Rare Diseases Symptoms Automatic Extraction

Erdheim-Chester disease associated with intramedullary spinal cord lesion.

[erdheim-chester disease]

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. We present a case of a 56-year-old male with ECD. As time progressed, involvement of the orbital fossa, cranial convexity, spinal cord, brain stem, thyroid, lung, retroperitoneum, lower extremity bones and skin were found. Previously reported cases reveal the frequency of ECD with spinal cord involvement is rare. Although this was a presumed diagnosis based on other lesions, our case is the first in which both intramedullary and epidural masses are present.

Diseases presenting "brain stem" symptom

  • alexander disease
  • canavan disease
  • cohen syndrome
  • erdheim-chester disease
  • gm1 gangliosidosis
  • von hippel-lindau disease

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