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Lissencephaly, abnormal lymph nodes, and T-cell deficiency in one patient.

作者信息

Krawinkel M B, Ernst M, Feller A, Flad H D, Mueller-Hermelink H K, Ulmer A J, Schaub J

机构信息

Department of Pediatrics, University of Kiel, Federal Republic of Germany.

出版信息

Am J Med Genet. 1989 Aug;33(4):436-43. doi: 10.1002/ajmg.1320330403.

DOI:10.1002/ajmg.1320330403
PMID:2596499
Abstract

We report on a child with lissencephaly type I, abnormal lymph nodes, and immunodeficiency, associated with recurrent infections, autoimmune disease, spastic tetraplegia, and psychomotor retardation. Diagnostic measures included cranial computer tomography (CT) and magnetic resonance imaging (MRI) scanning, several in vivo and in vitro immunological tests, and histology of skin, lymph nodes, and liver including electron microscopy and immunohistology. Despite medical supervision, the child died at age 4 years. A common pathogenetic mechanism of defective migration of neurons and the dysmaturation of lymph nodes is most probable. The T-cell deficiency may represent a common defect of the development of both neuronal and lymphatic tissue, as the six-layered cerebral cortex and the B-cell areas in lymph nodes develop at about the same gestational age. A common defect could also be assumed involving genetically determined cell surface proteins.

摘要

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Neuropathology of lissencephalies.无脑回畸形的神经病理学
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Magnetic resonance imaging in lissencephaly.
Eur J Pediatr. 1987 Mar;146(2):205-8. doi: 10.1007/BF02343238.