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Biomedical subjects

C Viseskul

Publications and source records attributed to C Viseskul.

At least 19 recordsLinked to original sources
PubMed1990

Abundant REM sleep in a patient with Alzheimer's disease.

In patients with Alzheimer's disease (AD), greatly diminished REM sleep might be expected because of the cholinergic deficit in this disease and because cholinergic agonists stimulate REM sleep in humans and animals. We present here an unusual case of neuropathologically verified AD with abundant REM sleep. We suggest 4 possible explanations for this phenomenon: (1) selective cell loss in caudal midbrain/rostral pontine structures known to control sleep; (2) development of narcolepsy; (3) unrecognized affective disorder; (4) disruption of circadian timekeeping system.

Aged↗
PubMed1990

Neonatal intracranial choriocarcinoma.

A 1-month-old infant died from extensive intracerebral hemorrhage due to a metastatic choriocarcinoma to the brain that presumably originated in the placenta. The clinical course was characterized by hyperbilirubinemia, repeated episodes of seizures, and intracranial hemorrhage. A computed tomographic scan revealed a large vascular mass in the left parieto-occipital region and a small lesion in the left frontal lobe. The placenta was expelled during the delivery and was not examined. In view of the high level of maternal human chorionic gonadotropic hormone and the autopsy finding of metastasis, we presumed that the mass was a metastatic choriocarcinoma that had originated in the maternal placenta. To our knowledge, only one previous instance of this phenomenon has been reported.

Brain Neoplasms↗
PubMed1979

Basal ganglia calcification in Kearns-Sayre syndrome.

The Kearns-Sayre syndrome (KSS) appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the retina, heart block, and elevated CSF protein levels. Recent reports have suggested that abnormalities of muscle mitochondria may also be a consistent finding in KSS. We recently examined a patient with KSS whose skeletal muscle contained abnormal mitochondria. In addition, a computerized tomographic scan of the head showed cerebellar and brain stem atrophy, as well as calcification in the region of the basal ganglia.

Basal Ganglia↗
PubMed1978

Myocardial infarct in a child with systemic lupus erythematosus.

An unusual case of systemic lupus erythematosus (SLE) in a young child is reported with sudden death from myocardial infarction. The diagnosis of lupus erythematosus in this patient was made by renal biopsy at the age of 3 years. Atherosclerosis of the coronary arteries and aorta was found at autopsy with occlusion of the anterior descending branch of the left coronary artery. It is suggested that the vascular changes in this case were related to hypertriglyceridemia and prolonged prednisone therapy superimposed on a hypersensitivity vasculitis related to SLE.

Child, Preschool↗
PubMed1977

Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic disease.

The cerebellar vermises from a 1 day old child who died with cystic dysplastic kidneys (Potter Type II) and from a 28 day old who died with infantile polycystic kidneys (Potter Type I) were studied by the Golgi silver method and electron microscopical procedures. Golgi stains showed that Purkinje cells from both cases had the following abnormal characteristics: (1) they retained perikaryal processes even at 37-42 weeks after conception although these processes are normally absent from the cerebellar vermis after 34 weeks of gestation; (2) The Purkinje cell dendrites had dilations at their numerous branchpoints. Ultrastructural studies indicated that climbing fibers remained in contact with the perikaryon of the Purkinje cell in both cases although they are not normally present on the perikaryon after 33 weeks gestation. The 1 day old child (Type II) had unusual synaptic structures of the dyad and serial type. The concurrence of cerebellar and kidney cell maldevelopment in this and a variety of other conditions suggests that there may be a pathogenetic and causal relationship between the two.

Cerebellum↗
PubMed1977

Sudden infant death due to congenital adrenal hypoplasia.

Adrenocortical hypoplasia was found to be the cause of sudden death in a 9-month-old infant. Most sudden infant deaths in the first year of life are related to the sudden infant death syndrome, in which no specific pathologic changes are found at autopsy. Although specific causes for sudden death in infancy are well documented, adrenocortical hypoplasia is not a well-recognized cause of sudden infant death.

Adrenal Glands↗
PubMed1977

New neurological findings in trisomy 13.

The patient in this report had many of the classic neuropathologic stigmata of trisomy 13, including retinal dysplasia, arrhinencephaly, holoprosencephaly, single external nare and granular cell heterotopias in the cerebellum and microthalmia. In addition, several new findings apparently were present in this case. The neuropathologic entities were as follows: (1) herniation of the cochlear nuclei into the eighth cranial nerve bilaterally to the transition of central to peripheral myelin; (2) gray matter present in eleventh cranial nerve bilaterally; (3) arteriovenous malformations of letpomeningeal and intracerebral vessels; (4) arachnoid cyst at the cauda equina; and (5) retinal pigment epithelium within the optic nerve.

Accessory Nerve↗
PubMed1976

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases.

This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly and nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent. The differential diagnosis of the WBS includes 1) the Wilm's tumor (WT)-aniridia syndrome: 2) the "tumor-hypertrophy syndrome" which includes WT, adenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the "tumor-nevus syndrome" with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy. Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring.

Abnormalities, Multiple↗
PubMed1976

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.

Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immature shape of pelvis, and disappearance of the punctate calcifications with advancing age. The histologic changes of the resting cartilage include areas of degenerating cartilage which had become partially calcified, cystic changes with severe disturbance of the maturation of the cartilage at the physial plate, and the formation of cancellous bone directly on resting cartilage. Ultrastructural changes are characterized by degeneration of chondrocytes, delicate collagenous fibrils without visible periodicity, and the presence of flocculent material within greatly distended endoplasmic reticulum.

Bone and Bones↗
PubMed1975

Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural study.

Pathological, histochemical and ultrastructural studies on 3 siblings with GM1 gangliosidosis type II are reported. These studies support a biochemical defect with profound deficiency of beta-galactosidases which results in widespread accumulation of the GM1 ganglioside and its asialo derivative in brain and to a lesser extent in viscera, as well as in storage of a keratan sulphate-like mucopolysaccharide. Striking valvular changes in the heart without myocardial involvement were seen in all cases. The histochemical and ultrastructural changes are similar to those seen in GM1 gangliosidosis type I, though less severe. Autosomal recessive inheritance without apparent ethnic predilection seems likely.

Autopsy↗
PubMed1975

Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review.

This paper reports sporadic occurrence of the Pfeiffer syndrome with Kleeblattschädel (KS) in a male infant who died at 6 months of pneumonia with signs of increased intracranial pressure and who was found to have hydrocephalus, polymicrogyria, cerebellar herniation, bicuspid aortic valve, a common mesentery, absence of lesser omentum, hypoplasia of gallbladder, a single umbilical artery, and multiple eye defects. This case is presumed to represent a new mutation: in other families the Pfeiffer syndrome has been dominantly inherited. The Pfeiffer syndrome is a form of acrocephalosyndactyly and impresses clinically as a mild form of the Apert syndrome. The Kleeblattschädel is an etiologically non-specific developmental field defect (DFC); about two fifths of 51 known cases have apparent thanatophoric dwarfism and about one fifth are probable or possible examples of the Pfeiffer syndrome. The KS-DFC has also been seen in the syndromes of Carpenter, Apert and Crouzon.

Abnormalities, Multiple↗