Metachromatic Leukodystrophy and Coincidental Finding of Papillomatosis of the Gallbladder. A Case Report

Fock, Johanna M.; Begeer, J.H.; Prins, TR

doi:10.1055/s-2007-979721

Cited by 8 publications

(3 citation statements)

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“…Proximal renal tubular acidosis has been described [ 250 ], with subclinical metabolic acidosis at baseline, worsening to a clinically significant acidosis in the acute setting [ 251 ]. Sulfatides are known to irritate the gallbladder mucosa, potentially leading to gallbladder papillomatosis [ 252, 253 ] and hemobilia [ 254–256 ]. A major determinant of the clinical phenotype is the residual enzyme activity that is associated with a particular genotype.…”

Section: Lysosomal Storage Diseases Due To Enzyme Defectsmentioning

confidence: 99%

Lysosomal storage diseases

Ferreira

Gahl

2017

TRD

193

221

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Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively.

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Section: Lysosomal Storage Diseases Due To Enzyme Defectsmentioning

confidence: 99%

Lysosomal storage diseases

Ferreira

Gahl

2017

TRD

193

221

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“…The prevalence of gallbladder polyps in children is considered extremely rare, but the exact frequency is unknown. To our knowledge, there have been less than 40 case reports of gallbladder polyps in pediatric patients and each of these reports involved from 1 to 4 patients [2-10] Four have been described in patients with Peutz-Jeghers syndrome [11,12], 6 children had metachromatic leukodystrophy [4,[13][14][15][16], 2 had a gallbladder papilloma [16,17], and 2 were hyperplastic polyps [9,10]. In the only prospective study, Stringer et al [2] described 2 children with gallbladder polyps.…”

Section: Discussionmentioning

confidence: 99%

The natural history and significance of ultrasonographically defined polypoid lesions of the gallbladder in children

Beck¹,

Shaffer²,

Gall³

et al. 2007

Journal of Pediatric Surgery

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“…Typisch für echte Adenome ist die farbduplexsonographische Darstellung von Gefäßen in der Polypenbasis (diese konnte bei zehn konsekutiven Patienten mit operativer Sicherung beobachtet werden). Entzündlich-granulomatöse Polypen und das Gallenblasenpapillom sind selten [75][76][77][78][79] [90]. Eine Choledocholithiasis ohne nachweisbare Gallenblasensteine ist in unseren Regionen seltener.…”

Section: Polypen Und Gallenblasenkarzinomunclassified

Aktueller Stand der Sonographie in der Gastroenterologie

Nuernberg¹,

Ignee

Dietrich

2007

Med Klin

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GALLBLADDER: Ultrasound has become widely accepted for the diagnosis of gallbladder disease. Sensitivity for cholecystolithiasis is approximately 100%. Cholezystitis including its acute and chronic complications is also a domain of ultrasound techniques. An obstruction of the bile ducts and its localization are easily recognized. Clarifying the etiology is yet another question far more difficult to answer. Ultrasound contrast agents have proven to be useful for clarification of biliary tumors. Gallbladder polyps are well detectable. Adenomas of > 1 cm are an indication for surgery, the detection of a vessel at the polyps' base by color duplex ultrasound is helpful. Gallbladder carcinomas as a disease of the older age with few early symptoms are usually detected at a late stage when the liver is already infiltrated. BILE DUCT SYSTEM: Even with the most modern equipment the sensitivity for choledocholithiasis is still largely dependent on the examiner's expertise und differs between 25% and 100%. Endosonography is more efficient (94-100%). Primary sclerosing cholangitis shows bile duct dilation like "a string of pearls" and typical perihepatic lymph node enlargement. Differentiation from early cholangiocarcinoma is difficult. PANCREAS: In diagnostic imaging of the pancreas ultrasound stands at the beginning of a diagnostic cascade. In contrast to other competing examinations it can be repeated at any time and without X-ray exposure. The informative value, though, is largely dependent on the examiner's expertise. Usually, a CT scan is additionally performed when ultrasound examination is incomplete or limited through examination condition or if doubts on diagnostic accuracy arise. In cases of acute pancreatitis, especially the assessment and follow-up of complications (exudation, necrosis, pseudocysts, vascular complications, and obstructive effects) are precious. Ductal adenocarcinoma seems to be less vascularized in comparison to the surrounding tissue, while endocrine tumors and macro- and microcystic adenoma are rather hypervascularized.

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Metachromatic Leukodystrophy and Coincidental Finding of Papillomatosis of the Gallbladder. A Case Report

Cited by 8 publications

References 0 publications

Lysosomal storage diseases

Lysosomal storage diseases

The natural history and significance of ultrasonographically defined polypoid lesions of the gallbladder in children

Aktueller Stand der Sonographie in der Gastroenterologie

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