title: A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?
abstract: A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?: We present a nine-month-old boy with microcephaly, cataracts, intracerebral calcification, dysmorphic facial signs, and a clinical course resembling a congenital intrauterine infection. The serological screening for connatal infections repeatedly was negative. Patients with congenital infection-like syndrome previously described showed similar clinical features. The recurrence of the disease in sibships suggests autosomal recessive inheritance. We add a possibly new patient with this condition, review the literature, and demonstrate the difficulties in making the diagnosis of an infection-like syndrome in a single patient.
authors.affiliation: Institut für Humangenetik, Universitäts-klinikum Essen.
authors.forename: D
authors.initials: D
authors.lastname: Wieczorek
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: E
authors.initials: E
authors.lastname: Passarge
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001927:Brain Diseases / Q000151:congenital* / Q000235:genetics; D002114:Calcinosis / Q000151:congenital* / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007239:Infections / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities