Dados do Trabalho

Título

Microcephaly in the Era of Zika: Is It Pathognomonic? Report of 2 Cases

Apresentação dos casos

Male patient, first born of non-consanguineous parents, with a normal pregnancy, born preterm by eutocic delivery in 2015, with a head circumference (HC) of 28 cm. Neonatal screenings and serologies were normal. Neuroimaging (2015): microcephaly and discrete cortical sulcus accentuation. Diagnosed with congenital Zika virus (ZIKV) syndrome despite a negative PCR in 2016. The patient has shown intellectual disability (ID), severe behavioral and language disorders, and is taking risperidone 1.5 mg/day. A sibling born at term in 2021, by vaginal delivery, had an HC of 26.5 cm. Neuroimaging (2021): microcephaly, diffuse thinning of the cerebral parenchyma, and prominent cortical sulci. Serologies for toxoplasmosis, rubella, CMV, Herpes I and II, and ZIKV were positive for IgG, with a non-reactive VDRL. The sibling exhibited developmental delays (in language, cognitive, and motor skills), agitation, and aggression. In 2023, an exome sequencing of the elder sibling revealed a pathogenic homozygous variant in the ASPM gene (c.9697C>T). The first cases of microcephaly associated with congenital ZIKV infection were reported in 2015. This report aims to describe two cases of microcephaly during an epidemic and the differential diagnoses of microcephaly due to ZIKV.

Discussão

Congenital ZIKV infection can lead to fetal death and malformations, primarily microcephaly. Numerous cases were early attributed to the infectious syndrome, characterized by microcephaly, cranial imaging showing agyria and pachygyria, diffuse involvement with different degrees of severity, increased extra-axial cerebrospinal fluid space, and subcortical calcifications at the cortico-subcortical transition, along with ophthalmological findings, epilepsy, arthrogryposis, low birth weight, and auditory changes. ASPM primary microcephaly is characterized by significant isolated microcephaly (>3 standard deviations below the mean for age and sex), generally present at birth and mandatory up to 1 year of age, in the absence of other congenital abnormalities. In most cases, early development is normal, progressing to ID of various levels. The condition is inherited in an autosomal recessive manner, diagnosed by molecular genetic testing with pathogenic variants in the ASPM gene.

Comentários finais

When diagnosing microcephaly, genetic etiologies shouldbe considered and infeccious causes, for appropriate therapeutic management and family counseling. The management of microcephalyinvolves addressing comorbidities and rehabilitation.

Referências

1) ASPM primary microcefalia , 2020. Gene Reviews. ( Disponivel em : (‘https://www.ncbi.nlm.nih.gov/books/NBK555474)
2) Zika virus and Microcefaly, 2016. New England Jour al of Medicine. (Disponível em: https://www.nejm.org/doi/10.1056/NEJMe1601862?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200www.ncbi.nlm.nih.gov)

Palavras Chave

Microcefalia; ASPM; Zika virus