Two Autopsy Cases （Siblings） of Congential Thymic Abnormality (DiaGeorgeSyndrome)

同胞に認められた先天性胸腺異常の2剖検例（DiGeorge症候群）

Two Autopsy Cases （Siblings） of Congential Thymic Abnormality (DiaGeorgeSyndrome)

Creators Urago Atsushi

Creators Funakoshi Keisuke

Creators Rhee Jaein

Creators Satou Ryoichi

Creators 古庄 巻史

Creators 高橋 学

Creators 末森 多賀生

Two siblings (2-year-9-month-old famele, 11-month-old male) showed similar clinical course. Following normal gestations and births, the infants first noticed feeding difficulty. After admission, muscular rigidity and tremor, blindness, deafness, severe dwarfism, lack of mental development, and infection repeating syndrome were observed. The immunoglobulin levels were almost normal. At autopsy, the thymus of sister was hypoplastic and that of brother was aplastic, accompanied by parathyroid and thyroid dysplasia in both cases. Histologically, the thymus-dependent areas of lymphoid tissues were hypoplastic and composed of large or medium-sized lymphocytes, reticulum cells…

[ISSN]0513-1731

[NCID]AN00243156