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İÇAĞASIOĞLU, DİLARA FÜSUN

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DİLARA FÜSUN
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İÇAĞASIOĞLU
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    PublicationOpen Access
    PATIENT WITH INTERMITTENT POSTURE ABNORMALITY: AN ALEXANDER DISEASE CASE REPORT
    (2019-06-01T00:00:00Z) İÇAĞASIOĞLU, Dilara Füsun; İŞCAN, AKIN; ARALAŞMAK, Ayşe; NURSOY, HATİCE; YEŞİL, Gözde; AYDIN, NİHAL; Sahin, Seyma Sonmez; İÇAĞASIOĞLU, DİLARA FÜSUN; İŞCAN, AKIN; ARALAŞMAK, AYŞE; NURSOY, HATİCE; YEŞİL, GÖZDE; AYDIN, NİHAL
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    PublicationOpen Access
    Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
    (2018-07-01) İÇAĞASIOĞLU, DİLARA FÜSUN; YEŞİL, GÖZDE; ARALAŞMAK, AYŞE; AKYÜZ, ENES; İÇAĞASIOĞLU, DİLARA FÜSUN
    Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. Case report: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy. Conclusion: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.
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    PublicationOpen 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 FÜSUN
    Mitochondrial 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.