Document Detail

Pena-shokeir type I syndrome with thymic and systemic lymphoid hyperplasia: report of an autopsy case.
MedLine Citation:
PMID:  11070126     Owner:  NLM     Status:  MEDLINE    
We report a case of Pena-Shokeir type I syndrome in a female neonate who died of respiratory failure shortly after the birth at 32 weeks of gestation. In general appearance, she had apparent ocural hypertelorism, a depressed tip of the nose, low-set malformed ears, and microglossia in the head. There were severe contractures at the ankle, hand, fingers, and toes, and moderate contractures at the hip, shoulder, knee, and elbow. An autopsy analysis showed severe pulmonary hypoplasia and group atrophy of the skeletal muscle tissues. In addition to these findings which are well known characteristics of the infant with this syndrome, the thymus was markedly hyperplastic and lymph nodes were systemically swollen, especially the mesenteric ones which were visible and measured 2-5 mm in diameter. Histologically, the lymph nodes showed massive paracortical hyperplasia without apparent follicular structures, although no atypical lymphocytes were observed in both the thymus and lymph nodes. Immunohistochemically, proliferating lymphocytes seemed to be immature CD4+/CD8+ T cells, suggesting the insufficiency of T-cell negative selection in the thymus. This report is the first case of Pena-Shokeir type I syndrome with T-lymphocytic disorder.
H Itoh; Y Chuganji; Y Kodama; T Seguchi; H Kataoka; T Ikenoue; M Koono
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human pathology     Volume:  31     ISSN:  0046-8177     ISO Abbreviation:  Hum. Pathol.     Publication Date:  2000 Oct 
Date Detail:
Created Date:  2000-12-05     Completed Date:  2000-12-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9421547     Medline TA:  Hum Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1321-4     Citation Subset:  IM    
Second Department of Pathology, Miyazaki Medical College, Miyazaki, Japan.
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MeSH Terms
Abnormalities, Multiple / pathology*
Contracture / pathology
Fatal Outcome
Gestational Age
Hypertelorism / pathology
Infant, Newborn

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