MACROCEPHALY: FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS

Gregorio Serra, Giulia Mincuzzi, Livia Amato, Valeria Ciacio, Lucia Lo Scalzo, Giuseppe Di Rocco, Veronica Vanella, Ettore Piro^*, Giovanni corsello

Neonatal Intensive Care Unit, AOUP “P. Giaccone” Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of Palermo, Piazza delle Cliniche 2, 90127. Palermo, Italy

Introduction: Macrocephaly, defined as a head circumference more than two standard deviations from the normal distribution, is among the most frequently requested neuropediatric consultations.

Materials: we conducted a retrospective study on 189 subjects with macrocephaly, from birth to 18 years old, enrolled from October 2001 to December 2019, for diagnostic definition and/or neurodevelopmental assessment. Brain sonography has been performed in all infants and CT or MR in selected patients.

Results: macrocephaly was prevalent in males (62.4%), a head circumference >3SD (8.5%) has been associated with a neurodevelopmental impairment. A genetic and/or concomitant malformation were present in 11.1% of the sample. A male prevalence for impaired outcome has been ascertained.

Conclusions: early identification of pathological macrocephaly is necessary to plan a possible treatment, an individualized and multidisciplinary follow up and an effective genetic counseling.