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Review Article| Volume 49, ISSUE 3, P715-734, September 2022

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Imaging of Macrocephaly

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      References

        • Yilmazbas P.
        • Gokcay G.
        • Eren T.
        • et al.
        Macrocephaly diagnosed during well child visits.
        Pediatr Int. 2018; 60: 474-477
        • Medina L.S.
        • Frawley K.
        • Zurakowski D.
        • et al.
        Children with macrocrania: clinical and imaging predictors of disorders requiring surgery.
        AJNR Am J Neuroradiol. 2001; 22: 564-570
        • Sampson M.A.
        • Berg A.D.
        • Huber J.N.
        • et al.
        Necessity of intracranial imaging in infants and children with macrocephaly.
        Pediatr Neurol. 2019; 93: 21-26
        • Thomas C.N.
        • Kolbe A.B.
        • Binkovitz L.A.
        • et al.
        Asymptomatic macrocephaly: to scan or not to scan.
        Pediatr Radiol. 2021; 51: 811-821
        • Smith R.
        • Leonidas J.C.
        • Maytal J.
        The value of head ultrasound in infants with macrocephaly.
        Pediatr Radiol. 1998; 28: 143-146
        • Haws M.E.
        • Linscott L.
        • Thomas C.
        • et al.
        A retrospective analysis of the utility of head computed tomography and/or magnetic resonance imaging in the management of benign macrocrania.
        J Pediatr. 2017; 182: 283-289 e1
        • Lindberg D.M.
        • Stence N.V.
        • Grubenhoff J.A.
        • et al.
        Feasibility and accuracy of fast MRI versus CT for traumatic brain injury in young children.
        Pediatrics. 2019; 144https://doi.org/10.1542/peds.2019-0419
        • Tekes A.
        • Senglaub S.S.
        • Ahn E.S.
        • et al.
        Ultrafast brain MRI can be used for indications beyond shunted hydrocephalus in pediatric patients.
        AJNR Am J Neuroradiol. 2018; 39: 1515-1518
        • Pearce H.T.
        A tried and true advocate: SCMA President Andrew J. Pate, MD 2012-2013.
        J S C Med Assoc. 2013; 109: 1
        • Bosnjak Z.J.
        • Logan S.
        • Liu Y.
        • et al.
        Recent insights into molecular mechanisms of propofol-induced developmental neurotoxicity: implications for the protective strategies.
        Anesth Analg. 2016; 123: 1286-1296
        • Loepke A.W.
        Developmental neurotoxicity of sedatives and anesthetics: a concern for neonatal and pediatric critical care medicine?.
        Pediatr Crit Care Med. 2010; 11: 217-226
        • Havidich J.E.
        • Beach M.
        • Dierdorf S.F.
        • et al.
        Preterm versus term children: analysis of sedation/anesthesia adverse events and longitudinal risk.
        Pediatrics. 2016; 137: e20150463
        • Tucker J.
        • Choudhary A.K.
        • Piatt J.
        Macrocephaly in infancy: benign enlargement of the subarachnoid spaces and subdural collections.
        J Neurosurg Pediatr. 2016; 18: 16-20
        • Alper G.
        • Ekinci G.
        • Yilmaz Y.
        • et al.
        Magnetic resonance imaging characteristics of benign macrocephaly in children.
        J Child Neurol. 1999; 14: 678-682
        • Greiner M.V.
        • Richards T.J.
        • Care M.M.
        • et al.
        Prevalence of subdural collections in children with macrocrania.
        AJNR Am J Neuroradiol. 2013; 34: 2373-2378
        • Zahl S.M.
        • Egge A.
        • Helseth E.
        • et al.
        Quality of life and physician-reported developmental, cognitive, and social problems in children with benign external hydrocephalus-long-term follow-up.
        Childs Nerv Syst. 2019; 35: 245-250
        • Care M.M.
        Macrocephaly and subdural collections.
        Pediatr Radiol. 2021; 51: 891-897
        • Hansen J.B.
        • Frazier T.
        • Moffatt M.
        • et al.
        Evaluations for abuse in young children with subdural hemorrhages: findings based on symptom severity and benign enlargement of the subarachnoid spaces.
        J Neurosurg Pediatr. 2018; 21: 31-37
        • Feldman K.W.
        • Sugar N.F.
        • Browd S.R.
        Initial clinical presentation of children with acute and chronic versus acute subdural hemorrhage resulting from abusive head trauma.
        J Neurosurg Pediatr. 2015; 16: 177-185
        • Choudhary A.K.
        • Bradford R.
        • Dias M.S.
        • et al.
        Venous injury in abusive head trauma.
        Pediatr Radiol Nov. 2015; 45: 1803-1813
        • Hoffmann G.F.
        • Athanassopoulos S.
        • Burlina A.B.
        • et al.
        Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
        Neuropediatrics. 1996; 27: 115-123
        • Hedlund G.L.
        • Longo N.
        • Pasquali M.
        Glutaric acidemia type 1.
        Am J Med Genet C Semin Med Genet. 2006; 142C: 86-94
        • Kahle K.T.
        • Kulkarni A.V.
        • Limbrick Jr., D.D.
        • et al.
        Hydrocephalus in children.
        Lancet. 2016; 387: 788-799
