Objective: This study aimed to investigate the relationship between autism spectrum disorder (ASD) and vitamin D levels in children and adolescents. Methods: We measured serum 25-hydroxyvitamin D (25-OHD) levels in 1529 patients with ASD aged 3 to 18 years, without any additional chronic diseases. Levels of 25-OHD were compared according to sex, age (<11 or ≥11 years), and birth season. Additionally, laboratory parameters (calcium, phosphorus, alkaline phosphatase, and 25-OHD) of 100 selected patients with ASD were compared with those of the healthy control group. Results: Vitamin D deficiency or insufficiency was found in approximately 95% of all patients. Levels of 25-OHD in adolescent patients with ASD aged 11 to 18 years were significantly lower than those in patients aged younger than 11 years. In the 100 selected patients with ASD, mean serum 25-OHD levels were significantly lower and alkaline phosphatase levels were higher compared with those in healthy children. Conclusion: Our study suggests a relationship between vitamin D and ASD in children. Monitoring vitamin D levels is crucial in autistic children, especially adolescents, to take protective measures and treat this condition early.

Obesity is known to affect thyroid functions. Recently, waist-height ratio (WHtR) has been considered as a useful marker of subclinical hypothyroidism in obese cases, but its relation with thyroid autoimmunity still remains unclear. We evaluated the effect of body fat mass, WHtR, and metabolic parameters on thyroid autoantibody levels in children with obesity. This is a cross-sectional study carried out with an obese (n=56, M/F:29/26) and a healthy group (n=38, M/F:19/19). All subjects underwent anthropometric measurements, laboratory investigations for thyroid function tests, thyroid peroxidase (TPO-ab) and thyroglobulin antibodies (Tg-ab), transaminase, blood glucose, insulin levels, and lipids after overnight fasting. Fat mass was estimated by multiple frequency bioimpedance analysis in the obese group, which was further divided into two subgroups according to the median of WHtR. All parameters were compared between the groups/subgroups. In the obese group, weight, height, body mass index (BMI), free-triiodothyronine, thyrotropin, TPO-ab, insulin, LDL-cholesterol, total cholesterol, alanine aminotransferase levels, and HOMA-IR were significantly higher than the controls group (p0.6" subgroup (n=28), weight, BMI, fat mass, TPO-ab, Tg-ab, insulin and triglyceride levels were higher than WHtR ≤0.6 subgroup (p0.6 are likely to have higher thyroid antibody levels, and Tg-ab levels have a positive correlation with WHtR, which reveals an association of central adiposity with thyroid autoantibody levels in these cases.

Objective: Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy defined by the molar tooth sign (MTS) on brain magnetic resonance imaging accompanied by hypotonia, oculomotor apraxia (OMA), developmental delay, and multisystem involvement. With over 40 genes implicated, JS displays genetic and phenotypic heterogeneity. This study aimed to define the clinical and molecular spectrum of JS in a Turkish cohort. Materials and Methods: This study included 31 JS patients from 28 unrelated families, followed for 7.4 years. Genetic variants were identified using whole exome sequencing and confirmed by Sanger sequencing. Results: Genetic diagnosis was established in 23 families in 13 JS-related genes, with AHI1 (17.9%) and CEP290 (14.3%) most frequently affected. Thirteen novel variants were identified, including a variant of uncertain significance in NPHP4 in a patient with OMA, retinal involvement, MTS, and grade-III vesicoureteral reflux (VUR). The MTS was absent in 2 AHI1 and atypical in 1 TMEM107 patient; others exhibited typical MTS. Ptosis occurred in all MKS1 and TCTN2 patients. Retinopathy and vision impairment were most common in AHI1 and CEP290. Cognitive outcomes varied; normal cognitive function was seen in 1 AHI1 and 1 CEP290 case. Renal/hepatic involvement was generally mild; kidney hypoplasia occurred in 1 AHI1, VUR in 1 NPHP4, and transient transaminase elevation in 1 TCTN2 patient. One patient without a genetic diagnosis had situs inversus totalis. Intra-familial variability occurred among siblings carrying an AHI1 variant. Conclusion: This study highlights the genotypic and phenotypic diversity of JS, identifying 13 novel variants and suggesting NPHP4 as a potential JS-associated gene.

Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase (GALC) enzyme activity. The genetic basis of Krabbe disease consists of biallelic mutations in the GALC gene, but the genetic spectrum in the Turkish population is poorly defined. We aimed to present a Turkish case-series with infantile-onset Krabbe disease, define the clinical and molecular findings and compare the genetic spectrum with the mutations previously reported in the literature. Six cases, who were referred to our clinic between 2015-2019, with a definite diagnosis of infantileonset Krabbe disease were included in the study. The family history, clinical information, biochemical and radiological examinations of the patients were screened and evaluated. All encoded exons and exon-intron regions of the GALC gene were sequenced using next generation sequencing technology. Multiplex ligationdependent probe amplification analysis was used for deletion type mutations that could not be detected by sequence analysis. GALC gene sequence analysis revealed four known mutations including c.1394C > T (p.Thr465Ile), c.411_413delTAA (p.Lys139del), c.820G > C (p.Glu274Gln), and 30 kilobase deletion mutation among the exons 11-17 (IVS10del30kbp). Moreover, the c.1623G > A (p.Trp541Ter) variant, which was not previously reported in the literature, was detected in two cases. We believe that the demonstration of the genetic spectrum of infantile-onset Krabbe disease in Turkish patients will be an important contribution to the GALC mutation data in our country. More importantly, two novel variants were defined. This knowledge may enable early detection and treatment with the advent of a carrier or newborn screening tests.

Objective: Childhood cerebrovascular diseases (CVDs) comprise a heterogeneous group of disorders associated with significant neurological morbidity and long-term functional impairment. Despite increasing awareness, epidemiological and outcome data in pediatric populations remain limited. This study aimed to evaluate the demographic characteristics, etiological distribution, clinical presentation, neuroimaging findings, treatment approaches, and long-term outcomes of pediatric patients diagnosed with CVD in a tertiary pediatric neurology center. Methods: This retrospective single-center study included 25 pediatric patients diagnosed with CVD and followed up between 2010 and 2026. Demographic data, clinical findings, etiological factors, neuroimaging characteristics, treatment strategies, and follow-up outcomes were retrospectively reviewed. Functional outcomes were assessed using the Modified Rankin Scale (mRS). Results: The mean age at diagnosis was 8.4 years, and 60% of patients were male. Ischemic stroke was identified in 68% of patients, whereas 32% had hemorrhagic stroke. Hematologic/thrombophilic disorders and vasculopathies represented the most common etiological subgroups. Acute-onset hemiparesis, headache, and seizures were the leading presenting symptoms. Neuroimaging abnormalities were detected in all patients, with multiple lesions observed in 68% and bilateral involvement in 44% of cases. Pediatric intensive care unit admission was significantly more frequent among patients with hemorrhagic stroke (P < .001), and was significantly associated with long-term neurological sequelae development (P = .004). Long-term neurological sequelae were identified in 60% of patients, and post-stroke epilepsy developed in 52%. Mortality was 4%, while the median mRS score at the last follow-up visit was 2. Conclusion: Pediatric CVDs are associated with substantial long-term neurological burden despite relatively low mortality rates. Hemorrhagic events were linked to more severe clinical outcomes and higher intensive care requirements. Early recognition, comprehensive neurovascular imaging, and multidisciplinary long-term follow-up are essential for improving neurological outcomes in affected children. Cite this article as: Sengenc E, Tunc A, Guler S, et al. From acute events to chronic burden: a 16-year single-center experience in pediatric cerebrovascular diseases. Cerrahpaşa Med J 2026, 50, 0098, doi: 10.5152/cjm.2026.26098.