1/9. Intracranial germ cell tumors in children with and without down syndrome.PURPOSE: Two Chinese children with down syndrome affected by intracranial germ cell tumors are described. Because they represent two of eight affected patients in the current series from 1990 to 1996, it is postulated that such occurrence may be more than a coincidental event. patients AND methods: Two children with down syndrome developed germ cell tumors in atypical intracranial sites that affected basal ganglion and cerebellum. The pathology showed germinoma and yolk sac tumor, respectively. These were treated by radical surgical resection and chemotherapy with cisplatin, etoposide, and bleomycin, but without radiotherapy. RESULTS: One patient survived 3 years without radiologic evidence of tumor. The other died from infective complications caused by severe myelosuppression after chemotherapy. CONCLUSIONS: Subtle neurologic manifestations in developmentally handicapped patients with intracranial space-occupying lesions could result in delayed diagnosis. Children with down syndrome suffering from brain tumors may have a higher chance for germ cell tumors. Assay for alpha-fetoprotein and beta-human chorionic gonadotrophin could hasten diagnosis in some cases. This observation and review of literature suggest an increased risk of developing intracranial germ cell tumors in subjects with down syndrome.- - - - - - - - - - ranking = 1keywords = basal ganglion, ganglion (Clic here for more details about this article) |
2/9. Intestinal microvillous atrophy in a patient with down syndrome and aganglionic megacolon.Intestinal microvillous disorders are an uncommon cause of severe diarrhea, with very poor prognosis. The authors report the case of a female infant with down syndrome, aganglionic megacolon, severe diarrhea, and jejunal biopsy with ultrastructural changes consistent with microvillous atrophy. The patient condition improved after a colostomy performed in the setting of the treatment of Hirschprung disease.- - - - - - - - - - ranking = 1.334018041357keywords = ganglion (Clic here for more details about this article) |
3/9. Uncommon ocular changes in Down's syndrome (mongolism).A one-year-old White female mongoloid child was seen with typical palpebral fissures, esotropia, myopic astigmatism, and nystagmus. Additional uncommon ocular findings included ganglionic neuroretinal hypoplasia (hypoplasia of the optic nerve) and bilateral congenital impatency of the nasolacrimal duct. An active search for these ocular changes is recommended in cases of Down's syndrome.- - - - - - - - - - ranking = 0.26680360827139keywords = ganglion (Clic here for more details about this article) |
4/9. Ileo-anal S-Pouch reconstruction in patients with total colonic aganglionosis after failed pull-through procedure.Total colonic aganglionosis (TCA) occurs in 3% to 12% of Hirschsprung's disease patients. Although numerous surgical techniques have been utilized for the treatment of these patients, little information is available regarding optimal surgical management of their frequent complications or failured procedures. The ileoanal S pouch (IASP) technique has been utilized in the treatment of children with familial adenomatous polyposis and ulcerative colitis. The authors present the results of salvage IASP in 3 TCA patients who had poor results after total colectomy and Soave pull-through.- - - - - - - - - - ranking = 1.334018041357keywords = ganglion (Clic here for more details about this article) |
5/9. The amygdala in Down's syndrome and familial Alzheimer's disease: four clinicopathological case reports.Senile plaques and neurofibrillary tangles were quantified in 14 subnuclei of the amygdala in the brains of 3 patients with Down's syndrome (DS), aged 19, 56, and 64 years, and in 1 patient with familial Alzheimer's disease (AD), aged 54 years. The amygdala of the 19-year-old Down's case contained numerous senile plaques (SPs) but no neurofibrillary tangles (NFTs). The distribution of neuropathological change in the amygdala was similar among the Down's and the Alzheimer's cases. Medical and ventral regions contained more SPs and NFTs than did lateral regions, and the SPs in ventromedial subnuclei generally were the "mature" type with a prominent amyloid core. In general, the numbers of SPs and NFTs were parallel in a given subnucleus with the striking exceptions of the deep medial basal, deep cortical, and lateral central nuclei that contained far more SPs than NFTs, and the medial and lateral superficial cortical nuclei that contained numerous NFTs but few SPs. Several subnuclei strongly interconnected with hippocampus and entorhinal cortex were more heavily involved than subnuclei related to the nucleus basalis of Meynert. The patterns of SP and NFT deposition are consistent with amygdaloid abnormalities found by others in sporadic AD. These findings demonstrate the similarity in amygdaloid pathology among Down's syndrome, familial Alzheimer's disease, and sporadic AD. The presence of senile plaques in the amygdala of the 19-year-old patient with DS suggests that the amygdala is a focus of early pathological change in DS and possibly AD.- - - - - - - - - - ranking = 0.031319437276624keywords = nucleus (Clic here for more details about this article) |
