Literature DB >> 2596499

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

M B Krawinkel1, M Ernst, A Feller, H D Flad, H K Mueller-Hermelink, A J Ulmer, J Schaub.   

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.

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Year:  1989        PMID: 2596499     DOI: 10.1002/ajmg.1320330403

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?

Authors:  Mohammad S Ehlayel; Tawfeg Ben-Omran; Venkatraman Bhat; Ahmad S Teebi
Journal:  J Neurol       Date:  2009-09-19       Impact factor: 4.849

2.  Neuropathology of lissencephalies.

Authors:  K Kuchelmeister; M Bergmann; F Gullotta
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

3.  Magnetic resonance imaging in lissencephaly.

Authors:  M Krawinkel; H J Steen; B Terwey
Journal:  Eur J Pediatr       Date:  1987-03       Impact factor: 3.183

  3 in total

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