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7706G˃A missense mutasyonuna sahip ilk yaşayan yenidoğan olgusu: Alpers-Huttenlocher sendromu

Yıl 2022, Cilt: 47 Sayı: 4, 1780 - 1783, 28.12.2022
https://doi.org/10.17826/cumj.1170135

Öz

Alpers-Huttenlocher sendromu (AHS) nadir görülen otozomal resesif mitokondriyal DNA deplesyonu hastalığıdır. İlerleyici gelişimsel gerileme, karaciğer dejenerasyonu ve nöbetlerden oluşan klasik klinik triad, bozukluğu tanımlamaya yardımcı olur, ancak çok çeşitli klinik tablolar ortaya çıkabilir. Çocukluk çağında en yaygın mutasyonlar sitokrom c oksidaz Ⅰ ve Ⅳ genlerinde tanımlanmıştır. Cox Ⅱ genindeki 7706G˃A missense mutasyonu daha önce postmortem histolojik çalışma sonrasında bir olguda bildirilmiştir. Sonuç olarak, bizim hastamız Cox Ⅱ geninde 7706G˃A missense mutasyonu olan ve hayattayken AHS tanısı konulan ilk hastadır. 7706G˃A missense mutasyonunun nadir olduğunu ve Alpers-Huttenlocher sendromuna neden olan diğer mutasyonlardan daha ölümcül olabileceğini düşünmekteyiz.

Kaynakça

  • 1. Alpers BJ. Dıffuse progressıve degeneratıon of the gray matter of the cerebrum. Arch Neurol Psychiatry. 1931 Mar 1;25(3):469–505.
  • 2. Huttenlocher PR, Solitare GB, Adams G. Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol. 1976;33(3):186–92.
  • 3. Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain. 2005 Apr;128(Pt 4):723–31.
  • 4. Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, et al. A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease. Pediatrics. 2003;111(3).
  • 5. Frydman M, Jager-Roman E, DeVries L, Stoltenburg-Didinger G, Nussinovitch M, Sirota L. Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome. Am J Med Genet. 1993;47(1):31–6.
  • 6. Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Alpers-Huttenlocher syndrome. Pediatr Neurol. 2013 Mar;48(3):167–78.
  • 7. El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr 1;10(2):186–98.
  • 8. Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM. Infantile-onset disorders of mitochondrial replication and protein synthesis. J Child Neurol. 2011 Jul;26(7):866–75.
  • 9. Nguyen K V., Sharief FS, Chan SSL, Copeland WC, Naviaux RK. Molecular diagnosis of Alpers syndrome. J Hepatol. 2006 Jul;45(1):108–16.
  • 10. Lin DDM, Crawford TO, Barker PB, Morgan RH, Lin DM, Hopkins J. Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease. AJNR Am J Neuroradiol. 2003 Jan;24(1):33.
  • 11. Flemming K, Ulmer S, Duisberg B, Hahn A, Jansen O. MR Spectroscopic Findings in a Case of Alpers-Huttenlocher Syndrome. AJNR Am J Neuroradiol. 2002 Sep;23(8):1421.

The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome

Yıl 2022, Cilt: 47 Sayı: 4, 1780 - 1783, 28.12.2022
https://doi.org/10.17826/cumj.1170135

Öz

Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range of clinical expressions occur. The most common mutations in childhood have been identified in the cytochrome c oxidase Ⅰ and Ⅳ genes. The 7706G˃A missense mutation in the Cox Ⅱ gene was previously reported in one case after postmortem histological study. Consequently, our patient is the first patient diagnosed with AHS with a 7706G˃A missense mutation in the Cox Ⅱ gene while alive. We proposed that 7706G˃A missense mutation is rare and should be more lethal than other mutations that cause Alpers-Huttenlocher syndrome.

Kaynakça

  • 1. Alpers BJ. Dıffuse progressıve degeneratıon of the gray matter of the cerebrum. Arch Neurol Psychiatry. 1931 Mar 1;25(3):469–505.
  • 2. Huttenlocher PR, Solitare GB, Adams G. Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol. 1976;33(3):186–92.
  • 3. Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain. 2005 Apr;128(Pt 4):723–31.
  • 4. Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, et al. A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease. Pediatrics. 2003;111(3).
  • 5. Frydman M, Jager-Roman E, DeVries L, Stoltenburg-Didinger G, Nussinovitch M, Sirota L. Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome. Am J Med Genet. 1993;47(1):31–6.
  • 6. Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Alpers-Huttenlocher syndrome. Pediatr Neurol. 2013 Mar;48(3):167–78.
  • 7. El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr 1;10(2):186–98.
  • 8. Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM. Infantile-onset disorders of mitochondrial replication and protein synthesis. J Child Neurol. 2011 Jul;26(7):866–75.
  • 9. Nguyen K V., Sharief FS, Chan SSL, Copeland WC, Naviaux RK. Molecular diagnosis of Alpers syndrome. J Hepatol. 2006 Jul;45(1):108–16.
  • 10. Lin DDM, Crawford TO, Barker PB, Morgan RH, Lin DM, Hopkins J. Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease. AJNR Am J Neuroradiol. 2003 Jan;24(1):33.
  • 11. Flemming K, Ulmer S, Duisberg B, Hahn A, Jansen O. MR Spectroscopic Findings in a Case of Alpers-Huttenlocher Syndrome. AJNR Am J Neuroradiol. 2002 Sep;23(8):1421.
Toplam 11 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri
Bölüm Editöre Mektup
Yazarlar

Mustafa Özdemir 0000-0001-5644-8283

Şerif Hamitoğlu 0000-0002-9904-3427

Ferda Özlü 0000-0002-2092-8426

Hacer Yapıcıoğlu 0000-0001-6295-553X

Gülen Gül Mert 0000-0002-1160-5617

Mehmet Satar 0000-0002-5718-0503

Yayımlanma Tarihi 28 Aralık 2022
Kabul Tarihi 16 Kasım 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 47 Sayı: 4

Kaynak Göster

MLA Özdemir, Mustafa vd. “The First Living Newborn Case With 7706G˃A Missense Mutation: Alpers-Huttenlocher Syndrome”. Cukurova Medical Journal, c. 47, sy. 4, 2022, ss. 1780-3, doi:10.17826/cumj.1170135.