Megalensefali ile Giden Nörometabolik Hastalıklar ve Görüntüleme Bulguları

Mirzaa GM, Dobyns WB. (2017) Disorders of Brain Size. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, et al., editors. Swaiman's Pediatric Neurology (Sixth Edition). Elsevier.

Accogli A, Geraldo AF, Piccolo G, Riva A, Scala M, Balagura G, et al. Diagnostic Approach to Macrocephaly in Children. Front Pediatr. 2021;9:794069.

Pavone P, Praticò AD, Rizzo R, Corsello G, Ruggieri M, Parano E, et al. A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. Medicine. 2017;96(26).

Dobyns WB, Mirzaa GM. Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Am J Med Genet C Semin Med Genet. 2019;181(4):582-590.

Kölker S, Hoffmann GF. (2022). Cerebral Organic Acid Disorders, Cerebral organic acid disorders and Other Disorders of Lysine Catabolism. In: Saudubray J-M, Baumgartner MR, García-Cazorla Á, Walter J, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin, Heidelberg: Springer Berlin Heidelberg.

Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, et al. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision. J Inherit Metab Dis. 2023;46(3):482-519.

Sitta A, Guerreiro G, de Moura Coelho D, da Rocha VV, Dos Reis BG, Sousa C, et al. Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. Metab Brain Dis. 2021;36(2):205-212.

Zhou J, Li G, Deng L, Zhao P, Zeng Y, Qiu X, et al. Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China. Orphanet J Rare Dis. 2023;18(1):215.

Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, et al. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab. 2020;131(3):325-340.

Paria P, Saini AG, Attri S, Kaur R, Malhi P, Didwal G, et al. Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. Eur J Paediatr Neurol. 2022;39:49-58.

Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, et al. The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study. Sci Rep. 2021;11(1):19300.

Zielonka M, Braun K, Bengel A, Seitz A, Kölker S, Boy N. Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report. Journal of Child Neurology. 2014;30(8):1065-1069.

Serrano Russi A, Donoghue S, Boneh A, Manara R, Burlina AB, Burlina AP. Malignant brain tumors in patients with glutaric aciduria type I. Mol Genet Metab. 2018;125(3):276-280.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015;38(6):1059-1074.

Bian B, Liu Z, Feng D, Li W, Wang L, Li Y, et al. Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging. American Journal of Neuroradiology. 2023;44(8):967.

Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, et al. l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Human Molecular Genetics. 2004;13(22):2803-2811.

Bozaci AE, Er E, Ünal AT, Taş İ, Ayaz E, Ozbek MN, et al. Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey. Mol Genet Metab Rep. 2023;36:100979.

Sivadasan S, S V, Sundaram S. Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. Neurology. 2018;91(16):e1549-e1550.

Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat. 2010;31(4):380-390.

Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, et al. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. 2005;47(1):1-7.

Shah H, Chandarana M, Sheth J, Shah S. A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria. Mov Disord Clin Pract. 2020;7(5):560-563.

Bellad A, Holla VV, Kumari R, Kamble N, Yadav R, Pandey A, et al. Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. Acta Neurol Belg. 2023.

Kular S. Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria. Radiol Case Rep. 2020;15(1):59-64.

Zübarioğlu T, Yalçınkaya C, Oruç Ç, Kıykım E, Cansever M, Gezdirici A, et al. Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria. Turk Pediatri Ars. 2020;55(3):290-298.

Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, et al. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics. 2008;39(2):119-122.

Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012;35(4):571-587.

Muthusamy K, Sudhakar SV, Christudass CS, Chandran M, Thomas M, Gibikote S. Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort. J Clin Imaging Sci. 2019;9:3.

Enokizono M, Aida N, Yagishita A, Nakata Y, Ideguchi R, Kurokawa R, et al. Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies. Japanese Journal of Radiology. 2023;41(7):683-702.

George J, Sandhya P, Sajitha KV, Sundaram S. Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria. BMJ Case Rep. 2021;14(7).

Stapleton M, Hoshina H, Sawamoto K, Kubaski F, Mason RW, Mackenzie WG, et al. Critical review of current MPS guidelines and management. Molecular Genetics and Metabolism. 2019;126(3):238-245.

