J Pediatr Neurol
DOI: 10.1055/s-0039-1692970
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Congenital Genetic Microcephaly: Clinical Diagnostic Approach

Silvia Marino
1  Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry – Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy
,
Piero Pavone
1  Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry – Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy
,
Lidia Marino
1  Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry – Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy
,
Filippo Andrea Salvatore Rapisarda
2  Department of Maternal and Child – Gynecology and Obstetrics, ARNAS Garibaldi-Nesima, Catania, Italy
,
Raffaele Falsaperla
1  Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry – Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy
› Author Affiliations
Further Information

Publication History

16 February 2019

20 May 2019

Publication Date:
03 July 2019 (online)

Abstract

Microcephaly is an important neurological sign defined by a cranial circumference < 2 standard deviations or < 3 standard deviations in the severe form compared with age- and gender-matched children. Microcephaly is classified as congenital (prenatal) and postnatal. In general, microcephaly may result from an insult, including infections, metabolic diseases, cerebral malformations, and/or genetic syndromes that disturb early brain growth. Clinical history, the trajectory of the child's growth in terms of head circumference, and a detailed physical examination will often be suggestive of a diagnostic workup. Advances in neuroimaging and especially genetics have yielded improvements in understanding the causes of microcephaly, leading to new approaches in diagnosis, treatment, and prevention. The aim of the present study is to report the current practice for the diagnostic algorithm of genetic microcephaly, with prenatal onset.

Statement of Ethics

The authors have no ethical conflicts to disclose.