Fetal neurosonographic phenotyping of inborn errors of metabolism
DOI:
https://doi.org/10.12809/hkjgom.23.1.09Keywords:
Brain, Genetic testing, Magnetic resonance imaging, Metabolism, inborn errors, Prenatal diagnosis, Ultrasonography, prenatalAbstract
Fetal central nervous system malformations are commonly encountered during routine fetal morphology scans. Fetal ventriculomegaly is among the most common prenatal neuroimaging findings including midline abnormalities, posterior fossa abnormalities, and cortical malformation. Their imaging features are often symptoms or part of the phenotypic features of the underlying disease. Collective information from targeted fetal neurosonography, magnetic resonance imaging, and genetic testing can help clinicians to make the diagnosis. We review various common and essential fetal neuroimaging features and highlight their association with inborn errors of metabolism.
References
Rohde C, Thiele AG, Baerwald C, et al. Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. Orphanet J Rare Dis 2021;16:477.
Jeanmonod R, Asuka E, Jeanmonod D. Inborn Errors of Metabolism. Treasure Island, Florida: StatPearls Publishing; 2022.
Morava E, Rahman S, Peters V, Baumgartner MR, Patterson M, Zschocke J. Quo vadis: the re-definition of “inborn metabolic diseases”. J Inherit Metab Dis 2015;38:1003-6.
Schuck PF, Ferreira GC, McKenna MC. Recent advances in the pathophysiology of inherited metabolic diseases. Int J Dev Neurosci 2020;80:50-1.
Law CY. Combined metabolomics and genomics approach for the diagnosis of inherited metabolic disorders (IMD). Topical Update — The Hong Kong College of Pathologists 2021.
Wishart DS, Guo A, Oler E, et al. HMDB 5.0: the Human Metabolome Database for 2022. Nucleic Acids Res 2022;50:D622-D631.
Raam MS, Solomon BD, Muenke M. Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr 2011;48:457-66.
Stiles J, Jernigan TL. The basics of brain development. Neuropsychol Rev 2010;20:327-48.
Demyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 1964;34:256-63.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Holoprosencephaly. Am J Obstet Gynecol 2020;223:B13-B16.
Weiss K, Kruszka PS, Levey E, Muenke M. Holoprosencephaly from conception to adulthood. Am J Med Genet C Semin Med Genet 2018;178:122-7.
Engels AC, Joyeux L, Brantner C, et al. Sonographic detection of central nervous system defects in the first trimester of pregnancy. Prenat Diagn 2016;36:266-73.
Chen CP, Wang TH, Lin CC, Tsai FJ, Hsieh LJ, Wang W. Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. J Formos Med Assoc 2008;107:822-6.
Kanafani S, Aboura A, Pipiras E, et al. Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. Prenat Diagn 2007;27:279-84.
Campeau PM, Ah Mew N, Cartier L, et al. Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am J Med Genet A 2008;146A:3062-9.
Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet 2010;154C:52-61.
Haas D, Muenke M. Abnormal sterol metabolism in holoprosencephaly. Am J Med Genet C Semin Med Genet 2010;154C:102-8.
Mills K, Mandel H, Montemagno R, Soothill P, Gershoni-Baruch R, Clayton PT. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). Pediatr Res 1996;39:816-9.
Kratz LE, Kelley RI. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 1999;82:376-81.
Lee RW, Conley SK, Gropman A, Porter FD, Baker EH. Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A 2013;161A:2407-19.
Yaplito-Lee J, Pai G, Hardikar W, et al. Successful treatment of lathosterolosis: a rare defect in cholesterol biosynthesis: a case report and review of literature. JIMD Rep 2020;56:14-9.
Ho AC, Fung CW, Siu TS, et al. Lathosterolosis: a disorder of cholesterol biosynthesis resembling Smith-Lemli-Opitz syndrome. JIMD Rep 2014;12:129-34.
Wassif CA, Kratz L, Sparks SE, et al. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med 2017;19:297-305.
Ballout RA, Bianconi S, Livinski A, Fu YP, Remaley AT, Porter FD. Statins for Smith-Lemli-Opitz syndrome. Cochrane Database Syst Rev 2020;2020:CD013521.
Opitz JM, Holt MC. Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Biol 1990;10:175-204.
von der Hagen M, Pivarcsi M, Liebe J, et al. Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol 2014;56:732-41.
Chervenak FA, Jeanty P, Cantraine F, et al. The diagnosis of fetal microcephaly. Am J Obstet Gynecol 1984;149:512-7.
Chervenak FA, Rosenberg J, Brightman RC, Chitkara U, Jeanty P. A prospective study of the accuracy of ultrasound in predicting fetal microcephaly. Obstet Gynecol 1987;69:908-10.
Zaqout S, Kaindl AM. Autosomal recessive primary microcephaly: not just a small brain. Front Cell Dev Biol 2021;9:784700.
Shaheen R, Maddirevula S, Ewida N, et al. Genomic and phenotypic delineation of congenital microcephaly. Genet Med 2019;21:545-52.
Martin AR, Williams E, Foulger RE, et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet 2019;51:1560-5.
De Koning TJ, Duran M, Van Maldergem L, et al. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. J Inherit Metab Dis 2002;25:119-25.
de Koning TJ. Amino acid synthesis deficiencies. Handb Clin Neurol 2013;113:1775-83.
Alfadhel M, Alrifai MT, Trujillano D, et al. Asparagine synthetase deficiency: new inborn errors of metabolism. JIMD Rep 2015;22:11-6.
Nowaczyk MJM, Wassif CA. Smith-Lemli-Opitz syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, editors. GeneReviews. Seattle, Washington: University of Washington, Seattle: 1993-2023.
