Yenidoğanlarda Galaktozemi Tanısında Proton Manyetik Rezonans Spektroskopisinin Yeri

Yıl 2024, Cilt: 50 Sayı: 3, 561 - 563, 12.01.2025

Salih Çağrı Çakır , Cengiz Gökhan Orcan , Bayram Ali Dorum , Hilal Özkan , Nilgün Köksal , Sevil Yıldız , Şahin Erdöl

https://doi.org/10.32708/uutfd.1563492

Öz

Klasik galaktozemi, galaktozeminin en sık görülen formu olup, galaktoz-1-fosfat uridil transferaz enziminin kalıtsal eksikliğinden kaynaklanan bir galaktoz metabolizması bozukluğudur. Galaktoz kısıtlaması olmayan hastaların dokularında galaktoz ve metabolitlerinin birikmesi nedeniyle yenidoğan döneminde yaşamı tehdit eden toksik semptomlar ve beyin ödemi ortaya çıkar. Beyinde biriken bu toksik maddelerden galaktitol, Manyetik Rezonans Spektroskopisi'nde (MRS) anormal pikler olarak tespit edilir. Beyin MRS'de galaktitol piki ile galaktozemi tanısı konulan 22 günlük bir yenidoğan olgusunu raporladık. Beyin MRS, galaktozemi hastalarının erken tanısı için değerli bir yöntemdir.

Anahtar Kelimeler

Galaktozemi, proton manyetik rezonans spektroskopisi, yenidoğan

The Role of Proton Magnetic Resonance Spectroscopy in the Diagnosis of Galactosemia in Neonates

Öz

Classic galactosemia, the most common form of galactosemia, is a disorder of galactose metabolism caused by the hereditary deficiency of the galactose-1-phosphate uridyl transferase (GALT) enzyme. Life-threatening toxic symptoms and brain edema occur during the neonatal period due to the accumulation of galactose and its metabolites in the tissues of patients without galactose restriction. Galactitol, a toxic substance that accumulates in the brain, is identified as abnormal peaks in Magnetic Resonance Spectroscopy (MRS). We have reported a 22-day-old galactosemic neonate diagnosed with a galactitol peak in brain MRS. Brain H-MRS is a valuable method for early diagnosis of galactosemia patients.

Anahtar Kelimeler

Galactosemia, proton magnetic resonance spectroscopy, newborn

Kaynakça

• 1. Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. 2006; 29 (4): 516–525.
• 2. Çelik M, Akdeniz O, Ozbek MN, Kirbiyik O. Neonatal classic galactosemia—diagnosis, clinical profile and molecular characteristics in unscreened Turkish population. J TropPediatr. 2022; 68(6): 1–8.
• 3. Rossi-Espagnet MC, Sudhakar S, Fontana E, et al.Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage. AJNR Am J Neuroradiol.2021; 42 (3): 590-596.
• 4. Cakmakci H, Pekcevik Y, Yis U, Unalp A, Kurul S. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature. Eur J Radiol. 2010; 74 (3): 161–171.
• 5. Berry GT, Walter JH, Fridovich-Keil JL. Disorders of galactose metabolism. Saudubray JM, Baumgartner MR, Garcia-CazorlaA, Walter J, editors. Inborn Metabolic Diseases: Diagnosis And Treatment. (7th ed). e-Book: Springer; 2022.p.315-325.
• 6. Quan-Ma R, Wells HJ, Wells WW, Sherman FE, Egan TJ. Galactitol in the tissues of a galactosemic child. Am J Dis Child. 1966; 112 (5): 477-478.
• 7. Berry GT, Hunter JV, Wang Z, et al. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. J Pediatr. 2001; 138 (2): 260–262.
• 8. Otaduy MCG, Leite CC, Lacerda MTC, et al. Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment. AJNR Am J Neuroradiol. 2006; 27 (1): 204–207.
• 9. Martinelli D, Bernardi B, Napolitano A, Colafati GS, Dionisi-Vici C. Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: too much sugar in the brain. Neurology. 2016; 86 (3): e32–e33.
• 10. Wang ZJ, Berry GT, Dreha SF, Zhao H, Segal S, ZimmermanRA. Proton magnetic resonance spectroscopy of brainmetabolites in galactosemia. Ann Neurol. 2001; 50 (2): 266–269.