title: Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: a case report.
abstract: We describe a case of a 15-month-old female child admitted to our hospital because of fever, rash, neurological signs (oscillation between states of irritability and drowsiness), palpebral edema and drooping eyelid, appeared 10 days after the vaccination for measles, mumps and rubella. Brain MRI images showed multiple bilateral hyperintense lesions in the white matter typical of acute disseminated encephalomyelitis (ADEM), an autoimmune demyelinating disorder with inflammatory lesions of the central nervous system, due to viral antigens or vaccines. In the mean time, because of patient's vague phenotypic manifestations, suggestive of a genetic defect, array comparative genomic hybridization was carried out which showed the presence of a microdeletion 22q11.21, linked to the DiGeorge syndrome. Our case suggests that pediatric cases of post-vaccination ADEM, in which neurological signs persist, should be investigated for genetic phenotypical features, in order to exclude the presence of a genetic syndrome or disease.
authors.affiliation: Department of Pediatrics, University of Messina, Messina, Italy.
authors.forename: Mariella
authors.initials: M
authors.lastname: Valenzise
authors.affiliation: Department of Human Pathology, University of Messina, Messina, Italy. Electronic address: acascio@unime.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Cascio
authors.affiliation: Department of Pediatrics, University of Messina, Messina, Italy.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Wasniewska
authors.affiliation: Department of Pediatrics, University of Messina, Messina, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Zirilli
authors.affiliation: Department of Pediatrics, University of Messina, Messina, Italy.
authors.forename: Maria Ausilia
authors.initials: MA
authors.lastname: Catena
authors.affiliation: Department of Pediatrics, University of Messina, Messina, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Arasi
mesh_terms: D001921:Brain / Q000473:pathology; D002892:Chromosomes, Human, Pair 22; D055028:Comparative Genomic Hybridization; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D004673:Encephalomyelitis, Acute Disseminated / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D022542:Measles-Mumps-Rubella Vaccine / Q000009:adverse effects; D014611:Vaccination / Q000009:adverse effects*
chemical_list: D022542:Measles-Mumps-Rubella Vaccine
keywords: ADEM; Acute disseminated encephalomyelitis; DiGeorge syndrome