Optic disc drusen mimicking papilledema in an infant with Joubert syndrome
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Editions Medecine et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome: Joubert Syndrome is a rare autosomal recessive disorder characterized by absence or underdevelopment of the cerebellar vermis. Various ocular and oculomotor findings are frequently seen in cases with Joubert Syndrome. However, only three adolescent patients with Joubert Syndrome were diagnosed with optic disc drusen. Here we present an infant case of Joubert Syndrome referred with papilledema and diagnosed with optic disc drusen.
Açıklama
Anahtar Kelimeler
Infant, Joubert syndrome, Optic disc drusen, Pseudopapilledema
Kaynak
Genetic Counseling
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
26
Sayı
1
