Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature
Article first published online: 12 MAR 2014
© 2014 Mac Keith Press
Developmental Medicine & Child Neurology
Volume 56, Issue 8, pages 732–741, August 2014
How to Cite
von der Hagen, M., Pivarcsi, M., Liebe, J., von Bernuth, H., Didonato, N., Hennermann, J. B., Bührer, C., Wieczorek, D. and Kaindl, A. M. (2014), Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Developmental Medicine & Child Neurology, 56: 732–741. doi: 10.1111/dmcn.12425
- Issue published online: 9 JUL 2014
- Article first published online: 12 MAR 2014
- Manuscript Accepted: 15 JAN 2014
- Charité – Universitätsmedizin Berlin
- Technische Universität Dresden
- German Research Foundation
- DFG. Grant Number: SFB665
- Deutsche Gesellschaft für Muskelkranke (DGM)
The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying causes/disease entities.
We conducted a retrospective study on a cohort of 680 children with microcephaly (399 males, 281 females; mean age at presentation 7–8mo, range 1mo–5y) from patients presenting to Charité – University Medicine Berlin (n=474) and University Hospital Dresden (n=206). Patient discharge letters were searched electronically to identify cases of microcephaly, and then the medical records of these patients were used to analyze parameters for distribution.
The putative aetiology for microcephaly was ascertained in 59% of all patients, leaving 41% without a definite diagnosis. In the cohort of pathogenetically defined microcephaly, genetic causes were identified in about half of the patients, perinatal brain damage accounted for 45%, and postnatal brain damage for 3% of the cases. Microcephaly was associated with intellectual impairment in 65% of participants, epilepsy was diagnosed in 43%, and ophthalmological disorders were found in 30%. Brain magnetic resonance imaging revealed abnormalities in 76% of participants.
Microcephaly remains a poorly defined condition, and a uniform diagnostic approach is urgently needed. A definite aetiological diagnosis is important in order to predict the prognosis and offer genetic counselling. Identifying gene mutations as causes of microcephaly increases our knowledge of brain development and the clinical spectrum of microcephaly. We therefore propose a standardized initial diagnostic approach to microcephaly.