hrp0089p3-p221 | Growth & Syndromes P3 | ESPE2018

Two Siblings with Alström Syndrome

Cebeci Ayse Nurcan , Yesil Gozde , Ekici Baris

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

hrp0082p3-d1-875 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical Remission in a Patient with Congenital Hyperinsulinism due to Paternally Inherited Two Novel Mutations in KCJN11 Gene

Cebeci Ayse Nurcan , Houghton Jayne , Ellard Sian

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent and profound hypoglycemia in infants. There are two distinct histologic forms of CHI, diffuse and focal. The distinction between these forms is important in patients who fail medical therapy since surgical strategies may vary. Focal lesions occur due to paternally inherited recessive mutation in ABCC8 or KCJN11 genes with somatic loss of the maternal 11p15 region (paternal uniparental disomy). ...

hrp0084p3-663 | Bone | ESPE2015

Spondyloenchondrodysplasia with Immune Dysregulation and without Neurological Involvement: Report of Two Siblings with ACP5 Gene Mutation

Guven Ayla , Cebeci Ayse Nurcan , Crow Yanick

Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cereb...

hrp0082p3-d2-897 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Transient Neonatal Diabetes Mellitus: New Case

Hancili Suna , Guven Ayla , Akin Ilke Mungan , Cebeci Ayse Nurcan , Edwards Sian

Introduction: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of age. It is a rare condition occurring in only one in 100 000–300 000 live births. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM). TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24.Case Report: A 18-day-old male was referred from another clinic due to diabetic ketoaci...

hrp0082p2-d1-324 | Diabetes | ESPE2014

Two Novel Homozygous Mutations in WFS1 Gene in Two Turkish Families with Mild Phenotypic Expression of Wolfram Syndrome

Sherif Maha , Demirbilek Huseyin , Cayir Atilla , Ozbek Mehmet Nuri , Baran Riza Taner , Cebeci Ayse Nurcan , Tahir Sophia , Rahman Sofia , Dattani Mehul , Hussain Khalid

Background: Wolfram syndrome (WS or DIDMOAD) is a rare (prevalence of 1/770,000) autosomal recessive multi-systemic neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy. Additional features include diabetes insipidus (DI), sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness, and other endocrine disturbances leading to death in mid-adulthood. This syndrome is caused by recessive mutations in the wolfram...