Rare Diseases Symptoms Automatic Extraction

Decision for surgery in the management of a rare condition, childhood gallbladder polyps, and the role of ultrasonography.

[achondroplasia]

Gallbladder polyps are tumors or tumor-like protrusions of the gallbladder. They are rarely seen in the pediatric age. Most important issue about these mostly incidental lesions is the risk of malignant transformation. Size more than 10 mm is the classicalcutoff for determining this risk, but it is rarely valid in children. Ultrasonography is the method of choice for follow-up, but it rarely demonstrates change of size or malignant transformation. Hereby, we report 6 cases of childhood gallbladder polyps, none of which had a genetic risk factor. Follow-up was uneventful in 4 of them. Two patients had undergone surgery, but none of the lesions were neoplastic. In the follow-up, a single experienced radiologist should handle the patient, in order to prevent inter-observer variation. The cut-off size for deciding surgery should be 10 mm for those cases with genetic background creating malignancy risk (metachromatic leukodystrophy, pancreaticobiliary duct abnormalities, achondroplasia, Peutz-Jeghers syndrome) or with accompanying cholelithiasis, and 15 mm for those without any risk factors to prevent any unnecessary operations.

Diseases presenting "leukodystrophy" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • carcinoma of the gallbladder
  • classical phenylketonuria
  • coats disease
  • fabry disease
  • gm1 gangliosidosis
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated