Rare Diseases Symptoms Automatic Extraction

Erdheim-Chester disease with isolated craniocerebral involvement.

[erdheim-chester disease]

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis with distinctive radiographic and pathological features. Intracranial involvement is further a rarity, usually producing diabetes insipidus or cerebellar-brainstem symptoms. We report a 40-year-old man presenting with recurrent secondarily generalised seizures. An MRI scan of the brain revealed multiple enhancing intracranial masses in frontal, temporal and parietal regions. Biopsy from the left frontotemporal lesion confirmed it to be a rare case of ECD. The patient received a short course of corticosteroids initially and subsequently remained well-controlled on antiepileptic therapy alone. A repeat MRI of his brain showed significant resolution of lesions. Osteolytic lesions in the skull vault were detected during follow-up which also disappeared. Interestingly, there was no involvement of long bones or any other system even after 12 years of follow-up.

Diseases presenting "seizures" symptom

  • alexander disease
  • alpha-thalassemia
  • cadasil
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • erdheim-chester disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oligodontia
  • phenylketonuria
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • sneddon syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated