11/1502. Delineation of two distinct 6p deletion syndromes.Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
12/1502. Progressive ponto-bulbar palsy with deafness. A clinico-pathological study.Progressive ponto-bulbar palsy with deafness is a rare disease. It seems to be an abiotrophic process with autosomal recessive inheritance in most instances. Only one autopsy case had been briefly described (Lelong et al., 1941). The clinical features and the pathological findings of a new case are reported. The structures primarily involved are the grey matter of the brain stem and the spinal cord, including to some extent the optic tracts and most of the fiber tracts in the brain stem with exception of the pyramidal tracts.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
13/1502. Splenic syndrome in sickle cell trait: four case presentations and a review of the literature.Four cases of splenic infarction/sequestration in sickle cell trait (SCT) patients are presented. All four patients were undergoing moderate exercise at elevations ranging from 5,500 to 12,000 feet. The patients include two African-American males, a Hispanic male, and a white female. All four presented with the acute onset of mid epigastric then left upper-quadrant pain, nausea, vomiting, and respiratory splinting. A review of the literature indicates that splenic infarction with SCT is not uncommon; however, not surprisingly, it is often initially misdiagnosed. This is the first report in the literature of a female with SCT incurring a splenic syndrome with exposure to terrestrial altitude. Although SCT is not a contraindication for moderate- or high-altitude activities, military physicians need to consider the diagnosis of splenic infarction early in any patient regardless of race or sex who presents with left upper-quadrant pain at altitudes above 5,000 feet. Prompt evacuation to sea level may hasten recovery and spare further splenic trauma. Although SCT should be considered a relatively benign entity, the literature also suggests a higher than average risk of sudden death in military recruits with SCT from exertional heat illness and rhabdomyolysis.- - - - - - - - - - ranking = 0.0030912874589741keywords = trauma (Clic here for more details about this article) |
14/1502. On some neurobiological and cultural-anthropological aspects of the contralateral-neglect syndrome.Contralateral neglect is a frequent clinical syndrome which can be provoked by lesions in several brain areas (primarily inferior parietal and frontal) and includes symptoms of motor and perceptual negligence of both real and imaginative contralateral hemi-space. Attentional and representative theories attempting to explain neglect are presently the most popular. This paper analyzes two cases of neglect patients. Paying attention especially to their reading defects, a possible role of the persons with contralateral neglect is proposed in the development of script. Other neurobiological and cultural-anthropological questions arising from the analysis of these cases are also discussed.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
15/1502. Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert's syndrome.Joubert's syndrome is a well-documented but rare disorder characterized by a variable combination of central nervous system, respiratory, renal and eye anomalies. The most significant and constant neuropathological finding is partial or complete agenesis of the cerebellar vermis. The syndrome was first described by Joubert and colleagues as a familial agenesis of the cerebellar vermis and appears to be inherited as an autosomal recessive trait. A case of Joubert's syndrome is described in which second-trimester ultrasonography demonstrated abnormal findings in the fetal posterior fossa with associated renal abnormalities. However, postnatal sonography of the posterior fossa could not confirm the prenatal findings, and the diagnosis of Joubert's syndrome was only later established by computed tomography of the neonatal brain in the knowledge of the characteristic clinical picture.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
16/1502. Successful treatment of whiplash-type injury induced severe pain syndrome with epidural stimulation: a case report.Chronic severe cervico-facial pain syndrome associated with a whiplash-type injury was successfully treated with epidural spinal cord stimulation. The patient had been in pain for 9 years, responding temporarily only to stellate ganglion blocks. The patient has now been painless for 18 months. We have been unable to find a similar case reported in the literature to date.- - - - - - - - - - ranking = 0.25679237414205keywords = injury (Clic here for more details about this article) |
17/1502. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.We report on a 4 year-old girl with a 1p36.3-pter deletion. Clinical findings included minor anomalies of face and distal limbs, patent ductus arteriosus, the Ebstein heart anomaly, and brain atrophy with seizures. Conventional GTG-banded chromosome analysis revealed a normal (46,XX) result. Subsequent analysis by fluorescent in situ hybridization (FISH) using distal probes demonstrated a deletion of 1p36.6-pter. Molecular investigations with microsatellite markers showed hemizygosity at three loci at 1p36.3 with loss of the paternal allele. The deletion of 1p36.3 is difficult to identify by banding alone; indeed, our patient represents the third reported case with a del(1)(p36.3) that was detected only after more detailed analysis. In all three cases the deletion was detected through screening of patients with multiple congenital anomalies/mental retardation syndromes suggestive of autosomal chromosome aberrations for subtelomeric submicroscopic deletions by means of FISH or microsatellite marker analysis. On the basis of these observations we highly recommend that FISH with a subtelomeric 1p probe be routinely performed in patients with similar facial phenotype, severe mental retardation and seizures, and a heart malformation, particularly the ebstein anomaly.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
18/1502. nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or may reflect one of at least three syndromes: Galloway-Mowat, a second syndrome of microcephaly, nephrotic syndrome and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short stature.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
19/1502. Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.Impaired glucose transport across brain tissue barriers causes infantile seizures, developmental delay and acquired microcephaly. Since the first report in 1991 (De Vivo et al, NEJM, 1991) 17 patients have been identified with the glucose transporter protein syndrome (GTPS). The diagnostic feature of the syndrome is an unexplained hypoglycorrhachia in the clinical setting of an infantile epileptic encephalopathy. We review our clinical experience by highlighting one illustrative case: a 6-year old girl who presented at age 2 months with infantile seizures and hypoglycorrhachia. The CSF/blood glucose ratio was 0.33. dna sequencing identified a missense mutation in exon 7 (C1108T). Erythrocyte GLUT1 immunoreactivity was normal. The time course of 3-O-methyl-glucose (3OMG) uptake by erythrocytes of the patient was 46% that of mother and father. The apparent Km was similar in all cases (2-4 mmol/L), but the apparent Vmax in the patient was only 28% that of the parents (500 versus 1,766 fmol/s/10(6)RBC; p < 0.004). In addition, a 3-month trial of oral thioctic acid also benefited the patient and increased the Vmax to 935 fmol/s/10(6) RBC (p < 3 x 10(-7)). Uptake of dehydroascorbic acid by erythrocytes of the patient was impaired to the same degree as that of 3OMG (Vmax was 38% of that of the mother's), which supports previous observations of GLUT1 being multifunctional. These studies confirm the molecular basis of the GTPS and the multifunctional role of GLUT1. The need for more effective treatment is compelling.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
20/1502. Congenital facial neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).Four patients with clinical features of Goldenhar-Gorlin syndrome who showed facial paralysis on clinical examination are presented. The fourth case died following surgery for cleft lip. autopsy revealed hypoplasia of the right facial nerve in its intracranial segment, with small right facial nucleus in the brain stem. Nosological aspects of the Goldenhar-Gorlin syndrome are discussed. Peripheral facial paralysis, as a part of this syndrome, is reviewed in the light of clinical and pathological findings and in its relationship to cardiac anomalies. It is suggested that Goldenhar-Gorlin syndrome is a part of a so-called cardiofacial syndrome.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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