Cherry-red Spot Research Articles

The natural history of varices

Variceal bleeding and its ensuing complications correlate positively with the severity of liver disease. The average risk of bleeding in patients with cirrhosis who have not previously bled is 30%, with a 50% mortality rate within 6 weeks. This mortality rate is the rationale for prophylaxis. However, although fatal bleeding causes 35% of all deaths, patients who die after the first episode of bleeding represent only 15% of patients with cirrhosis and varices. Portal and intravariceal pressure, the appearance of oesophageal varices on endoscopic examination, severity of liver disease and alcohol abuse are independent risk factors for the occurrence of the first bleeding episode. In sinusoidal portal hypertension, the presence of varices indicates a hepatic venous pressure gradient > or = 12 mmHg. Although hepatic venous pressure gradient tends to be higher in patients who bleed or have large varices, bleeding risk is not related linearly to pressure above this threshold. Tension on the variceal wall relative to varix radius may be critical and increasing variceal size, in conjunction with wall thinness, may favour rupture at lower intraluminal pressures. The North Italian Endoscopic Club's simplified index for the risk of a first bleeding episode is based on Child class, variceal size and presence of red wale markings, although there may be other independent risk factors. Abstention from alcohol can decrease variceal size and the number of cherry-red spots. Because large varices are unlikely to develop de novo within 2 years, biennial endoscopic screening is sufficient for patients without varices; annual endoscopy is recommended for those with small varices.(ABSTRACT TRUNCATED AT 250 WORDS)

Increased gastric mucosal perfusion in cirrhotic patients with portal hypertensive gastropathy

To characterize gastric mucosal perfusion in cirrhotic patients with portal hypertensive gastropathy, 34 cirrhotics with this lesion and 24 noncirrhotics were studied by reflectance spectrophotometry and laser-Doppler flowmetry during endoscopy. A significant correlation was observed between the hemoglobin content of the gastric mucosa, measured by reflectance spectrophotometry, and the serum hemoglobin concentration both in cirrhotics (r = 0.72) and in noncirrhotics (r = 0.87). IHb ratio (hemoglobin content of gastric mucosa divided by blood hemoglobin concentration) was higher in cirrhotics with portal hypertensive gastropathy than in noncirrhotics (P < 0.001), whereas the oxygen content of the gastric mucosa was similar in both groups. This pattern indicates that cirrhotics with portal hypertensive gastropathy have increased gastric perfusion without congestion. Gastric blood flow estimated by laser-Doppler was significantly higher in cirrhotics with portal hypertensive gastropathy than in noncirrhotics (P < 0.001). In cirrhotic patients, gastric areas with cherry red spots showed a significantly higher IHb ratio than areas with a mosaic or scarlatina pattern (P < 0.05). The magnitude of changes in gastric perfusion and the endoscopic severity of portal hypertensive gastropathy had no relationship with the degree of portal hypertension or the azygos blood flow.

Characterization of spontaneous and ethanol-induced gastric damage in cirrhotic rats

Cirrhosis was induced in Sprague-Dawley rats via ligation of the common bile duct. Changes in gastric blood flow and mucosal architecture were examined. Using an ex vivo gastric chamber preparation, the susceptibility of the cirrhotic gastric mucosa to injury by 20% ethanol was also examined. The gastric mucosa of cirrhotic animals was abnormal, even before ethanol administration. The macroscopically visible damage in these animals ranged from superficial hyperemia to epithelial sloughing. These gastric lesions were similar in appearance to the gastropathy described in cirrhotic patients, including “cherry-red spots” and areas of generalized erythema. Cirrhotic rats had a lower resting gastric transmucosal potential difference than control rats, and their gastric mucosa was also significantly more susceptible to damage by topical ethanol application. Ethanol administration caused a significant increase in gastric blood flow in control rats, whereas it significantly decreased gastric blood flow in cirrhotic rats. This lack of a reactive hyperemic response in cirrhotic rats may be responsible for the increased susceptibility of the gastric mucosa to ethanol-induced damage.

