Yazar "Havalı, Cengiz" için listeleme
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Acute necrotizing encephalopathy associated with RANBP2 mutation: Value of MRI findings for diagnosis and intervention
Sarıgeçili, Esra; Koç Uçar, Habibe; Havalı, Cengiz; Cansu, Ali; Aydın, Kürşad (Springer, 2023)Introduction: Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated ... -
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
Kamaşak, Tülay; Havalı, Cengiz; İnce, Hülya; Eyüboğlu, İlker; Çebi, Alper Han; Şahin, Sevim; Cansu, Ali; Aydın, Kürşad (Elsevier Sci Ltd, 2018)Background: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that ... -
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: Two different presentations
Dilber, Beril; Havalı, Cengiz; Eroǧlu, Nilgün; Aydın, Kürşad; Şahin, Sevim; Cansu, Ali (Springer, 2020)Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar ... -
Magnetic resonance imaging patterns of subacute sclerosing panencephalitis may mimic metabolic disorders: Clinical, electroencephalographic and imaging features of six cases
Arhan, Ebru; Akbaş, Yılmaz; Serdaroğlu, Ayşe; Çobanoğulları Direk, Meltem; Okuyaz, Çetin; Havalı, Cengiz; Aydın, Kürşad (Springer Heidelberg, 2021)Subacute sclerosing panencephalitis is a rare, devastating neurodegenerative encephalitis whose diagnosis and therapy are still in question. Atypical clinical presentation and heterogeneity of neuroimaging findings that ... -
MRI in CLN2 disease patients: Subtle features that support an early diagnosis
Aydın, Kürşad; Havalı, Cengiz; Kartal, Ayşe; Serdaroğlu, Ayşe; Haspolat, Şenay (Elsevier Science Ltd, 2020)Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive ...