixth cranial nerves.

Abducens Nerve Diseases↗

Traumatic dislocation of the globe into the maxillary sinus associated with extraocular muscle injury.

BACKGROUND: The mechanism of complete dislocation of an intact globe into the maxillary sinus after an extensive blowout fracture has not been clearly documented. METHODS: A 68-year-old man sustained orbital wall fractures of the right orbit, resulting in dislocation of the globe into the maxillary sinus, associated with the transection of the medial and inferior rectus (MR and IR). We repaired the orbital wall fractures using Medpor barrier sheets, and repositioned the dislocated globe. And then, the distal section of the IR was sutured at its proximal end and the severed distal section of the MR was sutured at the fascial sheath and Tenon's capsule. RESULTS: After repositioning, the eyeball was intact without signs of perforation, but the patient's visual acuity was impaired, exhibiting a loss of light perception, coupled with a noted pallor of the optic disc. The patient's eye movement was severely restricted, but supraduction and abduction proved possible. CONCLUSIONS: This case demonstrates that the globe can be dislocated into the maxillary sinus following orbital wall fracture associated with extraocular muscle injury, and provides a clue into the mechanism underlying dislocation of the globe into the maxillary sinus.

Aged↗

Orbital cavernous hemangioma with bone erosion.

PURPOSE: To report a rare computed tomography (CT) feature in one case of orbital cavernous hemangioma (OCH). METHODS: Case report. The clinical features, CT findings, and pathological examination are presented. RESULTS: A 43-year-old Chinese man developed slowly progressive proptosis and decreased vision in his left eye over 13 years. The best-corrected visual acuity was 20/400 OS. Fundus examination showed moderate disc pallor in the left eye. CT scan revealed a 3.7 x 3.5-cm homogeneous soft tissue mass occupying nearly the whole retrobulbar space. There was focal bone erosion of both the deep lateral orbital wall and deep superior wall. At surgery, a 3.5 x 3.0 x 3.3-cm purplish, well-defined, round mass was removed intact without complication. The histopathologic examination proved it to be OCH. One year later, the visual acuity recovered to 20/15. CONCLUSION: Patients with OCH may show bone erosion on CT scan, so the presence of bone defect on CT scan should consider the possibility of OCH.

Adult↗

Unilateral retinitis pigmentosa with amblyopia in the fellow eye.

PURPOSE: The purpose was to report a case of unilateral retinitis pigmentosa with amblyopia in the other eye. METHODS: Eight years ago, a 36-year-old woman complained of peripheral visual field loss in her left eye when she covered her right eye. Complete ophthalmological examinations including fundus photography and fluorescein angiography, full-field electroretinography, dark adaptation, and microperimetry were performed. RESULTS: Best-corrected visual acuity of the patient was 0.2 with +2.5 diopters in her right eye and 0.3 with +1.5 diopters in her left eye. Fundus examination did not reveal any abnormalities in the right eye, but narrow retinal vessels, optic disc pallor, and peripheral retinal pigment clumping was found in the left eye. The full-field electroretinography was normal in the right eye, but rod response, cone response, and combined response were non-recordable, and 30-Hz response was very small in the left eye. Dark adaptation thresholds were normal in the right eye, but were dramatically elevated in the left eye. Microperimetry was normal in the right eye, but the visual field was reduced to a 2x5 degrees central field in the left eye. CONCLUSION: Unilateral retinitis pigmentosa with amblyopia in the other eye is a rare condition. The patient presented here had a case of unilateral retinitis pigmentosa with the other eye with ametropic amblyopia. It is necessary to perform functional and morphological ophthalmological examinations to confirm the diagnosis.

Adult↗

Nonarteritic anterior ischemic optic neuropathy and 'visual field defects' following vitrectomy: could they be related?

BACKGROUND: Visual field defects after uncomplicated vitrectomy have been reported but poorly explained. We describe two cases of nonarteritic anterior ischemic optic neuropathy (NAION) observed following vitrectomy. We also reviewed the literature for cases of post-vitrectomy visual field defects for evidence of optic nerve damage. METHODS: Two patients developed optic disc edema and features of an optic neuropathy after uncomplicated vitrectomy for macular hole and epiretinal membrane. A systematic literature search was conducted to obtain prior reports of visual field defects or ischemic optic neuropathy following vitrectomy. Additional studies were identified from the bibliographies of the retrieved articles. RESULTS: The incidence of visual field defects following vitrectomy has varied from 1-71% across all studies. Overall, we found 160 (14.5%) cases of unexplained visual field defects following vitrectomy out of 1,104 patients. Of these, 31 eyes (19.4%) have shown some sign of optic nerve damage following vitrectomy, including pallor in 29 eyes, relative afferent pupillary defect in eight eyes, and intrapapillary hemorrhage in two eyes. CONCLUSIONS: NAION may develop following vitrectomy. "Visual field defects" following vitrectomy are common and many of the involved eyes demonstrate evidence of optic nerve damage, some of which may have represented NAION.

Aged↗

The sensitivity and specificity of direct ophthalmoscopic optic disc assessment in screening for glaucoma: a multivariate analysis.

BACKGROUND: Previous studies have shown that the cup:disc (C/D) ratio has limited sensitivity and specificity. Improved sensitivity and specificity has been found with combinations of disc parameters using stereophotography or disc imaging, but the extent to which these studies reflect what can be achieved by direct assessment is unclear. The purpose of this paper is to report the sensitivities and specificities of a range of disc parameters, both in isolation and in combination, as graded during clinical examination with direct ophthalmoscopy. METHODS: Sixty-seven patients with newly diagnosed primary open angle glaucoma and 145 non-glaucomatous subjects were examined by direct ophthalmoscopy. The following features of the optic disc were graded: vertical and horizontal C/D ratios (uncorrected for disc size), narrowest rim width, presence/absence of disc haemorrhage, focal pallor of the neuroretinal rim, parapapillary atrophy, steepness of the cup-edge and presence/absence of baring of the lamina cribrosa. Subjects were validated as glaucomatous/non-glaucomatous on the basis of visual fields, independently of the results of optic disc gradings. Multiple logistic regression modelling was used to evaluate the effectiveness of combinations of disc parameters. RESULTS: Sensitivities and specificities are limited for all features when considered in isolation. The 'cupping' parameters have the highest sensitivities and specificities but no single cut-off criterion for these parameters has both high sensitivity and specificity. Multiple logistic regression modelling indicated that two disc parameters in combination, narrowest rim width and parapapillary atrophy, were independently associated with glaucoma and achieved best prediction. Combining information from these parameters achieved a sensitivity of 81% (95% CI = 69-89%) and a specificity of 90% (95% CI = 84-95%), a level of discrimination that is not significantly better than narrowest rim width alone in terms of area under the receiver operator characteristic (ROC) curve. CONCLUSION: Disc assessment during clinical examination with direct ophthalmoscopy can achieve comparable sensitivities and specificities with those previously reported for stereophotographic assessment or visual fields screening. However, since the diagnostic accuracy of disc assessment in isolation is inadequate for screening, a combined test strategy is necessary.

Adult↗

Aqueous flare in retinitis pigmentosa.

BACKGROUND: The purpose of this study was to quantify blood-ocular barrier impairment by measuring aqueous flare in retinitis pigmentosa (RP) and to search for clinical correlations. METHODS: Forty-nine patients (94 eyes) with RP and 85 normal controls were examined. Aqueous flare was quantified with the noninvasive laser flare-cell meter (FC-1000, Kowa, Japan). Degrees of cystoid macular edema (CME), vitreous pigment dusting (VPD), intraretinal migration of retinal pigment epithelium, and waxy pallor of the optic nerve head were determined semiquantitatively by biomicroscopy. Data were analyzed using the t-test the Mann-Whitney U-test, the chi-squared test and regression analysis by taking into account the dependency of data from two eyes of the same patients. RESULTS: Aqueous flare (photon counts/ms) was significantly higher in RP (mean 10.11 +/- 3.53) than in normals (3.89 +/- 0.94; P < 0.001). Clinically significant CME was present in 26% of eyes with RP, being significantly more frequent in autosomal dominant RP (11 of 16 eyes, 69%) than in other variants (17%; P < 0.005). Multivariate analysis revealed that CME was most strongly associated with flare values (r = 0.84), P < 0.01), whereas--after adjusting for CME--correlations between aqueous flare and other clinical findings did not reach significance. CONCLUSION: RP eyes show increased aqueous flare values, indicating impairment of blood-occur barriers. This appears to be associated with CME and with autosomal dominant RP.

Adolescent↗

Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma.

BACKGROUND: in Leber's hereditary optic neuropathy, increased optic nerve cupping has been reported by several authors. Recently, a mitochondrial DNA (mtDNA) mutation at nucleotide 11778 typically associated with Leber's hereditary optic neuropathy (LHON) was identified in a patient treated for glaucoma but lacking typical signs of LHON. The question arises: should all normal-tension glaucoma patients be further evaluated for LHON? METHODS: we screened 54 unselected patients with normal-tension glaucoma (age range 20-96 years, 16 men and 38 women) for the primary mtDNA LHON mutations at nucleotides 3460, 11778 and 14484. RESULTS: none of the patients harboured the mtDNA mutations at nucleotides 3460, 11778 or 14484 (95% confidence intervals for each mutation ranged from 0% to 5.3%). CONCLUSIONS: primary LHON mtDNA mutations are rare or absent in unselected normal-tension glaucoma patients. Therefore, unselected normal-tension glaucoma patients should not be screened for these mutations. It is probable that only normal-tension glaucoma patients with atypical features (rapid progression, early deep central scotoma, pallor of neuroretinal rim, elevated disc, peripapillary teleangiectasia) or a positive family history of visual loss compatible with a matrilinear transmission should be further evaluated.

Adult↗

Effects of cosmonaut vestibular training on vestibular function prior to spaceflight.

The purpose of this study was to quantify the effects of repetitive Coriolis and cross-coupled stimulations, similar to the vestibular training the cosmonauts are exposed to prior to their spaceflight. on vestibular function in control subjects on Earth. Ten volunteers were passively rotated in yaw on a rotating chair while executing standardized pitch head-and-trunk movements. The chair stopped to change direction after 12 head-and-trunk movements were made. The runs were grouped in sessions of ten,which were repeated daily for 10 days. The severity of motion sickness was assessed by subjective judgment and measurements of skin pallor and salivary total protein concentration, and nystagmus was recorded. The severity of motion sickness and nystagmus decreased during cosmonaut vestibular training (CVT). One month after the end of CVT, nystagmus responses were still about 20-30% lower than control values. These results indicate that CVT induces a habituation of vestibular responses. One important implication of this experiment concerns space studies on cosmonauts who are exposed to such vestibular training prior to their spaceflight.

Adult↗

Aquatic leech infestation: a rare cause of severe anaemia in an adolescent Tanzanian girl.

UNLABELLED: We report on a 15-year-old girl who presented with a history of chest pain, coughing, intermittent haemoptysis, fever, pallor and vomiting to a rural hospital in Tanzania. She was severely anaemic with signs of cardiorespiratory distress. Haemoglobin was 4.8 g/dl; the chest X-ray film was normal. She required one unit of blood. After 3 days, she vomited up a small parasite which proved to be an aquatic leech. Oesophagogastroscopy, then performed, revealed four small mucosal lesions in the pharynx and upper oesophagus. No other leeches were seen. Further oesophagogastroscopy 4 days later showed a normal mucosa. The girl was discharged on iron and folic acid supplements. A small lake near her village was identified as the likely source of her infestation. The family had used the water for drinking without any precautions-Terrestrial leeches can cause profound, life-threatening anaemia, but even more so do aquatic leeches. This type is acquired while bathing or drinking unfiltered water. They attach themselves to mucous membranes, having been described in sites like conjunctiva, nose, pharynx/larynx, trachea/bronchi, oesophagus, vagina, and rectum. Especially in the airways, they can cause even fatal bleeding or obstruction. Treatment consists of removal of the leech. CONCLUSION: In developing countries, even unusual causes like leech infestation have to be considered in the differential diagnosis of severe anaemia in children.

Adolescent↗