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

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…