Çocukluk Çağı Lökodistrofileri
Özet
Çocukluk çağı lökodistrofileri, santral sinir sistemi beyaz cevherini etkileyen, herediter ve klinik açıdan heterojen bir hastalık grubudur. Tanı sürecinde MRG bulguları ile birlikte ileri genetik testler, hastalığın prognozunu belirlemede ve tedaviye yanıtı değerlendirmede kritik rol oynar. Hastalıklar tipik olarak motor bozukluklar, bilişsel gerileme ve çeşitli sistemik tutulumlarla karakterize olup, erken dönemde ayırıcı tanı yapılması yönetim stratejileri açısından hayati önem taşır.
Childhood leukodystrophies are a heterogeneous group of hereditary disorders that primarily affect the central nervous system's white matter. Advanced neuroimaging, particularly MRI, combined with comprehensive genetic testing, serves as the cornerstone for accurate diagnosis and prognostic evaluation. These conditions manifest through a broad spectrum of symptoms, including motor deterioration and cognitive decline, necessitating early identification to optimize therapeutic management and patient outcomes.
Referanslar
Vanderver A, Prust M, Tonduti D, et al. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015;114(4):494–500.
Parikh S, Bernard G, Leventer RJ, et al. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015;114(4):501–515.
Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011;11(10):1485–1496.
Ashrafi MR, Tavasoli AR. Childhood leukodystrophies: a literature review of updates on new definitions, classification, diagnostic approach and management. Brain Dev. 2017;39(5):369–385.
Van der Knaap MS, Schiffmann R, Mochel F, et al. Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 2019;18 (10):962–972.
Barkovich AJ, Kjos BO, Jackson DE, Norman D. Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology 1988;166:173–180.
Barkovich AJ. Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol 2000;21:1099– 1109.
Van der Knaap MS, Naidu S, Pouwels PJ, et al. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol 2002;23:1466–1474.
Heim P, Claussen M, Hoffmann B, et al. Leukodystrophy incidence in Germany. Am J Med Genet A. 1997;71(4):475–478. 22.
Ashrafi MR, Rezaei Z, Heidari M, et al. The first report of relative incidence of inherited white matter disorders in an Asian country based on an Iranian bioregistry system. J Child Neurol. 2018;33 (4):255–259.
Bonkowsky JL, Wilkes J, Bardsley T, et al. Association of diagnosis of leukodystrophy with race and ethnicity among pediatric and adolescent patients. JAMA Network Open. 2018;1(7):e185031–e185031.
Kevelam SH, Steenweg ME, Srivastava S, et al. Update on leukodystrophies: a historical perspective and adapted definition. Neuropediatrics. 2016;47(06):349–354.
Geren BB, Raskind J. Development of the fine structure of the myelin sheath in sciatic nerves of chick embryos. Proc Natl Acad Sci U S A. 1953;39(8):880
van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol. 2017;134(3):351–382.
Adang LA, Sherbini O, Ball L, et al. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017;122(1–2):18–32.
Prust M, Wang J, Morizono H, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011;77(13):1287–1294.
Schuster J, Sundblom J, Thuresson A-C, et al. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics. 2011;12(1):65–72.
Köhler W, Curiel J, Vanderver A. Adulthood leukodystrophies. Nat Rev Neurol. 2018;14(2):94.
Crow YJ, Chase DS, Lowenstein Schmidt J, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet Part A. 2015;167(2):296–312.
Cameron CL, Kang PB, Burns TM, et al. Multifocal slowing of nerve conduction in metachromatic leukodystrophy. Muscle Nerve 2004; 29:531.
Datar R, Prasad AN, Tay KY, et al. Magnetic resonance imaging in the diagnosis of white matter signal abnormalities. Neuroradiol J. 2018;31(4):362–371.
Koob M, Rousseau F, Laugel V, et al. Cockayne syndrome: a diffusion tensor imaging and volumetric study. Br J Radiol. 2016;89 (1067):20151033.
Barreau P, Prust MJ, Crane J, et al. Focal central white matter lesions in Alexander disease. J Child Neurol. 2011;26(11):1422–1424.
Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009;72 (8):750–759.
Wolf NI, van Spaendonk RML, Hobson GM, et al. PLP1 disorders. In: GeneReviews, Adam MP, Ardinger HH, Pagon RA, et al. (Eds), University of Washington, Seattle 2019. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1182/ (Accessed on July 23, 2021).
Garbern JY. Leukodystrophies. In: Neurogenetics: Clinical and Scientific Advances, Lynch DR (Ed), Taylor and Francis, New York 2005. p.469.
Barkovich AJ. Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis 2005; 28:311.
Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 1979; 3:155.
van der Knaap MS, Naidu S, Pouwels PJ, et al. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol 2002; 23:1466.
Zara F, Biancheri R, Bruno C, et al. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet 2006; 38:1111.
La Piana R, Tonduti D, Gordish Dressman H, et al. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol 2014; 29:214.
Aula P, Autio S, Raivio KO, et al. "Salla disease": a new lysosomal storage disorder. Arch Neurol 1979; 36:88.Mahammad S, Murthy SP, Didonna A, et al. Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest. 2013;123 (5):1964–1975.
Gustavson KH, Hagberg B. The incidence and genetics of metachromatic leucodystrophy in northern Sweden. Acta Paediatr Scand 1971; 60:585.
Jeworutzki E, López-Hernández T, Capdevila-Nortes X, et al. GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl− channel auxiliary subunit. Neuron. 2012;73(5):951–961.
Singh N, Bixby C, Etienne D, et al. Alexander's disease: reassessment of a neonatal form. Childs Nerv Syst 2012; 28:2029.Gazzerro E, Baldassari S, Giacomini C, et al. Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. PLoS One. 2012;7(3):e32180.
