Infantile DiGeorge syndrome: autopsy diagnosis and clinicopathologic analysis in 5 cases / 中华病理学杂志
Chinese Journal of Pathology
;
(12): 742-746, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-256302
ABSTRACT
<p><b>OBJECTIVE</b>To investigate clinicopathological features of DiGeorge syndrome (DGS).</p><p><b>METHOD</b>The clinical features, histological and immunohistochemical findings were analyzed in 5 cases of DGS by autopsy.</p><p><b>RESULTS</b>Five cases of DGS in male infants aged 4 days, 1 month, 7 months, 10 months, and 13 months respectively. Gross and microscopic observations revealed that thymic cortex was depleted of lymphocytes or showed few, dispersed lymphocytes. The thymic medulla showed predominantly epithelial cells with calcified Hassall bodies as well as lymphocyte depletion. T lymphocytes were also scarce in the tonsils, lymph nodes, spleen, and mucosa-associated lymphatic tissue of ileum. In addition, 3 of the 5 patients also showed parathyroid aplasia or dysplasia, and congenital hypertrophy of the ventricular septum.</p><p><b>CONCLUSIONS</b>The pathological changes indicate that clinicians should be aware of defects of immune system if the infants suffer from severe infections. Pathologists should recognize the importance of abnormalities of lymphohematopoietic tissues in the diagnosis of primary immunodeficiency diseases such as DGS.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parathyroid Glands
/
Pathology
/
Pneumonia, Viral
/
Autopsy
/
Thymus Gland
/
Virology
/
T-Lymphocytes
/
Hypertrophy, Left Ventricular
/
Lymphocyte Count
/
DiGeorge Syndrome
Limits:
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Pathology
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS