title: Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification.
abstract: Congenital microcephaly with intracranial calcification is a rare condition presented in heterogeneous diseases. Here, we report the case of a 1-year-old boy with severe congenital microcephaly and diffuse calcification. Neuroimaging studies showed a diffuse simplified gyral pattern; a very thin cortex; ventricular dilatation; very small basal ganglia, thalamus, and brainstem; and cerebellar hypoplasia with diffuse calcification. Clinical features of intrauterine infections, such as neonatal jaundice, hepatomegaly, and thrombocytopenia, were not found. Serological tests, cultures, and polymerase chain reaction analysis were negative for viral infections. The etiology of pseudo-toxoplasmosis, rubella, cytomegalovirus, and herpes simplex syndrome is still unknown. This study describes the most severe form of pseudo-toxoplasmosis, rubella, cytomegalovirus, and herpes simplex syndrome reported to date, with the patient showing microcephaly and calcification or band-like intracranial calcification with simplified gyration and polymirogyria.
authors.affiliation: Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan. kazun-yamagata@umin.ac.jp
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Nakamura
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Ayako
authors.initials: A
authors.lastname: Sasaki
authors.forename: Masayo
authors.initials: M
authors.lastname: Kanai
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D001927:Brain Diseases / Q000151:congenital* / Q000473:pathology; D001933:Brain Stem / Q000002:abnormalities* / Q000473:pathology; D002114:Calcinosis / Q000151:congenital* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology