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

Giovanni Corsello; Gregorio Serra; Livia Amato; Ettore Piro; Giulia Mincuzzi; Giuseppe Di Rocco; Lucia Lo Scalzo; Valeria Ciacio; Veronica Vanella

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

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

Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”

Risultato della ricerca: Article › peer review

Abstract

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 fromOctober 2001 to December 2019, for diagnostic definition and/or neurodevelopmental assessment. Brain sonography has beenperformed 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 aneurodevelopmental impairment. A genetic and/or concomitant malformation were present in 11.1% of the sample. A male prevalencefor impaired outcome has been ascertained.Conclusions: early identification of pathological macrocephaly is necessary to plan a possible treatment, an individualized andmultidisciplinary follow up and an effective genetic counseling.

Lingua originale	English
Numero di pagine	4
Rivista	Acta Medica Mediterranea
Stato di pubblicazione	Published - 2020

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@article{d250a4c5400f448398d3c768918fb1be,

title = "MACROCEPHALY FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS",

abstract = "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 fromOctober 2001 to December 2019, for diagnostic definition and/or neurodevelopmental assessment. Brain sonography has beenperformed 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 aneurodevelopmental impairment. A genetic and/or concomitant malformation were present in 11.1% of the sample. A male prevalencefor impaired outcome has been ascertained.Conclusions: early identification of pathological macrocephaly is necessary to plan a possible treatment, an individualized andmultidisciplinary follow up and an effective genetic counseling.",

author = "Giovanni Corsello and Gregorio Serra and Livia Amato and Ettore Piro and Giulia Mincuzzi and {Di Rocco}, Giuseppe and {Lo Scalzo}, Lucia and Valeria Ciacio and Veronica Vanella",

year = "2020",

language = "English",

journal = "Acta Medica Mediterranea",

issn = "0393-6384",

publisher = "A. CARBONE Editore",

}

TY - JOUR

T1 - MACROCEPHALY FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS

AU - Corsello, Giovanni

AU - Serra, Gregorio

AU - Amato, Livia

AU - Piro, Ettore

AU - Mincuzzi, Giulia

AU - Di Rocco, Giuseppe

AU - Lo Scalzo, Lucia

AU - Ciacio, Valeria

AU - Vanella, Veronica

PY - 2020

Y1 - 2020

N2 - 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 fromOctober 2001 to December 2019, for diagnostic definition and/or neurodevelopmental assessment. Brain sonography has beenperformed 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 aneurodevelopmental impairment. A genetic and/or concomitant malformation were present in 11.1% of the sample. A male prevalencefor impaired outcome has been ascertained.Conclusions: early identification of pathological macrocephaly is necessary to plan a possible treatment, an individualized andmultidisciplinary follow up and an effective genetic counseling.

AB - 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 fromOctober 2001 to December 2019, for diagnostic definition and/or neurodevelopmental assessment. Brain sonography has beenperformed 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 aneurodevelopmental impairment. A genetic and/or concomitant malformation were present in 11.1% of the sample. A male prevalencefor impaired outcome has been ascertained.Conclusions: early identification of pathological macrocephaly is necessary to plan a possible treatment, an individualized andmultidisciplinary follow up and an effective genetic counseling.

UR - http://hdl.handle.net/10447/429311

M3 - Article

JO - Acta Medica Mediterranea

JF - Acta Medica Mediterranea

SN - 0393-6384

ER -