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Dergiler / Cyprus Journal of Medical Sciences / 2018 / Cilt: 3 - Sayı: 1

Canavan Disease: First Normocephalic Case from North Cyprus

Mehmet Alp DİRİK
Burcin ŞANLIDAĞ
NAİL BULAKBAŞI
Nedime SEKAKINCI
Eray DİRİK
Sayfa
33–35
DOI
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Yapay Zeka Hızlı Bakış & Çıkarımlar

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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

During follow-ups, the child was normocephalic, even at the 1 year visit.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Canavan disease is an autosomal recessively inherited leukodystrophy characterized by white matter degeneration.
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Temel Bulgular & Veri:A 6 month-old patient presented with developmental delay and normocephaly.
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Sonuç & Katkı:During follow-ups, the child was normocephalic, even at the 1 year visit.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Canavan disease is an autosomal recessively inherited leukodystrophy characterized by white matter degeneration. The defective gene is the aspartoacylase gene that encodes the enzyme aspartoacylase. Head lag, macrocephaly, and hypotonia are the primary characteristic physical examination findings. A 6 month-old patient presented with developmental delay and normocephaly. Brain magnetic resonance imaging showed delayed myelinization at the corpus callosum, genu of the internal capsule, and posterior limb and hyperintensity of the globus pallidus, thalamus, dorsal aspect of the brain stem, corticospinal tract, and cerebellum. Magnetic resonance spectroscopy demonstrated a prominent N-acetyl aspartate peak, which is a typical pathological finding. Genetic testing revealed the presence of a homozygous c.79, G>A (p.G27R) mutation, which confirmed the diagnosis of Canavan disease. During follow-ups, the child was normocephalic, even at the 1 year visit.

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Bu Makaleye Atıf Yap

DİRİK, M. A., ŞANLIDAĞ, B., BULAKBAŞI, N., SEKAKINCI, N., DİRİK, E. (2018). Canavan Disease: First Normocephalic Case from North Cyprus. Cyprus Journal of Medical Sciences, Cilt: 3 - Sayı: 1, 33–35. https://ajindex.com/articles/156892

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Kaynakça (14)

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