Синдром ішемія сітківки-гіаліноз дрібних судин травного тракту-дифузні церебральні кальцифікати
ORPHA:3018· ICD-10 E78.8· Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Визначення(English summary)
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Unknown
- Вік початку
- Infancy, Neonatal