1/13. Sulfatide cholecystosis.Polypoid masses metachromatic sulfatides have been found at autopsy in the gallbladder of patients with metachromatic leucodystrophy. In a 10-year-old girl with this disease oral cholecystrography demonstrated a filling defect, which was felt to represent a polyp. In the proper clinical setting, sulfatide cholecystosis should be considered in the differential diagnosis of polypoid lesions of the gallbladder.- - - - - - - - - - ranking = 1keywords = gallbladder (Clic here for more details about this article) |
2/13. Hemorrhagic cholecystitis as a likely cause of nontraumatic hemobilia in metachromatic leukodystrophy: report of a case.A 17-years-old man with the juvenile form of MLD developed massive hemobilia. CT and US scans showed blood and clots filling the gallbladder and the biliary ways, with no bleeding source seen at selective angiography. Explorative laparotomy evidenced bleeding from a papillomatous gallbladder mucosa, resolved with cholecystectomy. Histologic examination with specific colorations diagnosed hemorrhagic cholecystitis from metachromatic leukodystrophy of the gallbladder. This is, to our knowing, the third case reported in literature, and thus hemorrhagic cholecystitis may be considered a life-threatening complication of MLD to be prevented with cholecystectomy as soon as signs of gallbladder pathology (papillomatosis/polyposis, jaundice, abdominal pain) are suspected.- - - - - - - - - - ranking = 2keywords = gallbladder (Clic here for more details about this article) |
3/13. adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state.In a 5-year follow-up of a case of adult metachromatic leukodystrophy, already diagnosed in the preclinical stage, the development of the symptoms of this disease could be studied in detail: initially, lack of drive, emotional lability and depressive mood. At the same time, pain in the arms and beginning gait disturbance. Later, impairment of memory and concentration, disorientation, inadequate behavior and progression of gait disturbance. Finally spastic atactic gait with small steps and dyspractic components, coordination disturbances with writing dysfunction, fast dysarthric speech, hyperkinetic activity, compulsory emotional outbursts and progressive dementia. Only minor neurological signs such as reflex abnormalities. In the EEG, slight slowing of frequencies compared to earlier tracings. Increasing diminution of nerve conduction velocity in the lower limbs. Only minor increase of CSF protein (51 mg%). In spite of normal vision, evoked visual potentials abnormal, response of optical and electrical blink reflexes delayed. Imperfect filling of gallbladder. No significant quantitative changes of the biochemical parameters compared with the findings made 5 years earlier (excretion of urinary sulfatides, diminished activity of arylfulfatase A in urine and leukocytes).- - - - - - - - - - ranking = 0.5keywords = gallbladder (Clic here for more details about this article) |
4/13. Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.In a child with enzymatically and histopathologically proven metachromatic leukodystrophy (MLD), the disease pursued a course typical of juvenile MLD characterized by neurological degeneration beginning at age 9 years and ending in death at age 18. A younger brother of the patient was found to have profound deficiency of arylsulfatase A in leukocytes and to excrete five- to 20-fold greater-than-normal amounts of sulfatide in the urine. He was completely free of symptoms attributable to MLD until age 16 when he developed acute cholecystitis caused by sulfatide accumulation in the gallbladder. Results of detailed neurological examination at age 21 years were normal; formal psychometric assessment showed a full-scale IQ of 105 (Wechsler). Studies on cultured skin fibroblasts from the brother showed defects in arylsulfatase A activity, measured with the use of synthetic and natural substrates, and in radiolabeled sulfatide turnover. cellulose acetate gel electrophoresis of fibroblast extracts from the patient showed no detectable arylsulfatase A isozyme under conditions that clearly distinguished pseudo-arylsulfatase A deficiency from classical MLD. Biochemically, the patient was indistinguishable from patients with classical MLD; on the other hand, his clinical course is dramatically more benign than that of his sister who was affected with severe MLD.- - - - - - - - - - ranking = 0.5keywords = gallbladder (Clic here for more details about this article) |
5/13. Papillomatous transformation of the gallbladder in metachromatic leukodystrophy.Papillomatous transformation of the gallbladder was found in a patient with metachromatic leukodystrophy who presented with an abdominal mass. cholecystectomy was performed, and involvement of the gallbladder was confirmed by metachromatic stains and electron microscopy.- - - - - - - - - - ranking = 3keywords = gallbladder (Clic here for more details about this article) |
6/13. Metachromatic leukodystrophy. Report of siblings with the juvenile type of metachromatic leukodystrophy.Two sisters with juvenile metachromatic leukodystrophy are described. The patients were 17 and 20 years old. The younger sister died and an autopsy was performed. The elder sister keeps alive. A sural nerve biopsy of both cases revealed an accumulation of metachromatic lipid granules in the schwann cells and macrophages. The autopsy also disclosed these granules especially in the brain, gallbladder, kidney and pancreas. A lipid analysis of the cerebral white matter showed sulfatide accumulation that was 1.5 times that of controls. Histochemically, the accumulated lipid was different in the brain from that in other organs. An electron microscopic examination of the accumulated metachromatic lipid granules showed various structures such as concentric lamellar, tuffstone, herringbone and hexagonal honeycomb appearances, and some ultrastructural differences between the nervous system and other organs.- - - - - - - - - - ranking = 0.5keywords = gallbladder (Clic here for more details about this article) |
7/13. Papillomatosis of the gallbladder associated with metachromatic leukodystrophy.A 9-year-old boy with metachromatic leukodystrophy (MLD) was found to have diffuse papillomatosis of the gallbladder that was virtually obliterating the lumen of the gallbladder. To our knowledge, two other examples of this lesion have been reported previously in MLD.- - - - - - - - - - ranking = 3keywords = gallbladder (Clic here for more details about this article) |
8/13. Villous papilloma of the gallbladder in association with leukodystrophy.A 2-year-old girl with metachromatic leukodystrophy had an unusual papilloma of the gallbladder. The association of metachromatic leukodystrophy and gallbladder disease in children is recognized. The striking anemone-like configuration of this tumor is remarkably unlike those of other papillomas described in the literature.- - - - - - - - - - ranking = 3keywords = gallbladder (Clic here for more details about this article) |
9/13. Metachromatic leukodystrophy and coincidental finding of papillomatosis of the gallbladder. A case report.In this case report we describe the coincidental finding of polyps in the gallbladder by ultrasound investigation in a six-year-old girl, known to have metachromatic leukodystrophy. The investigation was carried out because of suspicion of abdominal trauma after falling down the stairs and finding elevated serum amylase.- - - - - - - - - - ranking = 2.5keywords = gallbladder (Clic here for more details about this article) |
10/13. Polyposis of the gallbladder associated with metachromatic leukodystrophy.We report on two children with metachromatic leukodystrophy and polyposis of the gallbladder. In both patients ultrasound examination revealed a small gallbladder with a thickened echogenic wall and multiple polypoid masses. In one patient diagnosis of gallbladder polyposis was made 6 months before the first neurological symptoms occurred. As gallbladder polyposis is a rare phenomenon in childhood, metachromatic leukodystrophy should be excluded.- - - - - - - - - - ranking = 4keywords = gallbladder (Clic here for more details about this article) |
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