Rare Diseases Symptoms Automatic Extraction

Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.

[cystinuria]

In this report, an 8-year-old girl is presented with the complaint of progressive night blindness. The authors have performed eye funduscopy, which showed chorioretinal atrophy in gyrate shape. A high level of plasma ornithine was determined. Urinary excretion of ornithine as well as lysine and cystine were increased. Patient was treated with high dose pyridoxine supplement (500 mg/dl). The night blindness condition of the patient improved. After 1 month of pyridoxine therapy ornithine level of her plasma was successfully reduced and blindness improved.

Diseases presenting "high level" symptom

  • 22q11.2 deletion syndrome
  • aniridia
  • cadasil
  • carcinoma of the gallbladder
  • cohen syndrome
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • hodgkin lymphoma, classical
  • inclusion body myositis
  • liposarcoma
  • lymphangioleiomyomatosis
  • omenn syndrome
  • oral submucous fibrosis
  • pyomyositis
  • scrub typhus
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy

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