6533b835fe1ef96bd129ec2f

RESEARCH PRODUCT

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment

Martino RuggieriEnrico ParanoRaffaele FalsaperlaPiero PavoneGiovanni CorselloAndrea D. PraticòAndrea D. PraticòRenata Rizzo

subject

0301 basic medicineBrain development030105 genetics & hereditymacrocephalybrain dysfunction large head macrocephaly megalencephaly metabolic disorders03 medical and health sciences0302 clinical medicinemedicinemegalencephalymetabolic disordersHumansMegalencephaly10. No inequalitybrain dysfunctionbusiness.industryMedicine (all)Macrocephalybrain dysfunction; large head; macrocephaly; megalencephaly; metabolic disorders; Humans; Observational Studies as Topic; Megalencephaly; Medicine (all)General Medicinemedicine.diseaseHead circumferenceObservational Studies as Topiclarge headMeasurement 2medicine.symptombusinessNeuroscience030217 neurology & neurosurgery

description

Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associated with megalencephaly are classically defined into 3 groups: idiopathic or benign, metabolic, and anatomic. In this article, we seek to underline the clinical aspect of megalencephaly, emphasizing the main disorders that manifest with this anomaly in an attempt to properly categorize these disorders within the megalencephaly group.

yearjournalcountryeditionlanguage
2017-06-01
10.1097/md.0000000000006814http://hdl.handle.net/20.500.11769/318008