35 S. YILMAZ, JOUBERT SYNDROME WITH OPTIC DISC DRUSEN GENETIC COUNSELING, Vol. 26, No 1, 2015, pp 35-39 OPTIC DISC DRUSEN MIMICKING PAPILLEDEMA IN AN INFANT WITH JOUBERT SYNDROME BY S. YILMAZ 1 , E. DEMIRKILINC BILER 2 , A. ECE SOLMAZ 3 , G. SERDAROGLU 1 , H. GAZETECI TEKIN 1 AND S. GOKBEN 1 1) Ege University Medical Faculty, Department Of Pediatrics, Division of Child Neurology, Izmir, Turkey. (2) Ege University Medical Faculty, Department Of Ophthalmology, Izmir, Turkey. (3) Ege University Medical Faculty, Department Of Genetics, Izmir, Turkey. INTRODUCTION Joubert syndrome was irstly described by Dr. Joubert in 1969 (5). Its frequency ranges from 1/80.000 to 1/100.000 (2). The most common symptoms include hypotonia, developmental delay and ‘molar tooth sign’ found on cranial magnetic resonance imaging (6). Ocular and oculomotor indings are common in Joubert syndrome including reti- nal coloboma, retinal dystrophy, oculomotor apraxia as well as severe vision loss, pendular nystagmus, pigmentation changes in fundus and vestibulo-ocular relex latency (9). Optic disc drusen are uncommon congenital disc anomalies composed of hyaline material and calciied deposits which accumulate gradually over time and rarely begin in early childhood. Optic disc drusens are a common cause of pseudopapilledema and diagnosis is often challen- ging. Although some ocular indings have often been reported in cases with the Joubert Syndrome, there are only three cases we know in lit- erature reported its coexistence with optic disc drusen (1, 7). Summary: 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 indings 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. Key-words: Infant – Joubert syndrome – Optic disc drusen – Pseudopapilledema.