Pitfalls in cerebrospinal fluid test for the diagnosis of neurosyphilis.

OBJECTIVE: To determine the usefulness of cerebrospinal fluid tests in the diagnosis of neurosyphilis. METHODS: Two hundred and seven cerebrospinal fluid-Venereal Disease Research Laboratories tests were performed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia between 1992 and 1997. The records of 14 cases with progressive neurological disease and reactive serum fluorescent treponemal absorbent antibodies or treponemal pallidum hemagglutination test were reviewed for clinical presentation, cerebrospinal fluid analysis and Venereal Disease Research Laboratories, neuro-imaging abnormalities and compatibility with the diagnosis of neurosyphilis. The diagnosis of neurosyphilis was made if the patient had reactive serum fluorescent treponemal absorbent antibodies or treponemal pallidum hemagglutination, history of progressive neurological disease and increased cerebrospinal fluid cells or protein. RESULTS: None of the 207 cerebrospinal fluid-Venereal Disease Research Laboratories tests were reactive. The diagnosis of neurosyphilis was made in 10 out of 14 cases with progressive neurological disease and reactive serum rapid plasma reagin, fluorescent treponemal absorbent antibodies and treponemal pallidum hemagglutination. CONCLUSION: We conclude that if reactive cerebrospinal fluid-Venereal Disease Research Laboratories is required to confirm or diagnose neurosyphilis, most cases will be overlooked.

Pitfalls in cerebrospinal fluid test for the diagnosis of neurosyphilis.

OBJECTIVE: To determine the usefulness of cerebrospinal fluid tests in the diagnosis of neurosyphilis. METHODS: Two hundred and seven cerebrospinal fluid-Venereal Disease Research Laboratories tests were performed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia between 1992 and 1997. The records of 14 cases with progressive neurological disease and reactive serum fluorescent treponemal absorbent antibodies or treponemal pallidum hemagglutination test were reviewed for clinical presentation, cerebrospinal fluid analysis and Venereal Disease Research Laboratories, neuro-imaging abnormalities and compatibility with the diagnosis of neurosyphilis. The diagnosis of neurosyphilis was made if the patient had reactive serum fluorescent treponemal absorbent antibodies or treponemal pallidum hemagglutination, history of progressive neurological disease and increased cerebrospinal fluid cells or protein. RESULTS: None of the 207 cerebrospinal fluid-Venereal Disease Research Laboratories tests were reactive. The diagnosis of neurosyphilis was made in 10 out of 14 cases with progressive neurological disease and reactive serum rapid plasma reagin, luorescent treponemal absorbent-absorbent antibodies and treponemal pallidum hemagglutination. CONCLUSION: We conclude that if reactive cerebrospinal fluid-Venereal Disease Research Laboratories is required to confirm or diagnose neurosyphilis, most cases will be overlooked.

18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia: clinical and MRI correlations.

The clinical data and the imaging findings of the positron emission tomography (PET) and the magnetic resonance imaging (MRI) studies in five patients, previously diagnosed to have propionic acidemia, were retrospectively reviewed. The patients were all normal at birth. The first clinical signs, typically hypotonia and failure to thrive, appeared during the first 2 years of life. With progression of the disease, the neurological findings consisted of variable degrees of dementia and extrapyramidal symptoms, notably dystonia, choreoathetosis and rigidity of variable degrees. Initial cerebral PET and MRI studies were normal. Follow-up MRI examinations showed progressive basal ganglia degeneration, with evidence of atrophy and signal abnormalities within the caudate nuclei and the putamina. The thalamic structures were normal. The PET studies demonstrated increased uptake in the basal ganglia and thalami, followed by decreased uptake in the basal ganglia at a later stage of the disease. The structural (MRI) and the functional (PET) studies of the brain were found to be complementary in the evaluation of propionic acidemia, and were in good correlation with the clinical findings.

Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in glutaric aciduria type 1: clinical and MRI correlations.