Shapiro EG, Eisengart JB. The natural history of neurocognition in MPS disorders: A review. Mol Genet Metab. 2021;133(1):8-34.

Galimberti C, Madeo A, Di Rocco M, Fiumara A. Mucopolysaccharidoses: early diagnostic signs in infants and children. Italian Journal of Pediatrics. 2018;44(2):133.

McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021;37:100874.

Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, et al. Mucopolysaccharidosis: A broad review. Indian J Ophthalmol. 2022;70(7):2249-2261.

Costanzo R, Bonosi L, Porzio M, Paolini F, Brunasso L, Giovannini AE, et al. Burden of Surgical Treatment for the Management of Cervical Myelopathy in Mucopolysaccharidoses: A Systematic Review. Brain Sci. 2022;13(1).

Costi S, Caporali RF, Marino A. Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know. Diagnostics (Basel). 2022;13(1).

Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, et al. Sanfilippo syndrome: consensus guidelines for clinical care. Orphanet J Rare Dis. 2022;17(1):391.

Wiśniewska K, Wolski J, Gaffke L, Cyske Z, Pierzynowska K, Węgrzyn G. Misdiagnosis in mucopolysaccharidoses. J Appl Genet. 2022;63(3):475-495.

Nicolas-Jilwan M, AlSayed M. Mucopolysaccharidoses: overview of neuroimaging manifestations. Pediatr Radiol. 2018;48(10):1503-1520.

Reichert R, Campos LG, Vairo F, de Souza CF, Pérez JA, Duarte J, et al. Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know. Radiographics. 2016;36(5):1448-1462.

Pal AR, Langereis EJ, Saif MA, Mercer J, Church HJ, Tylee KL, et al. Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome. Orphanet Journal of Rare Diseases. 2015;10(1):42.

Scarpa M, Lourenço CM, Amartino H. Epilepsy in mucopolysaccharidosis disorders. Mol Genet Metab. 2017;122s:55-61.

Rossi A, Brunetti-Pierri N. Gene therapies for mucopolysaccharidoses. J Inherit Metab Dis. 2023.

Penon-Portmann M, Blair DR, Harmatz P. Current and new therapies for mucopolysaccharidoses. Pediatr Neonatol. 2023;64 Suppl 1:S10-s17.

Vanderver A, Wolf NI. (2017). Genetic and Metabolic Disorders of the White Matter. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, et al., editors. Swaiman's Pediatric Neurology (Sixth Edition). Elsevier.

Adang L. Leukodystrophies. Continuum (Minneap Minn). 2022;28(4):1194-1216.

Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, et al. The natural history of Canavan disease: 23 new cases and comparison with patients from literature. Orphanet J Rare Dis. 2021;16(1):227.

Çakar NE, Aksu Uzunhan T. A case of juvenile Canavan disease with distinct pons involvement. Brain Dev. 2020;42(2):222-225.

Nguyen HV, Ishak GE. Canavan disease – unusual imaging features in a child with mild clinical presentation. Pediatric Radiology. 2015;45(3):457-460.

Merrill ST, Nelson GR, Longo N, Bonkowsky JL. Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. Orphanet J Rare Dis. 2016;11(1):169.

Sreenivasan P, Purushothaman KK. Radiological clue to diagnosis of Canavan disease. Indian J Pediatr. 2013;80(1):75-77.

Topçu M, Yalnizoğlu D, Saatçi I, Haliloğlu G, Topaloğlu H, Senbil N, et al. Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. Turk J Pediatr. 2004;46(1):67-71.

Wei H, Moffett JR, Amanat M, Fatemi A, Tsukamoto T, Namboodiri AM, et al. The pathogenesis of, and pharmacological treatment for, Canavan disease. Drug Discovery Today. 2022;27(9):2467-2483.

van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol. 2012;11(11):973-985.

Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, et al. Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. Neurology. 2018;90(16):e1395-e1403.

Passchier EMJ, Kerst S, Brouwers E, Hamilton EMC, Bisseling Q, Bugiani M, et al. Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema. Brain. 2023;146(8):3444-3454.

