KLEEFSTRA SYNDROME: NEW MOLAR TOOTH SIGN OF MID- BRAIN?

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YAZOL M., ÖZTUNALI Ç., GÜMÜŞ E., ÖZER H.

EUROPEAN SOCIETY OF NEURORADIOLOGY Diagnostic and Interventional42 nd ANNUAL MEETING, Oslo, Norveç, 18 - 22 Eylül 2019, sa.1 identifier

  • Yayın Türü: Bildiri / Özet Bildiri
  • Doi Numarası: 10.1007/s00234-019-02263-4
  • Basıldığı Şehir: Oslo
  • Basıldığı Ülke: Norveç
  • Gazi Üniversitesi Adresli: Evet

Özet

Kleefstra syndrome (KS) is a rare genetic condition with autoso-mal dominant inheritance characterized by intellectual disability(ID), autistic-like features, childhood hypotonia, and distinctive facial features. The diagnosis of KS is established on by eithera mutation in the (EHMT1) gene (rarely) or by a microdeletion inthe 9q34.3. Currently, brain abnormalities are reported in half ofKS subjects and include white matter abnormalities, cortical atro-phy, corpus callosum(CC) hypoplasia. To date, approximately 114cases have been described. We herein report 3 novel cases from asingle family that presented with severe ID and speech delay,aggressive behavioral problems and discuss the differences andsimilarities in their neuroimaging features. Furthermore, we deter-mine a novel radiological finding for this condition“Molar ToothSign”that considered as a pathognomonic sign in JoubertSyndrome and Related Disorders (JSRD)