The clinical, PET (positron emission tomography) and MRI (magnetic resonance imaging) findings of brain studies in eight patients, previously diagnosed to have glutaric aciduria type 1, were retrospectively reviewed. The neurological findings typically consisted of variable degrees of dementia and extrapyramidal symptoms (dystonia, choreoathetosis and rigidity). Both MRI and PET showed involvement of the putamina in all the patients. The PET scan demonstrated lesions in the head of the caudate nuclei in all of the patients. Brain atrophy, and in particular the characteristically-enlarged Sylvian fissures, was better demonstrated by MRI. On the other hand, the cerebral cortex and thalamic structures were found to be normal by MRI in all patients, whereas PET scan showed decreased uptake in the cerebral cortex in seven, and in the thalami in three patients. Correlation between imaging and clinical findings was found to be good when both PET scan and MRI findings of the brain were taken into consideration. Therefore, the functional (PET) and structural (MRI) studies of the brain were complementary in the imaging evaluation of glutaric aciduria type 1.

Biotin-responsive basal ganglia disease: a novel entity.

We describe a novel, biotin-responsive basal ganglia disease in 10 patients. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progresses to severe cogwheel rigidity, dystonia and quadriparesis. These symptoms disappear within a few days if biotin (5-10 mg/kg/day) is administered, and there are no neurological sequelae. They reappear within 1 month if biotin is discontinued. Patients diagnosed late, or who have had repeated episodes, suffer from residual symptoms such as paraparesis, mild mental retardation or dystonia. The numerous biochemical studies of intermediary metabolism, like the autoimmune and toxicological studies, enzyme assays including biotinidase, carboxylase and lysosomal activities, and bacterial and viral studies were all normal. The aetiology may be related to a defect in the transporter of biotin across the blood-brain barrier. The only consistent radiological abnormality was central necrosis of the head of the caudate bilaterally and complete, or partial, involvement of the putamen on brain MRI. This was present during the initial acute encephalopathy and remained unchanged during follow-up of 3-10 years. Although its aetiology is unknown, it is important to recognize this disease, since its symptoms may be reversed and the progression of its clinical course prevented simply by providing biotin.

Acute Wernicke's encephalopathy associated with hyperemesis gravidarum: magnetic resonance imaging findings.

A 25-year-old woman with hyperemesis gravidarum developed acute Wernicke's encephalopathy during prolonged intravenous fluid therapy without vitamin supplements. Delay in diagnosis led to a persistent severe neurological deficit, including coma. Gadolinium-diethylenetriaminepentaacetic acid-enhanced magnetic resonance imaging revealed symmetrical lesions around the aqueduct and fourth ventricle, which resolved after treatment with thiamine. She did not regain consciousness. This report demonstrates the diagnostic value of enhanced magnetic resonance imaging in acute Wernicke's encephalopathy.

Mesencephalo-diencephalic angioanatomy in arteriovenous malformations. Endovascular management of transmesencephalic vs subependymal supply in 954 cases between 1982 and 1994.

This report presents the arteries of the mesencephalo-diencephalic region and their different role in the supply to the cerebral structures. Among them, the authors distinguish the subependymal and transmesencephalic arteries to which they pay a special attention since these vessels present a specific angiographic aspect. The importance of their differentiation is emphasized. The authors discuss the management of subependymal and (trans)mesencephalic arteries during endovascular neuro-intervention illustrative cases.

Mediastinal hydatid disease: report of three cases.

We report three patients who had mediastinal echinococcosis and then review the literature. The first patient had a primary anterior mediastinal echinococcal cyst, the second a mediastinal hydatid cyst, secondarily involving the mediastinum and mimicking Hodgkin's disease, and the third had a primary cardiac and pericardial hydatid cyst. In two patients computed tomography (CT) was helpful in making a preoperative diagnosis before any complication could arise. In the third CT was not done and the diagnosis of cardiac echinococcosis at surgery was a surprise. Two large echinococcal cysts compressing the ventricles, which on echography and cardioangiography had the appearance of endomyocardial fibrosis, were removed by total excision. The disease in each patient was correlated with clinical and radiologic findings and was confirmed by tissue microscopy.