title: [Infantile DiGeorge syndrome: autopsy diagnosis and clinicopathologic analysis in 5 cases].
abstract: OBJECTIVE
  To investigate clinicopathological features of DiGeorge syndrome (DGS).
  
  
  METHODS
  The clinical features, histological and immunohistochemical findings were analyzed in 5 cases of DGS by autopsy.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pathology, Southern Medical University, Guangzhou, China.
authors.forename: Yong-jian
authors.initials: YJ
authors.lastname: Deng
authors.forename: Dong-fang
authors.initials: DF
authors.lastname: Qiao
authors.forename: Na
authors.initials: N
authors.lastname: Tang
authors.forename: Liang
authors.initials: L
authors.lastname: Zhao
authors.forename: Juan-zhi
authors.initials: JZ
authors.lastname: Chen
authors.forename: Yan-qing
authors.initials: YQ
authors.lastname: Ding
mesh_terms: D001344:Autopsy; D004062:DiGeorge Syndrome / Q000276:immunology / Q000473:pathology* / Q000821:virology; D006525:Hepatitis, Viral, Human / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D018655:Lymphocyte Count; D008297:Male; D010280:Parathyroid Glands / Q000473:pathology*; D011024:Pneumonia, Viral / Q000473:pathology; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology*; D013950:Thymus Gland / Q000473:pathology*