Browsing by Author "Sezer, Taner"

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Clinical Spectrum of Ocular and Visual Dysfunction in Children with Periventricular Leukomalacia: A Need for an Interdisciplinary Approach
(2021) Ozturker, Zeynep Kayaarasi; Bayar, Sezin Akca; Oto, Sibel; Aksoy, Sibel; Akkoyun, Imren; Sezer, Taner; 0000-0001-5109-755X; 0000-0003-0171-4200; 0000-0003-1395-6207; 0000-0002-2860-7424; AAJ-2406-2021; AAJ-4668-2021; AAK-7713-2021
The study aimed to evaluate the ocular motility and visual and optic disc abnormalities in children diagnosed with periventricular leukomalacia (PVL). A retrospective analysis was performed on 51 consecutive children who had ophthalmic symptoms and were diagnosed with PVL by using magnetic resonance imaging. The patients were assessed for visual function, strabismus, cycloplegic refraction, fundus examination, and if appropriate, spectral-domain optical coherence tomography and visual field testing were applied. The primary outcome measures were the prevalence and visual and ocular motility dysfunctions. Mean age was 5.72 +/- 2.6 years (range = 1-12), median birth weight was 2,740 g (range =1,240-3,460), and median gestational age was 34 weeks (range = 28-38). In total, 21 patients (39.6%) had neurological deficit, 11 (21.5%) had intellectual disability, and 19 (37.2%) had no neurological symptom. In the spherical equivalent refractive error and cylinder power analysis, 10 patients had >= 3.0 D myopia, 15 had >= 3.0 D hyperopia, and eight had >= 2.50 D astigmatism. Thirteen (25.4%) children had a best-corrected visual acuity between 20/40 and 20/20 for Snellen card, while 9 (17.6%) had strabismic amblyopia and 6 (11.7%) had anisometropic amblyopia. Manifest strabismus was present in 35 patients (68.6%); of whom 12 had esotropia (23.5%), 16 had exotropia (31.3%) and 6 had vertical deviation (11.7%). Manifest or latent nystagmus was detected in 14 patients (27.4%). In 28 patients (54.9%), there was optic nerve abnormality. Two patients had hypoplastic disc, 14 had optic disc pallor, 7 had large cupping, and 5 had total optic atrophy. Six subjects underwent reliable visual field (VF) examinations, and all six had abnormal VFs, with inferior fields being most affected. Ocular motility disorders, optic nerve abnormalities, VF defects, and low visual acuity are common findings in this cohort of PVL patients and maybe the only presenting signs of the disease. The recognition of the visual disabilities and implementation of early rehabilitation may have a significant benefit in these children.
Çocuklarda dirençli epilepsi gelişimini belirleyen faktörler
(Başkent Üniversitesi Tıp Fakültesi, 2017) Önal, Esra; Sezer, Taner
Amaç: Dirençli epilepsi gelişme riski yüksek olan çocuk hastaların erken belirlenmesi, hastaların ve ailelerinin hazırlanması, seçilmiş hastalarda çoklu antiepileptik ilaç (AEİ) tedavilerinin uygulanması ve epilepsi cerrahisi açısından erken dönemde değerlendirilmesi açısından faydalı olacaktır. Biz bu çalışmada, dirençli epilepsi tanısıyla izlenen hasta grubumuzda dirençliliği belirleyen faktörleri incelemeyi amaçladık. Gereç ve Yöntem: Başkent Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Nöroloji Bilim Dalı Ankara polikliniğinde 2008-2016 yılları arasında, Uluslararası Epilepsi ile Savaş Derneği’nin kriterlerine göre dirençli epilepsi tanısı alan, yaşları 1-17 arasında olan 100 çocuk hasta ve aynı bölümde epilepsi tanısıyla takipli, nöbetleri ilaç tedavisi ile kontrol altında olan, yaş ve cinsiyet olarak benzer özelliklere sahip 200 çocuk hasta çalışmaya alındı. Hastaların dosya bilgilerinden, demografik özellikleri perinatal ve postnatal hikâyeleri / komplikasyonları, aile hikâyeleri, epilepsi özellikleri, nörolojik muayene, EEG ve nörogörüntüleme bulguları ve tedavi verileri değerlendirildi. Bulgular: Dirençli epilepsi ve kontrol grubundaki hastalarda yaş ve cinsiyet açısından fark saptanmadı. Dirençli epilepsi gelişimi için risk faktörleri; status epileptikus öyküsü varlığı (p<0,001), psikiyatrik bozukluk (p=0,05), mental gerilik (p<0,001), motor gerilik (p<0,001) olması, ilk nöbetin jeneralize tipte olması (p<0,005), semptomatik epilepsi varlığı (p<0,001), nöbet başlangıç yaşının iki yaşın altında olması (p<0,01), başlangıçta ve takiplerde daha sık nöbet olması (p<0,001), manyetik rezonans görüntülemede anormal bulgular olması (p<0,001) ve takiplerdeki EEG bulgularının fokal tipte olması (p<0,001) olarak saptandı. Bu faktörler lojistik regresyon analiziyle tekrar değerlendirildiğinde mental gerilik (OR=5,392, %95 GA: 2,251-11,533, p=0,000), motor gerilik (OR=4,028, %95 GA: 1,734-9,359, p=0,001) ve ilk nöbet tipinin jeneralize tipte olması (OR=2,483, %95 GA: 1,271-4,853, p=0,008) bağımsız risk faktörü olarak belirlendi. Sonuç: Çocuklarda dirençli epilepsi gelişimi bu risk faktörlerini araştırarak öngörülebilir. Dirençli epilepsi gelişebilecek hastalarda yeni AEİ denenebilir ve ketojenik diyet, cerrahi girişim gibi tedavi yöntemleri için hasta erkenden hazırlanabilir. Purpose: Early detection of childhood patients with a high risk of developing resistant epilepsy will be beneficial in the early evaluation of patients and their families in terms of the application of multiple antiepileptic drug (AED) therapies and epilepsy surgery in selected patients. In this study, we aimed to investigate the determinants of resistance in our patient group who were diagnosed with resistant epilepsy. Material and Method: In the Başkent University Faculty of Medicine, Department of Pediatrics, Department of Pediatric Neurology policlinic,100 pediatric patients between the ages of 1-17 who are diagnosed with resistant epilepsy according to the criteria of International Association for the Combat of Epilepsy, between 2008-2016 and 200 pediatric patients with epileptic seizures controlled by drug therapy, who have the same age and gender characteristics were included in the study. Perinatal and postnatal histories / complications, family history, epileptic characteristics, neurologic examination, EEG and neuroimaging findings and treatment data were evaluated from the patient's file information. Results: There was no difference in age and gender in patients with resistant epilepsy and control group. Risk factors for development of resistant epilepsy are; presence of status epilepticus story (p<0,001), psychiatric disorder (p=0,05), mental retardation (p<0,001), motor retardation (p<0,001), generalized type of epileptic seizure in first seizure (p<0,005), symptomatic epilepsy (p<0,001), presence of seizure onset below two years of age (p<0,01), frequent seizures at baseline and follow-up (p<0,001), abnormal findings in magnetic resonance imaging (p<0,001) and EEG findings wtih focal type (p<0,001). When these factors were reevaluated by logistic regression analysis, mental retardation (OR=5,392, 95% GA: 2,251-11,533, p=0,000), motor retardation (OR=4,028, 95% GA: 1,734-9,359, p=0,001) generalized type of epileptic seizure in first seizure (OR=2,483, 95% CI: 1,271-4,853, p=0,008) were identified as independent risk factors. Conclusion: The development of resistant epilepsy in children may be predicted by investigating these risk factors. New AED can be tried in patients with resistant epilepsy and the patient can be prepared early for treatment methods such as ketogenic diet, surgical intervention.
Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child
(2015) Yilmaz, Resul; Sezer, Taner; Esmeray, Haluk; 0000-0001-7672-8100; 0000-0002-2278-1827; A-2825-2012; AAJ-5931-2021
Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation
(2020) Ayanoglu, Muge; Korgali, Elif; Sezer, Taner; Aydin, Halil Ibrahim; Sonmez, Fatma Mujgan; 0000-0002-2278-1827; 0000-0001-7994-4394; 32173091; AAJ-5931-2021
We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy, hyperthermia, generalized tremor and rigidity with normal serum CK levels. After cessation of risperidone and adding clonezepam to the supportive treatment, symptoms of NMS were ameliorated. We conclude that although serum CK elevation is a useful indicator for the early detection of NMS, normal serum CK levels may be seen during the NMS course in the presence of GAMT deficiency. (C) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Effect of Melatonin on Cytokine Levels in A Hyperthermia-Induced Febrile Seizure Model
(2017) Aydin, Leyla; Yurtcu, Erkan; Korkmaz, Yesim; Sezer, Taner; Ogus, Ersin; 0000-0003-4930-8164; 0000-0002-2278-1827; 0000-0002-9877-421X; 29208169; ABC-5392-2020; AAA-2998-2021; AAJ-5931-2021; AAJ-1058-2021
Higher serum cytokine levels have been reported in children admitted with febrile seizures and in some experimental models. However, other studies have shown that cytokine levels are influenced by melatonin. In this study, we investigated serum cytokine levels in a hyperthermia-induced febrile rat seizure model and the effect of melatonin. A total of 28 male Sprague-Dawley rats were divided into four groups: the control (C) group, healthy melatonin (MT) group, and hyperthermia-induced febrile seizure groups with (HIFS-MT) and without (HIFS) administration of melatonin. Melatonin (80 mg/kg) was given intraperitoneally 15 min before the seizure. HIFS was induced by placing the rats in 45 degrees C water. The rats were sacrificed under anesthesia after the seizure. Blood samples were drawn by transcardiac puncture to measure serum cytokine and melatonin levels. Serum interleukin (IL)-1 beta, IL-6, IL-10, and tumor necrosis factor (TNF)-alpha levels were lower in the HIFS group than those in the C group (p = 0.005, p = 0.200, p = 0.011, and p = 0.016, respectively). All serum cytokine levels of rats in the MT and HIFS-MT groups were similar to those in the C group. This experimental rat model demonstrated that serum cytokine levels decrease with HIFS and that administering melatonin maintains serum cytokine levels. These results suggest that cytokines may play role in the anticonvulsive activity of melatonin in rats with febrile seizures.
Evaluation of cortical thickness and brain volume on 3 Tesla magnetic resonance imaging in children with frontal lobe epilepsy
(2020) Rahatli, Feride Kural; Sezer, Taner; Has, Arzu Ceylan; Agildere, Ahmet Muhtesem; 0000-0002-2278-1827; 0000-0003-4223-7017; 0000-0002-4226-4034; 31802343; AAJ-5931-2021; AAB-5802-2020; AAL-9808-2021
Background Frontal lobe epilepsy (FLE) is the most common epilepsy syndrome in the pediatric population; however, brain magnetic resonance imaging (MRI) of the children with FLE is frequently normal. We use both cortical thickness and brain volume measurements to report on cortical changes in children with FLE. Our aim was to determine cortical thickness and brain volume changes on 3 Tesla MRI of children with FLE and normal brain magnetic resonance imaging. Methods Twenty-seven children with FLE and 27 healthy controls received brain magnetic resonance imaging. Cortical thickness and regional brain volumes were assessed using three-dimensional volumetric T1-weighted imaging and patients were compared with controls. Results In children with FLE, statistically significant (p < 0.05) cortical thinning were found in the bilateral middle frontal gyrus, bilateral occipitotemporal and medial lingual gyrus, left subcallosal gyrus, left short insular gyrus, and right long insular gyrus. Statistically significant volume reductions in right and left hemisphere cortical white matter, total cortical white matter, bilateral thalamus, bilateral putamen, bilateral globus pallidus, right caudate nucleus, brain stem, and right cerebellar cortex were found. Conclusion Cortical thinning in frontal and extra-frontal lobes and volume loss in a variety of brain regions were found in children with FLE.
Evaluation of Neuroimaging Findings of Central Nervous System Complications in Heart Transplant Recipients
(2020) Turnaoglu, Hale; Agildere, Ahmet Muhtesem; Rahatli, Feride Kural; Donmez, FuldemYildirim; Ocal, Ruhsen; Sezer, Taner; Can, Ufuk; Sezgin, Atilla; Aslamaci, Sait; 0000-0002-2278-1827; 0000-0001-8689-417X; 0000-0003-4223-7017; 29790456; AAJ-5931-2021; AAJ-2999-2021; AAB-5802-2020
Objectives: In this study, we presented neuroradiologic findings and diagnoses of neurologic complications in a series of heart transplant recipients. Materials and Methods: A retrospective review was conducted at Baskent University Hospital. We searched the hospital and radiology databases and identified 109 heart transplant recipients. Thirty-one of these recipients had neuroradiologic evaluations secondary to presentation of neurologic symptoms after heart transplant, with 18 patients evaluated with computed tomography and 22 patients evaluated with magnetic resonance imaging (overlap of imaging-defined groups occurred in 9 recipients). Computed tomography and magnetic resonance imaging studies were retrieved from the Picture Archiving and Communication System, with each type of imaging retrospectively evaluated on consensus by 2 radiologists. Results: Radiopathologic findings related to symptoms were detected in 12 of the 31 study patients. The most common abnormality was posterior reversible leuko-encephalopathy syndrome (5 patients, 4.6%). The other abnormalities were ischemic stroke (3 patients, 2.8%), hemorrhagic stroke (1 patient, 0.9%), intracranial abscess (2 patients, 1.8%), and intracranial dissemination of sinusoidal fungal infection and related hemorrhagic infarct (1 patient, 0.9%). The other 19 heart transplant recipients who underwent computed tomography and/or magnetic resonance imaging for neurologic complaints showed no neuroradiologic findings related to neurologic symptoms. Conclusions: Posterior reversible leukoencephalopathy syndrome and ischemic stroke were the most common neurologic complications in our heart transplant recipients. The other complications were hemorrhagic stroke, intracranial abscess, and intracranial dissemination of sinusoidal fungal infection. Neurologic complications are common in heart transplant recipients and should be identified promptly for early treatment. For the recognition of these complications, computed tomography should be performed for initial evaluation to rule out edema or hemorrhage. However, in the presence of serious neurologic symptoms that cannot be explained by computed tomography, magnetic resonance imaging should be indicated.
Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia
(2016) Sezer, Taner; Balci, Oya; 27165427
Is Celiac Disease an Etiological Factor in Children With Migraine?
(2016) Balci, Oya; Yilmaz, Deniz; Sezer, Taner; Hizli, Samil; https://orcid.org/0000-0002-2278-1827; 26887413; AAJ-5931-2021
To determine the prevalence of celiac disease in children and adolescents with migraine, the authors investigated serum levels of tissue transglutaminase antibody immunoglobulin A and total immunoglobulin A from 81 children with migraine and in a healthy control group of 176 children. Study participants who were positive for tissue transglutaminase immunoglobulin A antibodies underwent a duodenal biopsy. Two patients in the migraine group (2.5%) and 1 in the control group (0.57%) tested positive for serum tissue transglutaminase immunoglobulin A antibodies (P > .05). Duodenal biopsy did not confirm celiac disease in both groups, and these patients were considered potential celiac cases. In the present study, children with migraine did not exhibit a higher prevalence rate of celiac disease compared with healthy controls. Therefore, the screening test for celiac disease is not a necessary part of the management of migraine in children.
Is Celiac Disease an Etiological Factor in Children with Nonsyndromic Intellectual Disability?
