Cystinosis

Autor:

National Eye Institute

Credit:

[1]

Krótki link:

https://plwiki.pl/b/e983

źródło:

Wikimedia Commons

Wymiary:

672 x 556 Pixel (342228 Bytes)

Opis:

The patient was a 4 1/2-year-old male who looked about 2 1/2 years old at his first visit. He was admitted to the hospital because of poor growth and polydipsia. The patient was admitted to the hospital in uremia and coma. An examination of the cornea showed the surface and the immediate subepithelial region to be studded with golden-brown, fine scintillating particles, uniformly distributed throughout the entire cornea, but possibly sparing the most peripheral zone ([1]). The stroma appeared to be clear, but the posterior surface of the cornea showed the same type of particles in the lower nasal quadrant, although sparser than was the case on the surface. There were apparently also some crystals in the conjunctiva. The tentative diagnosis was cystinosis or Fanconi's syndrome, but unlike the other cases reported, the crystals appeared to be at the anterior and posterior surfaces and not in the stroma. The patient was seen again at age 8 years old, when he was back in the hospital. The cornea still contained crystals ([2]). The only noteworthy event in the recent history was a nosebleed of 20 hours duration. His non-protein nitrogen was 140 and he appeared very pale, but he was lively and alert. He had a persistent anemia and potassium depletion. Presumably both the anemia and the hemorrhagic diathesis were attributed to uremia. The patient died in the hospital. Noteworthy was the fact that his three siblings all showed clear corneas without crystals. However, the youngest was age three months and when she was examined again at age two years, she had abundant crystals and nephropathic cystinosis.

Licencja:

Public domain