Portal Hypertensive Gastropathy

Portal hypertensive gastropathy is a lesion unique to portal hypertension. A mosaic pattern or cherry red spots on the gastric mucosa is the usual endoscopic finding. Currently, patients who bleed from their portal hypertensive gastropathy require endoscopic confirmation of the diagnosis, followed by treatment aimed at reducing gastric mucosal blood flow, either by portal decompression surgery or propranolol.

Late-Infantile Type Galactosialidosis

We studied histopathologic findings from the retina and optic nerve of a patient with the late-infantile type of galactosialidosis and related them to clinical features of the condition. Markedly fewer ganglion cells were evident histopathologically using light microscopy. Results of histochemical studies demonstrated abnormal accumulation of lipid and proteinaceous material in the residual swollen ganglion cells. Marked loss of myelinated nerve fibers and thickening of the pial septum were also observed in the optic nerve. Both retinal ganglion cells and amacrine cells had intracytoplasmic inclusion bodies, but none were found in the optic nerve. These findings suggested that optic atrophy was induced by axonal wallerian degeneration secondary to retinal ganglion cell death. Although the fundus showed advanced optic nerve atrophy, a cherry red spot was not evident, possibly because of the marked decrease in ganglion cells in this case.

Adult-Form Galactosialidosis: Ocular Findings in Three Cases

We reported ocular findings of 3 patients with adult-form galactosialidosis. Diffuse fine opacities in the deep layer of the corneal stroma, an obscure cherry-red spot of the macula and optic nerve atrophy were noted in all cases. Punctate lenticular opacities were observed in 2 cases. Slowly progressive visual disturbance was seen in all cases, and it might be due to secondary optic nerve atrophy caused by retinal ganglion cell death.

Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis)

The authors report the sequence of the clinical symptoms in type I sialidosis or cherry-red spot myoclonus syndrome, derived from the cases personally observed and from the literature. They also report neuropathological and neurochemical data. A serial EEG study in a case shows the tendency to a progressive deregulation of cerebral electric activity. Therapeutic attempts to reduce myoclonus, which is one of the more disabling symptoms in this syndrome, are described.

Combined deficiency of β‐galactosidase and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form

We describe the clinical findings over the first 18 years of a patient with a novel phenotype for galactosialidosis, the storage disease produced by the combined deficiency of beta-galactosidase and neuraminidase. Clinical findings in the first few months included somewhat unusual appearance and hepatosplenomegaly. Dysostosis multiplex was evident by age 2 1/2 years. Mitral and aortic valvular disease appeared over the next few years and cardiac disease has become the most important clinical problem. Foam cells were present in the bone marrow, and vacuolated lymphocytes were present in the peripheral blood smear. The patient had no neurological symptoms, cherry red spots, or intellectual deterioration during the first 18 years. Evidence presented elsewhere indicates that the basic defect in this late infantile form of galactosialidosis (as is thought to be true for the other forms of galactosialidosis) is a reduced amount of the 32 kDa phosphoglycoprotein which associates with beta-galactosidase and alpha-neuraminidase in lysosomes.

Retinal Toxicity of Intravitreal Gentamicin

The short- and long-term effects of a 10-mg dose of intravitreal gentamicin were studied in the subhuman primate eye with regard to the changes in clinical appearance, fluorescein angiography, electroretinography, histopathologic finding, and electron microscopy. The gentamicin produced retinal whitening with a cherry-red spot, generalized vascular incompetence, diffuse retinal necrosis, thrombosis of the large retinal blood vessels, widespread loss of the retinal capillary pericytes and endothelial cells, and a rapid extinction of the electroretinogram.

A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies

Clinical and biochemical studies are reported on a 32-year-old man with GM1 gangliosidosis who presented with a slowly progressive dystonia that began when he was aged 7 years and eventually became almost totally incapacitating at the age of 35. There was only mild intellectual deterioration, but myoclonus, seizures and macular cherry-red spots were never observed. Proton-density and T2-weighted MRI scans showed symmetrical hyperintense lesions of both putamina. No increase of GM1 ganglioside was found in plasma or cerebrospinal fluid, and the metabolism of GM1 ganglioside in cultured skin fibroblasts from the patient was also almost normal, although the residual activity of GM1 ganglioside beta-galactosidase activity was only 10% of normal. These findings suggest that impaired GM1 ganglioside metabolism is not present systemically as it is in the infantile and juvenile types of the disorder, but is mainly confined to the central nervous system in chronic GM1 gangliosidosis.

P26 Multimodality evoked potentials and EEG in a case of cherry red spot myoclonus syndrome

P26 Multimodality evoked potentials and EEG in a case of cherry red spot myoclonus syndrome

Congestive gastropathy and other upper endoscopic findings in 81 consecutive patients undergoing orthotopic liver transplantation.

Pretransplant endoscopic findings in 81 consecutive patients with nonalcoholic liver disease were examined to determine the spectrum of abnormalities encountered, with particular attention to mucosal changes consistent with congestive gastropathy. Abnormalities were observed in 75 patients (93%). Twenty-three patients (28%) had findings suggestive of congestive gastropathy: petechiae, focal and diffuse intense erythema, with or without erosions, edematous mucosa with a fine white reticulated or mosaic pattern, and cherry red spots resembling vascular malformations. Congestive gastropathy was the second most common abnormality identified after esophageal varices (66 patients, 81%). Other abnormalities included gastric varices in 13 patients (16%), esophagitis in seven (9%), gastric ulcers in six (7%), duodenal ulcer in 11 (14%), postsclerotherapy esophageal ulceration in 10 (12%), and a postsclerotherapy symptomatic esophageal stricture in one. The prevalence of congestive gastropathy has provided a stimulus for our prospective evaluation of gastric mucosal disease before and after liver transplantation or portosystemic shunt.

Predictors of variceal bleeding: an analysis of clinical, endoscopic, and haemodynamic variables, with special reference to intravariceal pressure.

To assist in the prediction of variceal bleeding we examined 12 clinical, endoscopic and haemodynamic variables in 126 patients with portal hypertension (72 bleeders and 54 non-bleeders). Multiple regression and discriminant analysis were utilised for 101 patients. Stepwise regression among the 12 variables explained only 54% of the variability existing between bleeders and non-bleeders. Six of the 12 variables accounted for 51% of the total bleeder/non-bleeder variability. A predicting equation was evolved [Yp = -0.60 + 0.19 X1 (colour of varices) + 0.16 X2 (cherry red spots) + 0.03 X3 (red wale, markings) + 0.01 X4 (haematocystic spots) + 0.15 X5 (Conn's grading of variceal size) + 0.03 X6 (intravariceal pressure)]. Of the six variables used, variceal size indicated 35%, and intravariceal pressure accounted for 12%, of the explained variability between bleeders and non-bleeders. The presence of the three red colour signs and the colour of the varices accounted for only 3% and 1% respectively of the total explained variation. Using the discriminant function analysis, we were able to correctly identify 85% of the bleeders and 81% of the non-bleeders. Additional studies are required to detect the variables responsible for the unexplained variability (46%) between bleeders and non-bleeders.

Appraisal of distal splenorenal shunt in the treatment of esophageal varices: an analysis of prophylactic, emergency, and elective shunts.

From June, 1969 to February, 1987, distal splenorenal shunt was carried out on 78 patients with esophagogastric varices. The operations were urgent in 9, elective in 40, and prophylactic in 29 patients. There were 52 males and 26 females. Age ranged from 16 to 76 years with an average of 53 years. Thirty-seven patients were alcoholics. Hepatitis B surface antigen was positive in only 15.5%. The causes of portal hypertension were cirrhosis of the liver in 67, chronic hepatitis in 5, idiopathic portal hypertension in 4, primary biliary cirrhosis in 1, and fatty liver in 1 patient. Fifty-two patients were in Child's class A, 18 in class B, and 8 in class C. Emergency shunts were performed only when conservative therapy had failed to stop variceal bleeding. Prophylactic operations were done in patients having Child's class A or class B liver disease and risky varices, in varices larger than 5 mm in diameter and/or varices with red color signs such as cherry red spots. Forty-two patients underwent the original Warren shunt, but the remaining 36 had modified distal splenorenal shunt with expanded polytetrafluoroethylene interposition. The operative mortality rates were 11.1% in the emergency group, 2.5% in the elective group, and 3.4% in the prophylactic group. The overall operative and hospital death rates were 3.8% and 7.7%, respectively. The patency rate was 94.1% and the incidence of rebleeding from esophageal varices was 3.8%. Hepatic encephalopathy, although mild to moderate in degree, was observed in 14.7% of 75 patients excluding 3 operative deaths.(ABSTRACT TRUNCATED AT 250 WORDS)