(2016) Sezer, Taner; Balci, Oya; Ozcay, Figen; Bayraktar, Nilufer; Alehan, Fusun; https://orcid.org/0000-0002-2278-1827; https://orcid.org/0000-0002-8402-8208; https://orcid.org/0000-0002-5214-516X; https://orcid.org/0000-0002-7886-3688; 26078418; AAJ-5931-2021; AAI-9346-2021; ABG-5684-2020; Y-8758-2018
To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease.
Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors
(2017) Turan, Ozden; Anuk-Ince, Deniz; Olcay, Lale; Sezer, Taner; Gulleroglu, Kaan; Yilmaz-Celik, Zerrin; Ecevit, Ayse; 0000-0002-4369-2110; 0000-0002-2232-8117; 0000-0002-7707-1881; 0000-0002-2278-1827; 0000-0003-1434-3824; 0000-0002-5684-0581; 29168367; I-6746-2016; AAJ-4616-2021; AAJ-2333-2021; AAJ-5931-2021; AAJ-8833-2021; AAK-3548-2021
Cerebral sinovenous thrombosis (CSVT) is a rare disease in the neonatal period and also the greatest risk of neonatal mortality and morbidity. In this report, we presented two cases with CSVT and different risk factors. One of these cases had methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism and the other case had both MTHFR A1298C homozygous polymorphism, plasminogen activator inhibitor-1 (PAI-1) 4G/5G polymorphism and elevated lipoprotein a. Early diagnosis and prompt initiation of therapy of neonatal CSVT may prevent neonatal mortality and poor long-term neurodevelopmental outcomes.
Neurologic Complications After Pediatric Heart Transplant: A Single-Center Experience
(2022) Orgun, Ali; Erdogan, Ilkay; Varan, Birgul; Sezer, Taner; Tokel, N. Kursad; Ozkan, Murat; Sezgin, Atilla; 33797352
Objectives: Neurologic complications that can lead to serious mortality and morbidity in pediatric heart transplant recipients have been reported to range from 23.6% to 45%. In this study, the frequency, time, cause, and characteristics of neurologic complications in pediatric heart transplant recipients were evaluated. Materials and Methods: We retrospectively reviewed data of 37 pediatric heart transplant recipients aged <18 years who were seen at our hospital between 2007 and 2017. Medical records were reviewed to identify neurologic complications. Clinical features were compared between pediatric heart transplant patients with and without neurologic complications. Results: The rate of posttransplant neurologic complications in pediatric heart transplant was 27% (10/37). Median age of patients with neurologic complications was 12 years (range, 11-18 years). Median time for neurologic complications was 3 days (range, 2-46 days). Primary diagnoses of these 10 recipients were dilated cardiomyopathy (n = 7) and restrictive cardiomyopathy (n = 3). There were no significant differences between recipients with and without neurologic complications (P>.05). The etiologies of neurologic complications were posterior reversible encephalopathy syndrome in 3 patients (8.1%), stroke in 2 patients (5.4%), peripheral neuropathy in 2 patients (5.4%), hypertensive encephalopathy in 1 patient (2.7%), and drug encephalopathy in 1 patient (2.7%). Conclusions: Neurologic complications may lead to serious mortality and morbidity in pediatric heart transplant patients. Seizures, posterior reversible encephalopathy syndrome, stroke, peripheral neuropathy, transient ischemic attack, and cerebral infections are the most common neurologic complications, which are seen in the perioperative period in particular. Careful follow-up of pediatric heart transplant patients, with detection and early treatment of neurologic findings, will contribute to lower rates of sequelae. To our knowledge, this is the largest study to show a detailed experience of neurologic complications in pediatric heart transplant patients from a single center in Turkey.