6/9. Down's syndrome in middle age. Topographical distribution and immunoreactivity of brain lesions in an autopsied patient.A 45-year-old patient with Down's syndrome was autopsied. The brain, weighing 800 g, was small in size, and serial sections revealed generalized gyral atrophy and ventricular dilatation. In the gray matter, there was diffuse neuronal degeneration characterized by numerous neurofibrillary tangles (NFTs), senile plaques and frequent amyloid angiopathy. Histochemical and electron microscopical analyses of these lesions showed no qualitative difference from those in Alzheimer's disease. A topographical study of NFTs showed that they were numerous in the limbic system and cerebral neocortex. Various numbers of NFTs were seen in the olfactory bulb, thalamus, medial geniculate body, innominate substance, putamen, caudate, pallidum, central gray, reticular formation, certain midline nuclei of the brainstem, substantia nigra, red nucleus and dorsal vagal nucleus. This distribution pattern was not different qualitatively from that in Alzheimer's disease, and such a similarity was especially evident in the olfactory bulb, where many tufted and mitral cells as well as anterior olfactory nucleus cells showed NFTs. These common features of brain pathology in Down's syndrome and Alzheimer's disease may be due to a specific gene defect in both diseases.- - - - - - - - - - ranking = 0.046979155914936keywords = nucleus (Clic here for more details about this article) |
7/9. A case of mosaic Down's syndrome concomitant with ganglioneuroma.We present the case of a 6-year-old boy with concomitant mosaic Down's syndrome and ganglioneuroma. To our knowledge, this is the first case report illustrating this association.- - - - - - - - - - ranking = 1.334018041357keywords = ganglion (Clic here for more details about this article) |
8/9. pathology of the auditory system in autosomal trisomies with morphometric and quantitative study of the ventral cochlear nucleus.Anomalies of the peripheral auditory system have been reported in major autosomal trisomies. In order to investigate the central auditory pathway, a quantitative and morphometric study of the ventral cochlear nucleus was performed in 2 cases of trisomy 13, 2 cases of trisomy 18 and 1 case of trisomy 21. Data were obtained using a Cambridge Imanco Quantimet 720 Image Analyzing System according to the methods already described. For statistical evaluation, trisomy 13 and 18 cases were considered as group 1-trisomies and compared to full-term controls. Each trisomy was then compared separately to both premature and full term control groups. trisomy 21 was investigated separately. Quantitative data in trisomy 18 suggest a slight maturational retardation of the ventral cochlear nucleus with respect to gestational age. No significant abnormalities were detected in trisomy 13, aside from those determined by the age difference, when compared to premature controls. The estimated total number of neurons in both trisomies did not differ statistically from that of the control groups. Other brain stem auditory nuclei did not show relevant pathology. Golgi impregnation of the temporal cortex revealed immature neuronal development, especially in trisomy 13. trisomy 21 showed a greatly reduced number of neurons in the ventral cochlear nucleus, a small nuclear volume, low cell packing density and an abnormally large mean neuronal diameter. The findings of this investigation are discussed and tentatively correlated to the hearing defects reported in these trisomies.- - - - - - - - - - ranking = 0.10961803046818keywords = nucleus (Clic here for more details about this article) |
9/9. Poly-FISH: a technique of repeated hybridizations that improves cytogenetic analysis of fetal cells in maternal blood.prenatal diagnosis of fetal chromosomal abnormalities using interphase fetal nucleated erythrocytes (FNRBCs) separated from maternal peripheral blood can be technically challenging due to the limited number of FNRBCs available for analysis, the limited number of probes that can be used simultaneously, and low FISH efficiency on the formaldehyde-fixed and immunohistochemically stained interphase FNRBCs. We developed a technique of sequential FISH analysis that involves removal of the previous hybridized probe under denaturing conditions, and rehybridization with different probes to improve FISH efficiency. This technique facilitates the analysis of multiple chromosome-specific probes on the same nuclei. Results from our experiments show that FISH can be performed at least nine times on the same interphase nucleus and at least three different probes can be used simultaneously. Thus, theoretically, at least 24 different chromosomes can be analysed on a single interphase fetal cell isolated from maternal blood. We have termed this technique 'Poly-FISH', and have successfully diagnosed trisomy 21, triploidy, and other chromosome abnormalities in FNRBCs using this technique.- - - - - - - - - - ranking = 0.015659718638312keywords = nucleus (Clic here for more details about this article) |