ABSTRACT
An absence of spongiform change differentiates the pure thalamic degeneration (PTD) from the thalamic form of Creutzfeldt Jakob Disease (CJD). This report describes a case which in addition to the neuropathological changes typical of primary thalamic degeneration showed a single small focus of spongiform change in the cerebral cortex. The exceptional instances of thalamic degeneration associated with limited spongiform change among which this case is unique by virtue of the size of the single focus of vacuolation probably represent a variant of the thalamic form of CJD. In the context of potential infectious etiology the fact that the patient had a blood transfusion five months before the onset of neurological illness is of interest.
Subject(s)
Creutzfeldt-Jakob Syndrome/pathology , Dementia/pathology , Nerve Degeneration/physiology , Prion Diseases/pathology , Thalamic Diseases/pathology , Brain Stem/pathology , Cerebellum/pathology , Female , Gliosis/pathology , Humans , Middle Aged , Nerve Fibers, Myelinated/pathology , Neurons/pathology , Thalamus/pathologyABSTRACT
In a review of the literature on triggering mechanisms in reflex epilepsy, we found no reported instance of drawing as the provoking factor. Recently we studied the case of a 17-year-old man with myoclonic seizures. These seizures were most effectively triggered by drawing, although occasionally they occurred spontaneously and could also be evoked by other activities requiring concentration. The results of a neurological examination were normal, and family history was unremarkable. Treatment with primidone and methsuximide has been very effective.
Subject(s)
Epilepsies, Myoclonic/etiology , Adolescent , Art , Humans , MaleABSTRACT
Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD. Pituitary-adrenal function studies were performed in 10 family members, including two affected males and four females identified as carriers of ALD/AMN. No pituitary-adrenal abnormality was found in the carriers. However, basal morning plasma adrenocorticotropic hormone (ACTH) levels were markedly elevated in the two males with ALD and AMN, despite the fact that they had no clinical signs of adrenal insufficiency and that morning plasma cortisol levels and their response to maximal exogenous ACTH stimulation appeared to be normal. In addition, the integrated 24-hour response to the administration were also subnormal in these two cases. Thus, people with ALD and AMN may have subclinical partial adrenocrotical insufficiency. No other endocrinologic dysfunction was identified.
Subject(s)
Adrenal Insufficiency/genetics , Demyelinating Diseases/genetics , Polyneuropathies/genetics , Adolescent , Adrenal Glands/pathology , Adrenal Insufficiency/pathology , Adult , Brain/pathology , Child , Demyelinating Diseases/pathology , Female , Genetic Carrier Screening , Humans , Inclusion Bodies/ultrastructure , Macrophages/pathology , Male , Pedigree , Pituitary-Adrenal Function TestsABSTRACT
Methylmercury poisoning occurred in four cases after passage of methylmercury through the food chain. The neurological damage in all four cases was severe. The damage was greater at younger ages with maximum involvement in the case of transplacental poisoning. Significant recovery occurred in two cases, but on six-year follow-up two cases remained severely impaired. Clinical and electrophysiological evidence suggests that damage to peripheral sensory nerves may not be the cause of the late sensory symptomatology.
