Rare Diseases Symptoms Automatic Extraction

The clinical experience of recurrent central nervous system hemangioblastomas.

[von hippel-lindau disease]

Hemangioblastomas (HBLs) of the central nervous system are benign vascular tumors that may occur sporadically or in von Hippel-Lindau disease (VHLD). We analyzed the clinical and radiological findings of HBLs focusing on recurrence.From 1998 to 2012, 36 patients with HBLs were treated. Twenty nine patients (80.6%, mean age 46.7 years) had sporadic HBLs and seven (19.4%, mean age 39 years) had HBLs associated with VHLD. Initially, the mass was totally removed in 32 patients, subtotally in one and partially in one, and gamma knife radiosurgery was done in two patients. The mean duration of follow-up was 48.4 months. We retrospectively analyzed the clinical and radiologic findings.The location of cerebellum and brainstem was common. The HBLs of spinal cord and cerebral hemisphere were related with VHLD. The common radiologic findings of sporadic HBLs showed a cyst with a mural nodule in 15 patients (51.7%) and pure solid lesion in eight (27.6%). In HBLs related with VHLD, five of seven patients had multiple lesions and pure solid mass was common. Three (10.3%) and two (28.6%) patients showed recurrence in sporadic and VHLD-related HBLs, respectively. Two totally resected mural nodules on the cyst showed recurrence with similar radiologic findings 3 years later in sporadic HBLs. In recurred HBLs related with VHLD, one pure solid mass and one mural nodule on cyst showed the local recurrences after the total resection 8 years later and associated with distant recurrence.All patients should be more specifically followed to detect local and distant recurrence, even if the clinical course was benign and mass was totally removed.

Diseases presenting "central nervous system" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • aniridia
  • aromatase deficiency
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • fabry disease
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • proteus syndrome
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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