Significance of tuber size for complications of tuberous sclerosis complex.

INTRODUCTION: Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders. Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour. OBJECTIVE: The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC. MATERIAL AND METHODS: We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient. RESULTS: Four patients had voluminous tubers located in 1 or both cerebral hemispheres. All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients. Thirteen patients had tubers of large-to-average size, and all patients in this group showed intractable seizures and mental retardation. Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour. Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes. Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features. CONCLUSIONS: Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous.

Stroke due to septic embolism resulting from Aspergillus aortitis in an immunocompetent patient.

INTRODUCTION: Cerebral infarction secondary to Aspergillus arteritis or septic embolism is an exceptional finding. We present a case of multiple systemic embolism and cerebral infarction resulting from Aspergillus aortitis in an immunocompetent patient. PATIENT: A 65-year-old male with hypertension, hyperglycaemia and myocardial infarction with aorto-coronary by-pass surgery three years before admission, that suffered cerebral infarction in middle right cerebral artery territory and right cubital artery embolism. One month later he presented abrupt increase of his left hemiparesia and left central facial palsy associated with fever of unknown origin. Laboratory test, cranial CT and echocardiogram were performed. He died ten days later. RESULTS: Hemogram: leucocytes 34.700/microL (85% N, 4.8%L). Cranial CT: cerebral infarction in middle right cerebral artery territory. Transthoracic and transesophageal echocardiogram: moderate left ventricular hypertrophy and slight inferior hypokinesis. Arteriography: complete thrombosis of the left internal carotid. Necropsy: parietal aortic aspergillosis with generalized septic embolisms (brain, kidney, liver, fingers), cerebral infarction in middle right cerebral artery territory and thrombosis of the left carotid siphon with Aspergillus arteritis. CONCLUSIONS: Aspergillosis is an exceptional cause of cerebral infarction, especially in immunocompetent patients, and their diagnosis is complicated, being usually found at necropsy.

[Opsoclonus-myoclonus-ataxia syndrome: two anatomo-clinical case reports]. / Sindrome opsoclono-mioclono-ataxia: dos casos anatomoclinicos.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is characterised by the acute or subacute development of chaotic eye movements and diffuse myoclonus. On some occasions it is associated with ataxia and encephalopathy. In adults there are multiple causations and a possible paraneoplastic origin must always be taken into account. CASE REPORTS: We report two cases of OMAS of a paraneoplastic origin with a post mortem study. In the first case, the syndrome was associated to a small-cell carcinoma in the lungs, and in the second patient it was associated to a digestive lymphoma. Neuroimaging studies did not reveal any kind of alterations in either of the two cases. In our cases, none of the antibodies that are relatively frequently associated to this syndrome were found. In both of them, an immunomodulator treatment regimen was established; only the patient with the lymphoma showed an initial improvement with antineoplastic therapy. In the pathological study, alterations were observed in the brain stem, and in the second patient alterations were also found in the cerebellum. CONCLUSIONS: This is a rare condition that obliges the specialist to think in order to reach a correct diagnosis, and to search for the primary tumour and establish early treatment in order to bring about an improvement and even the remission of the neurological signs and symptoms. The pathological findings are not pathognomonic, but they are typical of this syndrome.

[Systemic necrotizing vasculitis in autopsy]. / Vasculitis necrosante sistémica en la autopsia.

OBJECTIVE: To analyze the characteristics of systemic necrotizing vasculitis observed in necropsy emphasizing the non-diagnosed cases until necropsy and to identify the reasons of clinical confusion. MATERIALS AND METHODS: Necropsies of adult patients performed in Hospital General La Paz, Madrid, from 1966 to 1977 were reviewed. Clinical manifestations, analytical changes and involvement of different organs were analyzed. The correspondence degree between clinical and necropsic diagnoses was studied. RESULTS: A total of 18 cases of necrotizing vasculitis were observed out of 3,980 necropsies. The most common clinical manifestations were fever and general syndrome (60%). The organs most commonly involved were kidney (94%) and gastrointestinal tract (56%). Diagnosis was revealed by necropsy in 39% of cases; in these cases, the incidence of heart failure and peripheral neuropathy was significantly lower, whereas digestive hemorrhage and liver, pancreas, adrenal gland, and bladder involvement was significantly higher. CONCLUSIONS: Systemic necrotizing vasculitis in underdiagnosed, which can be partly explained by the lack of specificity of the most common symptoms and the paucity of characteristic clinical and organ-specific manifestations which leads to confusion with more prevalent conditions.

Small arterial granular degeneration in familial Binswanger's syndrome.

A 55-year-old mildly hypertensive woman died after having developed a subcortical dementia during the past 9 years, with focal neurological signs. She presented at the age of 46 years with short episodes of dizziness and diplopia, suggesting that transient ischemic attacks involved the posterior fossa structures. Over the next 8 years, she developed difficulty in walking, urinary incontinence and seizures. On examination in 1989, she was severely demented. There was tetraparesis, bilateral arm and leg spasticity with hyperreflexia and bilateral Babinski signs. She showed epilepsia partialis continua involving the eyes, left hemiface and limbs. CT showed hypodensity of the white matter and lacunes in the basal ganglia and centrum semiovale, moderate hydrocephalus with cerebellar and cortical atrophy. Clinical and radiological features were similar to those of Binswanger's disease. Similar cases had occurred in the family affecting the patient's grandfather, father and two brothers, suggesting an autosomal dominant hereditary disease. Postmortem examination disclosed a Binswanger type of leukoencephalopathy caused by a peculiar microangiopathy characterized by a slightly basophilic small arterial granular degeneration of the medial sheath associated with the presence of ballooned smooth muscle cells with clear cytoplasm. Electron microscopic study revealed degenerative changes in the parietal vessels with notable increase of basal-membrane-type material and electron-dense granular deposits. These lesions could correspond to a specific familial pathology of the small arteries of the brain. They are identical to those reported in some patients with autosomal dominant inheritance. For other patients with similar clinical features and the same familial pattern, reported as "hereditary multi-infarct dementia'' and "chronic familial vascular encephalopathy'', there are no sufficient objective pathological facts to consider that they have the same disease.(ABSTRACT TRUNCATED AT 250 WORDS)

[Neuropathology of HIV infection]. / Neuropatología de la infección VIH.

Some references about the important neuropathologic lesions observed in patients with AIDS and about the variation on the relative incidence of the processes detected when analyzing clinic and neuropathologic tables, as well as a mention to the confusion created by terminological problems, clinicopathologic disagreement and wrong etiologic attributions, are used as an introduction to the exposition of HIV infection neuropathology. In a first section, Central Neuropathology is described, starting with the disorders considered as primarily caused by HIV. Then, infectious secondary Neuropathology, caused by different viruses, parasites, fungi or bacteria, and neoplastic secondary Neuropathology, mainly represented by localized lymphoma and by the uncommon Kaposi's disease, are analyzed. This section also includes references to cerebrovascular complications, Pediatric Neuropathology and ends with an analysis of cerebral biopsy indications. In the second part, Peripheral Neuropathology is described, splitting up peripheral nerve and muscle pathology.