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Updated: Jun 8, 2026

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Published on: May 31, 2016
Congenital infection-like syndrome with intracranial calcification
Yoko Mizuno1, Kan Takahashi, Takashi Igarashi
1Department of Pediatrics, Graduate School of Medicine, the University of Tokyo.
Abstract:
Congenital infection-like syndrome includes multiple disorders. Although novel syndromes have recently been described and their genetic defects identified, many cases remain unclassified. Here we report a patient with neuroradiologic findings of intracranial calcification and cerebellar hypoplasia, and clinical features of growth retardation, progressive pancytopenia, interstitial pneumonia, and immune abnormality. Our patient had a phenotypic overlap with Aicardi-Goutières syndrome and Hoyeraal-Hreidarsson syndrome, despite the absence of mutation in their responsible genes.
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