Hipotonik İnfant
Özet
Hipotoni, beyin, spinal kord, periferik sinirler veya kaslardaki nörolojik disfonksiyon sonucu gelişen bir semptomdur. Klinik yaklaşımda santral ve periferik kaynaklı hipotoni ayrımını yapmak; doğru tedavi planı, komplikasyon yönetimi ve genetik danışmanlık için hayati öneme sahiptir. Tanı süreci; detaylı öykü ve fizik muayenenin ardından laboratuvar testleri, görüntüleme yöntemleri ve genetik analizlerin sistematik kullanımıyla yürütülür. Erken ve doğru teşhis, gereksiz araştırmaları engelleyerek hasta yönetimini optimize eder.
Hypotonia is a symptom resulting from neurological dysfunction involving the brain, spinal cord, peripheral nerves, or muscles. A systematic clinical evaluation, focusing on differentiating between central and peripheral causes, is vital for effective management, genetic counseling, and targeted therapy. The diagnostic process integrates detailed clinical assessment with laboratory testing, neuroimaging, and genetic analysis to identify the underlying etiology. Accurate and timely diagnosis prevents unnecessary investigations and ensures optimal care for affected infants.
Referanslar
Nimmo GAM CR. The Floppy Infant. In: Swaiman KF, Aswal S, Ferriero DM, Schor NF, Finkel RS, Gropman Al, Pearl Pl SM, ed. Swaiman’s Pediatric Neurology. Principles and Practice. Sixth Ed. Elsevier Saunders, UK/USA; 2017:1051-1056.
J. Eric Piña-Garza Kaitlin C. James. The Hypotonic Infant. In: Fenichel’s Clinical Pediatric Neurology 8th Edition A Signs and Symptoms Approach. Elsevier; 2019:150-171.
Harris SR. Congenital hypotonia: Clinical and developmental assessment. Dev Med Child Neurol. 2008;50(12):889-892. doi:10.1111/j.1469-8749.2008.03097.x
Igarashi M. Floppy Infant Syndrome. J Clin Neuromuscul Dis. 2004;6(2). https://journals.lww.com/jcnmd/Fulltext/2004/12000/Floppy_Infant_Syndrome.3.aspx
Kumandas S. Hipotonik Infantta Etyoloji ve Klinik Bulgular. Guncel Pediatr. 2007;(5):85-87.
Jan MMS. The hypotonic infant: Clinical approach. J Pediatr Neurol. 2007;5(3):181-187. doi:10.1055/s-0035-1557381
Bayram E, İş UY, Kurul SHIZ. Hipotonik İnfant : Klinik Ve Etiyolojik Değerlendirme. 2012;(1):219-228.
Peredo DE, Hannibal MC. The Floppy Infant : Evaluation of Hypotonia. 2014;30(9).
Kaler J, Hussain A, Patel S, Majhi S. Neuromuscular Junction Disorders and Floppy Infant Syndrome: A Comprehensive Review. Cureus. 2020;12(2). doi:10.7759/cureus.6922
Prasad AN, Prasad C. Genetic evaluation of the floppy infant. Semin Fetal Neonatal Med. 2011;16(2):99-108. doi:https://doi.org/10.1016/j.siny.2010.11.002
Kaur J, Punia S. Floppy Infant Syndrome: Overview. Int J Physiother Res. 2016;4(3):1554-1563. doi:10.16965/ijpr.2016.134
Ölmez A, Topaloglu H. Hipotonik Bebek. In: Kalbiye Yalaz, ed. Temel Gelişimsel Çocuk Nörolojisi. 3. Baskı. Hipokrat Yayıncılık; 2021:281-290. isbn: 978-625-7399-13-5
Gerald M. Fenichel. Clinical pediatric neurology: a signs and symptoms approach. In: Gerald M. Fenichel, ed. Clinical Pediatric Neurology. 6rd ed. Elsevier Health Sciences; 2009:153–176.
Walk D. Clinical handbook of neuromuscular medicine. Clin Handb Neuromuscul Med. Published online 2018:1-220. doi:10.1007/978-3-319-67116-1
Pérez IST, Vergara ACZ. Initial Approach Hypotonic Syndrome. Floppy Infant”” EC Neurol. 2018;10:720-726.
Leyenaar JA, Camfield P, Camfield C. A schematic approach to hypotonia in infancy. Paediatr Child Health (Oxford). 2005;10(7):397-400. doi:10.1093/pch/10.7.397
Ferrière G, Guzzetta F, Kulakowski S, Evrard P. Nonprogressive Type II Hereditary Sensory Autonomic Neuropathy: A Homogeneous Clinicopathologic Entity. J Child Neurol. 1992;7(4):364-370. doi:10.1177/088307389200700406
Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008;15(1):10-20. doi:10.1016/j.spen.2008.01.003
Amiel-Tison C, Maillard F, Lebrun F, Bréart G, Papiernik E. Neurological and physical maturation in normal growth singletons from 37 to 41 weeks’ gestation. Early Hum Dev. 1999;54(2):145-156. doi:10.1016/S0378-3782(98)00087-5
Apak S, Özmen M. Yenidoğanın Gelişim Nörolojisi. In: Selçuk Apak, ed. Gelişim Nörolojisi. 2. baskı. Bayrak; 1989:95-161.
Yapıcı Z. Çocukta Nörolojik Gelişim ve Muayeneye Genel Bakış. In: Oge E, Baykan B. Sinir Sistemi Semiyolojisi. İkinci Bas. ; 2011:117-125.
Tatlı B, Özmen M. Yenidoğan Nörolojik Muayenesi. In: Tatlı Burak ÖM, ed. Yenidoğan Nörolojisi. Nobel Tıp Kıtabevleri; 2017:7-18.
Chae JH. Floppy Infant Syndrome. Int Neurol A Clin Approach. 2010;38105:596-599. doi:10.1002/9781444317008.ch156
Mercuri E, Pera MC, Brogna C. Chapter 21 - Neonatal hypotonia and neuromuscular conditions. In: de Vries LS, Glass HCBT-H of CN, eds. Neonatal Neurology. Vol 162. Elsevier; 2019:435-448. doi:https://doi.org/10.1016/B978-0-444-64029-1.00021-7
Prasad AN, Prasad C. The floppy infant: Contribution of genetic and metabolic disorders. Brain Dev. 2003;25(7):457-476. doi:10.1016/S0387-7604(03)00066-4
Kumandas S, Gumus H. Hipotonik İnfant. In: Gokcay E, Sönmez M, Topaloğlu H, Tekgül H, Gurer YKY, ed. Türkiye Çocuk Nöroloji Derneği Çocuk Nörolojisi. İkinci Bas. Anıl Grup Matbaacılık; 2010:475-482.
Hartley L, Ranjan R. Evaluation of the floppy infant. Paediatr Child Heal (United Kingdom). 2015;25(11):498-504. doi:10.1016/j.paed.2015.07.004
Jain RK, Jayawant S. Evaluation of the floppy infant. Paediatr Child Health (Oxford). 2011;21(11):495-500. doi:10.1016/j.paed.2011.06.002
Tirado Pérez IS; Vergara Zárate AC. Initial Approach Hypotonic Syndrome “Floppy Infant.” EC Neurol. 2018;10(8):720-726. doi:10.1016/ec.neurology.2018.10.007
Paro-Panjan D, Neubauer D. Congenital hypotonia: is there an algorithm? J Child Neurol. 2004;19(6):439-442. doi:10.1177/088307380401900608
Richer LP, Shevell MI, Miller SP. Diagnostic profile of neonatal hypotonia: An 11-year study. Pediatr Neurol. 2001;25(1):32-37. doi:10.1016/S0887-8994(01)00277-6
Convertino I, Sansone AC, Marino A, et al. Neonatal Adaptation Issues After Maternal Exposure to Prescription Drugs: Withdrawal Syndromes and Residual Pharmacological Effects. Drug Saf. 2016;39(10):903-924. doi:10.1007/s40264-016-0435-8
Fenichel GM. Clinical Pediatric Neurology: A Signs and Symptoms Approach. Saunders/Elsevier; 2009. https://books.google.co.in/books?id=uRg-cYkTT1AC
Jędrzejowska M. Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy. Degener Neurol Neuromuscul Dis. 2020;10:39-47. doi:10.2147/DNND.S246907
Iannaccone ST. Spinal muscular atrophy. Int Pediatr. 1998;13(2):90-93.
Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. doi:10.1177/0883073807305788
Bharucha-Goebel D, Kaufmann P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep. 2017;17(11):1-7. doi:10.1007/s11910-017-0798-y
Monani UR, Sendtner M, Coovert DD, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet. 2000;9(3):333-339. doi:10.1093/hmg/9.3.333
Kolb SJ, Professor A, Kissel JT. Spinal Muscular Atrophy. doi:10.1016/j.ncl.2015.07.004
Aguerre V, De Castro F, Mozzoni J, Gravina LP, Araoz H V., Monges S. Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children. J Neuromuscul Dis. 2020;7(4):453-458. doi:10.3233/JND-200508
Mph JL, Frcpc PC, Frcpc CC. N Eurology S Ubspecialty a Rticle. Heal (San Fr. 2005;10(7):397-400.
Catteruccia M, Vuillerot C, Vaugier I, et al. Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children. J Neuromuscul Dis. 2015;2(4):453-462. doi:10.3233/JND-150084
Salort-Campana E, Quijano-Roy S. Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease). Arch Pediatr. 2020;27(7):7S23-7S28. doi:10.1016/S0929-693X(20)30273-6
Kolb SJ, Coffey CS, Yankey JW, et al. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017;82(6):883-891. doi:10.1002/ana.25101
Grohmann K, Schuelke M, Diers A, et al. Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. 2001;29(1):75-77. doi:10.1038/ng703
Grohmann K, Varon R, Stolz P, et al. Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1). Ann Neurol. 2003;54(6). doi:10.1002/ana.10755
Plante-Bordeneuve V, Said G. Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy. Muscle and Nerve. 2002;26(5):608-621. doi:10.1002/mus.10197
Cherington M. Botulism: Update and review. Semin Neurol. 2004;24(2):155-163. doi:10.1055/s-2004-830901
Finsterer J. Congenital myasthenic syndromes. Orphanet J Rare Dis. 2019;14(1):57. doi:10.1186/s13023-019-1025-5
Yis U, Topaloglu H. Konjenital Miyopatiler. In: Gökcay Erdal, Sönmez Müjgan, Topaloglu Haluk, Tekgül Hasan GYY, ed. Çocuk Nörolojisi. İkinci Bas. Anıl Grup Matbaacılık; 2010:503-508.
Monnier N, Lunardi J. [Biology of malignant hyperthermia: a disease of the calcium channels of the skeletal muscle]. Ann Biol Clin (Paris). 2000;58(2):147-156.
Tubridy N, Fontaine B, Eymard B. Congenital myopathies and congenital muscular dystrophies. Curr Opin Neurol. 2001;14(5):575-582. doi:10.1097/00019052-200110000-00005
Fujimura-Kiyono C, Racz G, Nishino I. Myotubular/centronuclear myopathy and central core disease. Neurol India. 2008;56(3). doi:10.4103/0028-3886.43451
Kishnani PS, Austin SL, Arn P, et al. Glycogen Storage Disease Type III diagnosis and management guidelines. Genet Med. 2010;12(7):446-463. doi:10.1097/GIM.0b013e3181e655b6
Premasiri MK, Lee YS. The myopathology of floppy and hypotonic infants in Singapore. Pathology. 2003;35(5):409-413. doi:10.1080/00313020310001602648
Plantone D, Pardini M, Rinaldi G. Riboflavin in Neurological Diseases: A Narrative Review. Clin Drug Investig. 2021;41(6):513-527. doi:10.1007/s40261-021-01038-1
Pérez IST, Vergara ACZ. Initial Approach Hypotonic Syndrome. Floppy Infant”” EC Neurol. 2018;10(July):720-726. doi:10.1016/ec.neurology.2018.10.007