A case of GM1gangliosidosis type I

A six-month-old female gypsy child, the daughter of second degree cousins, born after a full-term pregnancy and normal delivery, is described. There was generalized neonatal edema. Abnormalities included psychomotor retardation from birth and progressive appearance of facial dysmorphism, organ enlargement, axial hypotonia, hypertonia in limbs, myoclonic jerks, optic atrophy and bilateral cherry-red spots. The diagnosis of GM1 type 1 gangliosidosis was confirmed by biochemical, enzymatic and ultrastructural findings.

The ocular ischemic syndrome. Clinical, fluorescein angiographic and carotid angiographic features.

The records of 43 consecutive patients (51 eyes) with the ocular ischemic syndrome (ocular symptoms and signs attributable to severe carotid artery obstruction) were studied in a retrospective fashion. Men comprised 67% of the group and the mean age at presentation was 64.5 years. In the anterior segment, neovascularization of the iris was observed in 66% of eyes and iritis was noted in 18%. Posterior segment signs included narrowed retinal arteries and dilated, but not tortuous, retinal veins. Mid-peripheral retinal hemorrhages were seen in 80% of eyes, posterior segment neovascularization was observed in 37%, and a cherry red spot was noted in 12%. Fluorescein angiography commonly revealed delayed choroidal and retinal filling, while electroretinography generally demonstrated a reduction in the amplitude of both the a- and b-waves.

A Case of Galactosialidosis Discovered with External Strabismus and Cherry Red Spots in Late Infancy

A Case of Galactosialidosis Discovered with External Strabismus and Cherry Red Spots in Late Infancy

Tay-Sachs disease: B 1 variant

This first child of non-Jewish parents had nystagmus at 4 months of age, bilateral cherry-red macular spots at 7 months of age, and hyperacusis at 8 months of age; the patient has deteriorated progressively following a clinical course typical of Tay-Sachs disease B variant. Total β- N-acetylhexosaminidase assayed with 4-methylumbelliferyl-β-glucosamine (4 MU GlcNAc) as substrate was within the normal range in plasma and cultured dermal fibroblasts and 2 3 the normal mean in leukocytes. The hexosaminidase A activity, assayed with the same substrate in plasma and cultured fibroblasts, approximated Tay-Sachs disease heterozygote levels; however, the activity of hexosaminidase A assayed with 4 MU Glc NAc-6-sulfate in the plasma, leukocytes, and cultured fibroblasts was < 8, 2, and 1%, respectively of the control mean. This female infant with the B 1 variant of Tay-Sachs disease demonstrated an earlier onset and more rapidly progressive course than was observed in 4 of the 5 previously reported patients with this Tay-Sachs disease variant.

Cherry red spot in association with galactosylceramide‐β‐galactosidase deficiency

Cherry red spot in association with galactosylceramide‐β‐galactosidase deficiency

Reliability of endoscopy in the assessment of variceal features: The Italian Liver Cirrhosis Project

In order to evaluate the reliability of the endoscopic assessment of variceal features, 6 skilled endoscopists separately examined 28 patients with liver cirrhosis and varices. Definitions of variceal features were set up on the basis of the classification of the Japanese Research Society for Portal Hypertension. A new item, i.e. oesophageal lumen occupancy, and a semiquantitative rating system of endoscopic findings were introduced. Beyond chance agreement (Kappa index) was poor on the assessment of the extension of blue colour (0.33) and prevalence of cherry red spots or red weal marking (0.17) whereas was fair to good (0.40-0.66; P less than 10(-5)) on the following: location, size, lumen occupancy, presence of blue colour, presence and extension of red colour sign, haematocystic spot. We conclude that the endoscopic assessment of oesophageal varices based on these features is reliable; their prognostic value as predictors of bleeding risk should be prospectively assessed.