Search results for " macrocephaly"

showing 3 items of 3 documents

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

2017

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 associate…

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
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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

2021

Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Based on a French collaboration, we collected clinical features of 33 patients (21 females, 12 males, median age of 9.9 years) with MCAP carrying mosaic PIK3CA pathogenic variants. MRI images were reviewed for 21 pat…

AdultMale0301 basic medicinePediatricsmedicine.medical_specialtyCutis marmorataAdolescentClass I Phosphatidylinositol 3-KinasesNeuroimagingContext (language use)Skin Diseases Vascular030105 genetics & heredityCohort StudiesYoung Adult03 medical and health sciencesGeneticsPolymicrogyriamedicineHumansPROSAbnormalities MultipleTelangiectasisMegalencephalyChildMCAP syndromeGenetics (clinical)Chiari malformationClinical Trials as Topicbusiness.industryMacrocephalyPIK3CAmedicine.diseaseMagnetic Resonance ImagingMegalencephaly3. Good healthClinical trial030104 developmental biologyChild PreschoolPostnatal macrocephalyFemalemedicine.symptombusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyForecastingVentriculomegalyClinical Genetics
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MACROCEPHALY FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS

2020

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…

Head circumference macrocephaly megalencephaly developmental delay brain sonography.
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