A New Approach to the Prophylaxis of Cyclic Vomiting: Topiramate
(2016) Sezer, Taner; Sezer, Oya B.; 0000-0002-2278-1827; 27302967; AAJ-5931-2021
Background/Aims The aim of this study was to compare the efficacy and tolerability of topiramate and propranolol in preventing pediatric cyclic vomiting syndrome. Methods A retrospective medical-record review of patients who underwent prophylaxis after receiving a diagnosis of cyclic vomiting syndrome was performed. Patients who completed at least 12 months of treatment were included in the analysis. Responder rate, and adverse, event rates were also calculated from all patients. Response to treatment was assessed as the total number of vomiting attacks per year. Patients in whom the frequency of vomiting attack reduced greater or equal to 50% were defined as responders, and the remaining patients were classified as nonresponders. Results A total of 38 patients who were treated prophylactically with either topiramate (16 patients) or propranolol (22 patients) were identified. Fifty-nine percent of the patients in the propranolol group and 81% of the patients in the topiramate group reported freedom from attacks. A decrease of more than 50% in attacks per year occurred in 23% of patients in the propranolol group and 13% of patients in the topiramate group. The responder rates were 81% for propranolol group and 94% for topiramate group (P = 0.001). Despite minor adverse effects (drowsiness, nervousness, and dizziness) observed in a few patients, the adverse event rates were not significantly different between the 2 groups (P = 0.240). Conclusions The efficacy of topiramate was superior to propranolol for the prophylaxis of pediatric cyclic vomiting syndrome.
Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
(2015) Sezer, Taner; Ozcay, Figen; Balci, Oya; Alehan, Fusun; 0000-0002-5214-516X; 0000-0002-2278-1827; 0000-0002-8402-8208; 24423689; ABG-5684-2020; AAJ-5931-2021; AAI-9346-2021
Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG.
The Prevalence of Celiac Disease in Children With Arterial Ischemic Stroke
(2017) Balci, Oya; Sezer, Taner; https://orcid.org/0000-0002-2278-1827; 27548338; AAJ-5931-2021
Objective: The association between arterial ischemic stroke (AIS) and celiac disease (CD) has been described in only a few cases in adults and children. We aim to determine the prevalence of CD in children and adolescents with AIS. Study Design: We investigated serum levels of tissue transglutaminase antibody immunoglobulin (Ig) A and total IgA from 76 children with AIS and in a healthy control group of 102 children. Study participants who were positive for tissue transglutaminase IgA antibodies underwent a duodenal biopsy. Results: A total of 2 patients in the AIS group (2.26%) and 2 in the control group (1.96%) had positive serum tissue transglutaminase antibody (P= 0.89; 95% confidence interval, -5.05 to 6.89). Duodenal biopsy confirmed CD in only 1 patient who had AIS. Conclusions: In the present study, children with acute arterial stroke did not exhibit a higher prevalence rate of CD compared with healthy controls. Therefore, the screening test for CD is not a necessary part of the management of AIS in children. However, cases of recurrent AIS could be examined for CD.
Severe isolated sulfide oxidase deficiency with a novel mutation
(2021) Ergene, Merit; Yarar, Nuriye; Oncel, Elif Perihan; Sezer, Taner; Cavdarli, Busranur; Ecevit, Ismail Zafer; Aydin, Halil Ibrahim; 0000-0002-6126-4048; 34449156; AAK-4837-2021; AHD-1839-2022
Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics hypoxic-ischemic encephalopathy (HIE) in the neonatal period and is characterized by progressive severe neurological impairment due to accumulation of toxic metabolites. Case. This report presents a late diagnosed male patient with ISOD manifesting with neonatal-onset seizures, developmental delay, microcephaly, and spastic quadriplegia. Brain magnetic resonance imaging of the patient showed bilateral subcortical multi-cystic encephalomalacia involving bilateral parieto-occipital regions. A novel homozygous c.590_595delAGCCTC in-frame deletion in SUOX gene was identified in the patient, while both parents were heterozygous for that mutation. Conclusion. The mutation identified in our patient causes severe ISOD. Early diagnosis of ISOD is essential for accurate genetic counseling and achieving prenatal diagnosis. Screening for urinary sulfite in patients with neonatal or early infantile onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking HIE helps in early diagnosis.