Rare Diseases Symptoms Automatic Extraction

Clinical features and long-term follow-up of quasi-moyamoya disease in children.

[proteus syndrome]

Inherited or acquired disorders and conditions may present in conjunction with moyamoya disease. This condition is known as quasi-moyamoya disease.A retrospective review of 69 moyamoya disease patients treated for the past 20 years identified 7 patients with quasi-moyamoya disease and 5 of them were pediatric patients.The mean age at initial diagnosis was 6.4 years (range 5-9). Associated disorders were: craniosynostosis, dwarfism with coarctation of aorta, Proteus syndrome, and cranial irradiation for brain tumor. Their clinical type included cerebral ischemia in 3 patients, cerebral bleeding with ischemia in 1 and epilepsy in 1. The 3 patients with cerebral ischemia underwent bypass surgery and their ischemia was improved. One patient died of brain tumor recurrence and the activities of daily living in the remaining patients were affected by mental retardation.The clinical course and radiological finding of quasi-moyamoya disease are diverse because of associated disorders, distinguishing definite moyamoya disease.

Diseases presenting "epilepsy" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • canavan disease
  • classical phenylketonuria
  • cohen syndrome
  • cowden syndrome
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • phenylketonuria
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated