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Biomedical subjects

P F Finelli

Publications and source records attributed to P F Finelli.

At least 37 records · Page 2Linked to original sources

Drug-induced Creutzfeldt-Jakob like syndrome.

A patient with progressive neurological deterioration characterized by cognitive impairment, myoclonus, Parkinson's syndrome, an abnormal electroencephalogram and fasciculations was considered for brain biopsy for suspected Creutzfeldt-Jakob disease. Complete clinical recovery followed discontinuation of lithium and nortriptyline. Awareness of this unusual drug-induced Creutzfeldt-Jakob like syndrome can avoid costly, invasive and unnecessary investigative procedures.

Creutzfeldt-Jakob Syndrome↗

Seizure as a cause of fracture.

Of 2,800 patients admitted to hospital with a diagnosis of seizure, 1.1% (30/2,800) sustained fracture. Of these, 0.5% (15/2,800) had fracture due to direct trauma, 0.3% (7/2,800) had fracture as a consequence of seizure alone, and in 0.3% (8/2,800) the etiology was not determined. In the trauma group, 11 of 17 fractures involved the skull, nasal bones, and clavicle, while in the nontrauma group, the proximal humerus was the site in 6 of 9 fractures. These findings indicate that fracture is an uncommon complication of seizure and is extremely rare in the absence of trauma where, however, the fracture may be pathognomonic (bilateral posterior dislocation or fracture-dislocation of the shoulder) or highly suggestive (unilateral posterior dislocation, fracture-dislocation of the shoulder) of seizure.

Accidental Falls↗

Metachromatic leukodystrophy manifesting as a schizophrenic disorder: computed tomographic correlation.

A 32-year-old woman with a 12-year history of schizophrenia demonstrated symmetrical bifrontal and biparietal periventricular hypodensities on computed tomographic scan. Sural nerve biopsy and urine and leukocyte enzyme assay confirmed the diagnosis of metachromatic leukodystrophy. The computed tomographic correlate in an adult with metachromatic leukodystrophy in whom the psychiatric manifestations were the predominant clinical feature is described.

Adult↗

Neurological findings in patients with the fragile-X syndrome.

We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had blepharospasm. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.

Adult↗

Cerebral amyloid angiopathy manifesting as recurrent intracerebral hemorrhage.

Over a period of eight years, a normotensive woman experienced eight strokelike episodes. Computed tomographic (CT) scans obtained during each of the last seven episodes demonstrated intracerebral lobar hemorrhage. Cerebral angiography and contrast-enhanced CT scans demonstrated no underlying abnormality. Our patient had recurrent intracerebral hemorrhage (ICH) with no predisposing factors or dementia. The clinical diagnosis was primary cerebral amyloid angiopathy (CAA). Brain biopsy specimens demonstrated light microscopic and ultrastructural evidence of amyloid in cerebral arterioles. We believe that the combined clinical, CT, and ultrastructural changes in this case are unique. Recurrent ICH visualized by CT scanning has diagnostic value in CAA.

Aged↗

Bilateral hemorrhagic infarction of the pallidum.

Symmetric pallidal necrosis from a variety of causes is well appreciated pathologically. Corresponding computed tomographic (CT) changes have only infrequently been reported and on no occasion have the lesions been hemorrhagic. We describe the CT correlate of a previous neuropathologic observation of bilateral hemorrhagic infarction of the globus pallidus in association with acute renal failure. Factors predisposing to these changes are considered.

Basal Ganglia Diseases↗

Ethylene oxide-induced polyneuropathy. A clinical and electrophysiologic study.

Occupational exposure to ethylene oxide (ETO) was manifested as a subacute polyneuropathy, with bilateral footdrop and denervation potentials on electromyography as the principal abnormalities in three young adults whom we examined. To our knowledge, this is the second report of neurotoxic effects caused by long-term ETO exposure in humans and brings the number of patients described with symptomatic polyneuropathy to five.

Adolescent↗

Adult celiac disease presenting as cerebellar syndrome.

A progressive pancerebellar syndrome in a 57-year-old man heralded what was subsequently diagnosed by malabsorption studies and jejunal biopsy as adult celiac disease. Postmortem examination demonstrated characteristic gastrointestinal and cerebral abnormalities associated with this enteropathy. The neuropathology underlying the ataxia, as well as the clinical features of palatal myoclonus and marked speech impairment, included marked cerebellar cortical atrophy with cell loss in dentate and olivary nuclei. Intestinal-absorption studies are indicated to evaluate patients with any neurologic illness that may be related to malabsorption.

Brain Stem↗