1,721,018 research outputs found
From the liver to the brain: manganese matters : Focus on cirrhosis-related Parkinsonism.
No full textElectrodiagnosis in cranial botulism
Full text linkBotulism is an acute neurologic disorder that causes potentially life-threatening neuroparalysis resulting
in weakness and laccid paralysis. In addition to the autonomic nervous system, botulism may involve
only the cranial nerves, thus posing special diagnostic problems. Almost all cranial nerves are not easily
testable. The anatomical and physiological characteristics of the spinal accessory nerve makes it very
suitable to electrophysiological diagnosis of cranial botulism.
Although with a working diagnosis of botulism, treatment should not be delayed pending
neurophysiological tests, electrophysiological studies including spinal accessory nerve may assist in
diagnostic differentiation between cranial botulism and other disorders with similar clinical
presentations such as Miller-Fisher and myasthenia gravis
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.
No full textBACKGROUND:
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder characterized by a heterogeneous presentation and a broad spectrum of clinical manifestations. Since early diagnosis and replacement therapy with chenodeoxycholic acid can prevent clinical deterioration, our aim was to develop a diagnostic tool to identify and treat CTX patients at an initial stage of the disease.
METHODS:
We devised a suspicion index, composed of weighted scores assigned to indicators such as family history characteristics and common systemic and neurological features, on the basis of a pooled analysis of selected international CTX series. The indicators were classified as very strong (score 100), strong (50) or moderate (25). The suspicion index was then applied retrospectively to our CTX population.
RESULTS:
Early systemic signs such as cataract, diarrhea and neonatal cholestatic jaundice were considered strong indicators, together with neurological features such as intellectual impairment, psychiatric disturbances, ataxia, spastic paraparesis and dentate nuclei abnormalities at MRI. Tendon xanthomas were regarded as very strong indicators, as was an affected sibling. A total score ≥ 100 warranted serum cholestanol assessment. Elevated cholestanol or a total score ≥ 200, with one very strong or four strong indicators, warranted CYP27A1 gene analysis. In our patients, age at diagnosis was 35.5 ± 11.8 years (mean ± standard deviation), whereas with the diagnostic tool it became 10.6 ± 9.8 years (p < 0.01).
CONCLUSIONS:
Our suspicion index provides a simple and inexpensive diagnostic tool allowing diagnosis and treatment of CTX before neurological disability occurs
Polyneuropathy with demyelinating changes in Churg–Strauss syndrome: an unusual association
No full text
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