Martidis A, Yee RD, Azzarelli B, Biller J. Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease. Arch Ophthalmol 1999; 117:265.van der Voorn JP, Kamphorst W, van der Knaap MS, et al. The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction. Acta Neuropathol. 2004;107(6):539–545.
Garbern JY. Leukodystrophies. In: Neurogenetics: Clinical and Scientific Advances, Lynch DR (Ed), Taylor and Francis, New York 2005. p.469.
Russo LS Jr, Aron A, Anderson PJ. Alexander's disease: a report and reappraisal. Neurology 1976; 26:607.
Srivastava S, Waldman A, Naidu S. Alexander disease. 2002 Nov 15 [Updated 2020 Nov 12]. In: GeneReviews [Internet], Adam MP, Ardinger HH, Pagon RA, et al. (Eds), University of Washington, Seattle 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1172/ (Accessed on July 26, 2021).
van der Knaap MS, Naidu S, Breiter SN, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001; 22:541.
Brockmann K, Dechent P, Meins M, et al. Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol 2003; 250:300.
Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Krabbe disease. In: GeneReviews [Internet], Adam MP, Ardinger HH, Pagon RA, et al. (Eds), University of Washington, Seattle 2018. www.ncbi.nlm.nih.gov/books/NBK1238/ (Accessed on July 09, 2020).
Duffner PK, Barczykowski A, Jalal K, et al. Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. Pediatr Neurol 2011; 45:141.
Bascou N, DeRenzo A, Poe MD, Escolar ML. A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. Orphanet J Rare Dis 2018; 13:126.
Rafi MA, Luzi P, Chen YQ, Wenger DA. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum Mol Genet 1995; 4:1285.Waldman AT. Leukodystrophies. Continuum. 2018;24(1):130–149.
Beslow LA, Schwartz ES, Bönnemann CG. Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. Pediatr Radiol 2008; 38:694.
Miller RG, Gutmann L, Lewis RA, Sumner AJ. Acquired versus familial demyelinative neuropathies in children. Muscle Nerve 1985; 8:205.Freeman SH, Hyman BT, Sims KB, et al. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol. 2009;19(1):39–47.
Komatsuzaki S, Zielonka M, Mountford WK, et al. Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases. Genet Med 2019; 21:2208.
Moser HW, Moser AB. Peroxisomal disorders: overview. Ann N Y Acad Sci 1996; 804:427.
Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993; 361:726.
van Roermund CW, Visser WF, Ijlst L, et al. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J 2008; 22:4201.
Raymond GV, Moser AB, Fatemi, A. X-linked adrenoleukodystrophy. In GeneReviews (Last updated February 15, 2018). Available at: https://www.ncbi.nlm.nih.gov/books/NBK1315/ (Accessed on June 20, 2018).
van Geel BM, Bezman L, Loes DJ, et al. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol 2001; 49:186.Koob M, Rousseau F, Laugel V, et al. Cockayne syndrome: a diffusion tensor imaging and volumetric study. Br J Radiol. 2016;89 (1067):20151033.
Moser HW, Moser AB, Smith KD, et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 1992; 15:645.
Dubey P, Fatemi A, Barker PB, et al. Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy. Neurology 2005; 64:304.
Mahmood A, Dubey P, Moser HW, Moser A. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant 2005; 9 Suppl 7:55.
Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104:881.
Kemp S, Huffnagel IC, Linthorst GE, et al. Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol 2016; 12:606.
Cosma MP, Pepe S, Annunziata I, et al. (2003) The multiple sulphatase deficiency gene encodes an essential and limiting factor for the activity of sulphatases. Cell 113: 445–56
Victoria San Antonio Arce JCP, Alexis Arzimanoglou and Robert Ouvrier. Aicardi’s Diseases of the Nervous System in Childhood. Arzimanoglou A, editor: Mac Keith Press; 2018
Kaul R, Gao GP, Balamurugan K, Matalon R (1993) Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet 5: 118–23
Grodd W, Krageloh-Mann I, Petersen D, et al. (1990) In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan’s disease) by proton spectroscopy. Lancet 336: 437–8.
Topçu M, Saatci L, Topcuoglu MA, et al. (1998) Megalencephaly and leukodystrophy with mild clinical course: a report of 12 new cases. Brain Dev 20: 142–53.
Bomont P, Cavalier L, Blondeau F, et al. (2000) The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 26: 370–4.
Tazir M, Nouioua S, Magy L, et al. (2009) Phenotypic variability in giant axonal neuropathy. Neuromusc Disord 19: 270–4
Lebon P, Badoual J, Ponsot G, et al. (1988) Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sciences 84: 201–8.
Crow YJ, Hayward BE, Parmar R, et al. (2006a) Mutations in the gene encoding the 3-prime-5-prime DNA exonuclease TREX1 cause Aicardi–Goutières syndrome at the AGS1 locus. Nat Genet 38: 917–20.
Crow YJ, Leitch A, Hayward BE, et al. (2006b) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi–Goutières syndrome and mimic congenital viral brain infection. Nat Genet 38: 910–16.
Haaxma CA, Crow YJ, van Steensel MA, et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi–Goutières syndrome. Am J Med Genet 152A: 2612–17.
Rice GI, Bond J, Asipu A, et al. (2009) Mutations involved in Aicardi–Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 41: 829–32
Rice GI, Kasher PR, Forte GM, et al. (2012) Mutations in ADAR1 cause Aicardi–Goutières syndrome associated with a type I interferon signature. Nat Genet 44: 1243–8.
Rice GI, del Toro Duany Y, Jenkinson EM, et al. (2014) Gain-offunction mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet 46: 503–9.
Aghili M, Zahedi F, Rafiee E (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 91: 233–6.
