Diagnostic Approach to Macrocephaly in Children

被引:28
作者
Accogli, Andrea [1 ]
Geraldo, Ana Filipa [2 ]
Piccolo, Gianluca [3 ]
Riva, Antonella [4 ]
Scala, Marcello [4 ]
Balagura, Ganna [3 ]
Salpietro, Vincenzo [3 ,4 ]
Madia, Francesca [5 ]
Maghnie, Mohamad [4 ,5 ]
Zara, Federico [4 ,6 ]
Striano, Pasquale [3 ,4 ]
Tortora, Domenico [7 ]
Severino, Mariasavina [7 ]
Capra, Valeria [6 ]
机构
[1] McGill Univ, Div Med Genet, Dept Med, Hlth Ctr, Montreal, PQ, Canada
[2] Ctr Hosp Vila Nova de Gaia Espinho, Imaging Dept, Diagnost Neuroradiol Unit, Vila Nova De Gaia, Portugal
[3] IRCCS Giannina Gaslini Inst, Pediat Neurol & Neuromuscular Dis Unit, Genoa, Italy
[4] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
[5] IRCCS Ist Giannina Gaslini, Pediat Clin & Endocrinol, Genoa, Italy
[6] IRCCS Giannina Gaslini Inst, Med Genet Unit, Genoa, Italy
[7] IRCCS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy
来源
FRONTIERS IN PEDIATRICS | 2022年 / 9卷
关键词
macrocephaly; brain MRI; megalencephaly; head circumference; genetic diagnosis; TUBEROUS SCLEROSIS COMPLEX; CONGENITAL LIPOMATOUS OVERGROWTH; BENIGN EXTERNAL HYDROCEPHALUS; GLUTARIC ACIDURIA TYPE-1; NEVI CLOVE-SYNDROME; FRAGILE-X-SYNDROME; HEAD CIRCUMFERENCE; PROTEUS SYNDROME; CORTICAL DEVELOPMENT; SOMATIC MUTATIONS;
D O I
10.3389/fped.2021.794069
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2-3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as "clinically relevant" when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD-"clinically relevant" megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.
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页数:31
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