Rare Diseases Symptoms Automatic Extraction

Hemorrhagic intramedullary hemangioblastoma of the cervical spinal cord presenting with acute-onset quadriparesis: Case report and review of the literature.

[von hippel-lindau disease]

Context Hemangioblastomas of the spinal cord are uncommon vascular tumors. Patients commonly present with subtle neurologic findings that are thought to represent growth of the lesion over time. Hemorrhage of an intramedullary hemangioblastoma presenting as acute neurologic deficit is an extremely rare occurrence. Although the cervical spine is the most common location for hemangioblastoma of the spinal cord, there have been no previously published cases in the literature of intramedullary hemorrhage from such a lesion. Findings A 22-year-old woman with a previously undiagnosed spinal cord hemangioblastoma presented with sudden-onset dense quadriparesis due to intramedullary hemorrhage in the cervical spinal cord. The patient did not have any clinical findings of von-Hippel Lindau disease. Laminoplasty from C5 to T2 and posterior midline myelotomy for resection of the intramedullary tumor with hematoma evacuation were completed without complication. Conclusion Intramedullary hemangioblastoma of the spinal cord is uncommon, and hemorrhage from a cervical spinal cord lesion has not previously been reported. Symptoms from these usually indolent lesions are commonly associated with tumor growth, edema, or associated syrinx, whereas devastating acute neurologic deficit from hemorrhage is exceedingly rare. Microsurgical resection should be done in cases of symptomatic lesions and considered in isolated symptomatic lesions without the known diagnosis of von Hippel-Lindau disease.

Diseases presenting "edema" symptom

  • acute rheumatic fever
  • adrenomyeloneuropathy
  • aniridia
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • coats disease
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • harlequin ichthyosis
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • pleomorphic liposarcoma
  • systemic capillary leak syndrome
  • trochlear dysplasia
  • von hippel-lindau disease
  • waldenström macroglobulinemia

This symptom has already been validated