        • Neuberger I.
        • Garcia J.
        • Meyers M.L.
        • et al.
        Imaging of congenital central nervous system infections.
        Pediatr Radiol. 2018; 48: 513-523
        • Benacerraf B.R.
        • Shipp T.D.
        • Bromley B.
        • et al.
        What does magnetic resonance imaging add to the prenatal sonographic diagnosis of ventriculomegaly?.
        J Ultrasound Med. 2007; 26: 1513-1522
        • Griffiths P.D.
        • Reeves M.J.
        • Morris J.E.
        • et al.
        A prospective study of fetuses with isolated ventriculomegaly investigated by antenatal sonography and in utero MR imaging.
        AJNR Am J Neuroradiol. 2010; 31: 106-111
        • Manganaro L.
        • Savelli S.
        • Francioso A.
        • et al.
        Role of fetal MRI in the diagnosis of cerebral ventriculomegaly assessed by ultrasonography.
        Radiol Med. 2009; 114: 1013-1023
        • Morris J.E.
        • Rickard S.
        • Paley M.N.J.
        • et al.
        The value of in-utero magnetic resonance imaging in ultrasound diagnosed foetal isolated cerebral ventriculomegaly.
        Clin Radiol. 2007; 62: 140-144
        • Mirsky D.M.
        • Stence N.V.
        • Powers A.M.
        • et al.
        Imaging of fetal ventriculomegaly.
        Pediatr Radiol. 2020; 50: 1948-1958
        • Kenwrick S.
        • Jouet M.
        • Donnai D.
        X linked hydrocephalus and MASA syndrome.
        J Med Genet. 1996; 33: 59-65
        • Adzick N.S.
        • Thom E.A.
        • Spong C.Y.
        • et al.
        A randomized trial of prenatal versus postnatal repair of myelomeningocele.
        N Engl J Med. 2011; 364: 993-1004
        • Tulipan N.
        • Wellons 3rd, J.C.
        • Thom E.A.
        • et al.
        Prenatal surgery for myelomeningocele and the need for cerebrospinal fluid shunt placement.
        J Neurosurg Pediatr. 2015; 16: 613-620
        • Kazan S.
        • Gura A.
        • Ucar T.
        • et al.
        Hydrocephalus after intraventricular hemorrhage in preterm and low-birth weight infants: analysis of associated risk factors for ventriculoperitoneal shunting.
        Surg Neurol. 2005; 64 (discussion S81): S77-S81
        • Gordon N.
        The neurological complications of achondroplasia.
        Brain Dev. 2000; 22: 3-7
        • Sarkar S.
        • Sinha R.
        • Chakraborty A.
        • et al.
        Infantile alexander disease: case report and review of literature.
        J Clin Diagn Res. 2017; 11: ZD14-ZD15
        • van der Knaap M.S.
        • Ramesh V.
        • Schiffmann R.
        • et al.
        Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
        Neurology. 2006; 66: 494-498
        • Renaud D.L.
        Leukoencephalopathies associated with macrocephaly.
        Semin Neurol. 2012; 32: 34-41
        • Orru E.
        • Calloni S.F.
        • Tekes A.
        • et al.
        The child with macrocephaly: differential diagnosis and neuroimaging findings.
        AJR Am J Roentgenol. 2018; 210: 848-859
        • De Bernardo G.
        • Giordano M.
        • Sordino D.
        • et al.
        Early diagnosis of Canavan syndrome: how can we get there?.
        BMJ Case Rep. 2015; 2015https://doi.org/10.1136/bcr-2014-208755
        • van der Knaap M.S.
        • Boor I.
        • Estevez R.
        Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis.
        Lancet Neurol. 2012; 11: 973-985
        • van der Knaap M.S.
        • Lai V.
        • Kohler W.
        • et al.
        Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
        Ann Neurol. 2010; 67: 834-837
        • Seijo-Martinez M.
        • Navarro C.
        • Castro del Rio M.
        • et al.
        L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.
        Arch Neurol. 2005; 62: 666-670
        • Keppler-Noreuil K.M.
        • Rios J.J.
        • Parker V.E.
        • et al.
        PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
        Am J Med Genet A. 2015; 167A: 287-295
        • Conway R.L.
        • Pressman B.D.
        • Dobyns W.B.
        • et al.
        Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
        Am J Med Genet A. 2007; 143A: 2981-3008
        • Butler M.G.
        • Dasouki M.J.
        • Zhou X.P.
        • et al.
        Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
        J Med Genet. 2005; 42: 318-321
        • Buxbaum J.D.
        • Cai G.
        • Chaste P.
        • et al.
        Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
        Am J Med Genet B Neuropsychiatr Genet. 2007; 144B: 484-491
        • Vanderver A.
        • Tonduti D.
        • Kahn I.
        • et al.
        Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
        Am J Med Genet A. 2014; 164A: 627-633
        • Shao D.D.
        • Achkar C.M.
        • Lai A.
        • et al.
        Polymicrogyria is associated with pathogenic variants in PTEN.
        Ann Neurol. 2020; 88: 1153-1164
        • Olney A.H.
        Macrocephaly syndromes.
        Semin Pediatr Neurol. 2007; 14: 128-135