Hypomyelination and congenital cataract: Three siblings presentation
Göster/ Aç
Erişim
info:eu-repo/semantics/openAccessAttribution-NonCommercial-ShareAlike 4.0 Internationalhttps://creativecommons.org/licenses/by-nc-sa/4.0/Tarih
2020Üst veri
Tüm öğe kaydını gösterKünye
Karalök, Z. S., Gürkaş E., Aydın, K. ve Ceylaner, S. (2020). Hypomyelination and congenital cataract: Three siblings presentation. Journal of Pediatric Neurosciences, 15(3), 270-273. https://dx.doi.org/10.4103/jpn.JPN_161_18Özet
Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. Brain magnetic resonance imaging (MRI) showed diffuse hypomyelination, whereas neurophysiological studies showed sensorimotor peripheral polyneuropathy. Cases with hypomyelination in MRI represent the largest group of undiagnosed diseases among patients with leukoencephalopathies. To diagnose cases with peripheral neuropathy, their clinical and neuroradiological findings must be identified. These findings can guide clinicians to appropriate molecular investigations.
Kaynak
Journal of Pediatric NeurosciencesCilt
15Sayı
3Koleksiyonlar
- Makale Koleksiyonu [3650]
- PubMed İndeksli Yayınlar Koleksiyonu [4048]
- WoS İndeksli Yayınlar Koleksiyonu [6432]