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

Künye