Pirot N, Crahes M, Adle-Biassette H, et al. Phenotypic and neuropathological characterization of fetal pyruvate dehydrogenase deficiency. J Neuropathol Exp Neurol 2016;75:227-38.
van Spronsen FJ, Hoeksma M, Reijngoud DJ. Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? J Inherit Metab Dis 2009;32:46-51.
Biran-Gol Y, Malinger G, Cohen H, et al. Developmental outcome of isolated fetal macrocephaly. Ultrasound Obstet Gynecol 2010;36:147-53.
Tan AP, Mankad K, Goncalves FG, Talenti G, Alexia E. Macrocephaly: solving the diagnostic dilemma. Top Magn Reson Imaging 2018;27:197-217.
Mellerio C, Marignier S, Roth P, et al. Prenatal cerebral ultrasound and MRI findings in glutaric aciduria type 1: a de novo case. Ultrasound Obstet Gynecol 2008;31:712-4.
Lin SK, Hsu SG, Ho ES, et al. Glutaric aciduria (type I): prenatal ultrasonographic findings. Ultrasound Obstet Gynecol 2002;20:305-7.
Kolker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I: revised recommendations. J Inherit Metab Dis 2011;34:677-94.
Strauss KA, Williams KB, Carson VJ, et al. Glutaric acidemia type 1: treatment and outcome of 168 patients over three decades. Mol Genet Metab 2020;131:325-40.
Saudubray JM, Garcia-Cazorla A. An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci 2018;20:301-25.
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135:1348-69.
Huang J, Wah IY, Pooh RK, Choy KW. Molecular genetics in fetal neurology. Semin Fetal Neonatal Med 2012;17:341-6.
Volpe JJ, Inder TE, Darras BT, et al. Volpe’s Neurology of the Newborn. 6th Edition; 2017.
Murthy BSR. Imaging of Fetal Brain and Spine: an Atlas and Guide; 2019.
Paladini D, Malinger G, Birnbaum R, et al. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol 2021;57:661-71.
Glenn OA. Normal development of the fetal brain by MRI. Semin Perinatol 2009;33:208-19.
Cohen-Sacher B, Lerman-Sagie T, Lev D, Malinger G. Sonographic developmental milestones of the fetal cerebral cortex: a longitudinal study. Ultrasound Obstet Gynecol 2006;27:494-502.
Pooh RK, Nakagawa Y, Nishida S, Ohno Y. Fetal neuroimaging of neural migration disorder. Ultrasound Clin 2008;3:541-52.
Mittal P, Goncalves LF, Kusanovic JP, et al. Objective evaluation of sylvian fissure development by multiplanar 3-dimensional ultrasonography. J Ultrasound Med 2007;26:347-53.
Quarello E, Stirnemann J, Ville Y, Guibaud L. Assessment of fetal Sylvian fissure operculization between 22 and 32 weeks: a subjective approach. Ultrasound Obstet Gynecol 2008;32:44-9.
Cater SW, Boyd BK, Ghate SV. Abnormalities of the fetal central nervous system: prenatal US diagnosis with postnatal correlation. Radiographics 2020;40:1458-72.
Malinger G, Paladini D, Haratz KK, Monteagudo A, Pilu GL, Timor-Tritsch IE. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 1: performance of screening examination and indications for targeted neurosonography. Ultrasound Obstet Gynecol 2020;56:476-84.
Malinger G, Paladini D, Pilu G, Timor-Tritsch IE. Fetal cerebral magnetic resonance imaging, neurosonography and the brave new world of fetal medicine. Ultrasound Obstet Gynecol 2017;50:679-80.
Poon LC, Sahota DS, Chaemsaithong P, et al. Transvaginal three-dimensional ultrasound assessment of Sylvian fissures at 18-30 weeks’ gestation. Ultrasound Obstet Gynecol 2019;54:190-8.
Lacalm A, Nadaud B, Massoud M, Putoux A, Gaucherand P, Guibaud L. Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. Ultrasound Obstet Gynecol 2016;47:117-22.
Allias F, Buenerd A, Bouvier R, et al. The spectrum of type III lissencephaly: a clinicopathological update. Fetal Pediatr Pathol 2004;23:305-17.
Di Donato N, Chiari S, Mirzaa GM, et al. Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A 2017;173:1473-88.
Bahi-Buisson N, Maillard C. Tubulinopathies overview. In: Adam MP, Everman DB, Mirzaa GM, et al, editors. GeneReviews. Seattle, Washington: University of Washington, Seattle; 1993-2023.
Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G. A practical approach to prenatal diagnosis of malformations of cortical development. Eur J Paediatr Neurol 2021;34:50-61.
Natarajan N, Tully HM, Chapman T. Prenatal presentation of pyruvate dehydrogenase complex deficiency. Pediatr Radiol 2016;46:1354-7.
Steinberg SJ, Raymond GV, Braverman NE, et al. Zellweger spectrum disorder. In: Adam MP, Everman DB, Mirzaa GM, et al, editors. GeneReviews. Seattle, Washington: University of Washington, Seattle; 1993-2023.
Wegiel J, Flory M, Kaczmarski W, et al. Partial agenesis and hypoplasia of the corpus callosum in idiopathic autism. J Neuropathol Exp Neurol 2017;76:225-37.
Hofman J, Hutny M, Sztuba K, Paprocka J. Corpus callosum agenesis: an insight into the etiology and spectrum of symptoms. Brain Sci 2020;10:625.
Accogli A, Addour-Boudrahem N, Srour M. Diagnostic approach to cerebellar hypoplasia. Cerebellum 2021;20:631-58.
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