Person: İÇAĞASIOĞLU, DİLARA FÜSUN
3 results
Search Results
Now showing 1 - 3 of 3
Publication Metadata only Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome(2023-01-01) Aksu Uzunhan T.; Ertürk B.; Aydın K.; Ayaz A.; Altunoğlu U.; Yarar M. H.; Gezdirici A.; İÇAĞASIOĞLU D. F.; Gökpınar İli E.; UYANIK B.; et al.; İÇAĞASIOĞLU, DİLARA FÜSUN; UYANIK, BÜLENT© 2022 Elsevier B.V.Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber\"s congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.Publication Metadata only TEMEL PEDİATRİK NÖROLOJİ TAI VE TEDAVİ /EPİLEPSİNİN ETİYOLOJİSİ VE RİSK FAKTÖRLERİ(Akademisyen Yayınevi Kitabevi, 2022-10-01) İçağasıoğlu D. F.; İÇAĞASIOĞLU, DİLARA FÜSUNPublication Open Access First Case of MELAS Syndrome Presenting with Local Brain Edema Requiring Decompressive Craniectomy(2022-01-01T00:00:00Z) YEŞİLBAŞ, OSMAN; ŞENGENÇ, ESMA; Olbak, Melike Ersoy; Bako, Derya; Nizam, Oznur Gokce; SEYİTHANOĞLU, MEHMET HAKAN; Pehlivan, Davut; Ceylaner, Serdar; Icagasioglu, Dilara; Aydin, Kursad; ŞENGENÇ, ESMA; SEYİTHANOĞLU, MEHMET HAKAN; İÇAĞASIOĞLU, DİLARA FÜSUNMitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder. Although patients with MELAS present a variable clinical profile, stroke like lesions have been detected in 90% of cases, with stroke being the first presenting symptom in 25% of cases. However, cases of local brain edema requiring decompressive craniectomy has not been reported. A 12-year-old male patient was admitted to our pediatric intensive care unit with altered mental status, seizures, and vision loss. The patient was stuporous and presented neck stiffness. Complete blood count, serum electrolytes, biochemistry (including lactate level), acute phase reactants, and repeated blood gas analysis were unremarkable. Brain magnetic resonance imaging (MRI) revealed an edematous stroke-like lesion in the right occipital lobe accompanied by brain swelling. Intravenous ceftriaxone, acyclovir, intravenous immunoglobulin (IVIG), and pulse steroid therapy were started for possible diagnosis of viral/bacterial/autoimmune encephalitis; levetiracetam, phenytoin, and an infusion of sodium thiopental were started for refractory status epilepticus; and a 3% NaCl infusion was started for local brain edema. The results of serum autoimmune encephalitis panel were negative. Further investigations for rheumatic, vascular, and metabolic disorders were unremarkable. Despite these supportive treatments, the patient was clinically decompensated due to brain swelling that progressed to the left midline shift, and he underwent decompressive craniectomy. Histologic examination of brain biopsy specimen revealed non-specific encephalitis findings. A pathogenic variant of the MT-TL1 gene (m.3243A>T), responsible for MELAS, was detected. The patient-s condition dramatically improved after specific treatment for MELAS. If the diagnosis and treatment are delayed, MELAS syndrome can cause serious brain edema, which may ultimately require decompressive craniectomy.