Khalaf-Nazzal R, Dweikat I, Maree M, Alawneh M, Barahmeh M, Doulani RT, et al. Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families. Brain Dev. 2022;44(7):454-461.

Sadek AA, Aladawy MA, Mansour TMM, Ibrahim MF, Mohamed MM, Gad EF, et al. Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts. J Child Neurol. 2022;37(5):380-389.

Brožová K, Krásničanová H, Rusina R. Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome. Clin Neurol Neurosurg. 2019;184:105400.

Sönmez HE, Savaş M, Aliyeva B, Deniz A, Güngör M, Anık Y, et al. The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts. Pediatr Neurol. 2023;144:72-77.

Bosch A, Estévez R. Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy. Front Cell Neurosci. 2020;14:627887.

Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet. 2001;27(1):117-120.

Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011;77(13):1287-1294.

Knuutinen O, Kousi M, Suo-Palosaari M, Moilanen JS, Tuominen H, Vainionpää L, et al. Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases. Neuropediatrics. 2018;49(4):256-261.

Mura E, Nicita F, Masnada S, Battini R, Ticci C, Montomoli M, et al. Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients. Molecular Genetics and Metabolism. 2021;134(4):353-358.

Gowda VK, Srinivasan VM, Bhat M, Prasad C. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms. The Indian Journal of Pediatrics. 2020;87(10):871-872.

Paprocka J, Rzepka-Migut B, Rzepka N, Jezela-Stanek A, Morava E. Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia. Balkan J Med Genet. 2019;22(2):77-82.

Almudhry M, Alotaibi M, Mir A. Palato-Lingual Tremor in a Child With Juvenile-Onset Alexander Disease. Pediatric Neurology. 2022;126:1-2.

Renaldo F, Chalard F, Valence S, Burglen L, Rodriguez D. Area Postrema Syndrome as the Initial Presentation of Alexander Disease. Neurology. 2021;97(11):548-549.

Yuan Y, Wu Q, Huo L, Wang H, Liu X. Case report: Alexander's disease with "head drop" as the main symptom and literature review. Front Neurol. 2022;13:1002527.

Anis S, Fay-Karmon T, Lassman S, Shbat F, Lesman-Segev O, Mor N, et al. Adult-onset Alexander disease among patients of Jewish Syrian descent. neurogenetics. 2023;24(4):303-310.

Fan S, Zhao Y, Guan H. Isolated Myoclonus of the Vocal Folds in Alexander Disease. JAMA Neurology. 2022;79(2):197-197.

Takeuchi H, Higurashi N, Kawame H, Kaname T, Yanagi K, Nonaka Y, et al. GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. Radiol Case Rep. 2022;17(3):771-774.

Gowda VK, Srinivasan VM, Jetha K, Bhat MD. A Case of Juvenile Alexander Disease Presenting as Microcephaly. Indian J Pediatr. 2019;86(4):392-393.

Devos J, Devriendt K, Richter J, Jansen K, Baldewijns M, Thal DR, et al. Fetal-onset Alexander disease with radiological-neuropathological correlation. Pediatric Radiology. 2023;53(10):2149-2153.

van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol. 2001;22(3):541-552.

Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, et al. Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol. 2008;29(6):1190-1196.

Sollee J, Waldman A. Teaching NeuroImage: Dorsal Medullary Lesions in Juvenile-Onset Alexander Disease. Neurology. 2021;97(20):e2050-e2051.

Kora K, Kato T, Ide M, Tanaka T, Yoshida T. Inflammatory neuropathology of infantile Alexander disease: A case report. Brain and Development. 2020;42(1):64-68.

Dunham C, Sargent M, Halverson M, Hukin J, Tamber M, Richardson A. Familial juvenile onset Alexander Disease demonstrating germline mosaicism and presenting with a tumor-like mass of the medulla. Canadian Journal of Neurological Sciences. 2021;48(s1):S3-S4.

Hagemann TL. Alexander disease: models, mechanisms, and medicine. Current Opinion in Neurobiology. 2022;72:140-147.

Hagemann TL, Powers B, Mazur C, Kim A, Wheeler S, Hung G, et al. Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease. Ann Neurol. 2018;83(1):27-39.