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Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker–Warburg syndrome
Author(s) -
Ulfig Norbert,
Steinbrecher Alice,
StoltenburgDidinger Gisela,
Rezaie Payam
Publication year - 2008
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2007.00856.x
Subject(s) - cerebellar hypoplasia (non human) , peripheral blood mononuclear cell , cerebellum , lissencephaly , pathology , hypoplasia , muscular dystrophy , differential diagnosis , medicine , neuroscience , biology , genetics , gene , in vitro
Walker–Warburg syndrome (WWS) is an autosomal recessive disorder with alterations affecting the CNS that are characteristic of type‐II lissencephaly and dysplasia/hypoplasia of the cerebellum. Other than these features, WWS is typically also accompanied by muscular dystrophy and abnormalities affecting the eyes. There is at present little information on the state of microglial and mononuclear phagocytic cell responses within the brain in WWS. In this case report, we present evidence for focal and differential activation of mononuclear phagocytes specifically confined to the dysplastic cerebellum of an infant at 5 months of age, diagnosed with WWS.