The Diagnostic Performance of Magnetic Resonance Imaging in the Categorization of Pediatric Neck Lymph Nodes: Radiologic and Pathologic Correlations.

BACKGROUND/AIM: To present MRI features of neck lymph nodes in benign and malignant conditions in the pediatric population. MATERIALS AND METHODS: MRIs of the neck of 51 patients 1 to 18 years old (40 boys, 11 girls [10.08±4.73]) with lymph node biopsy were retrospectively analyzed. Those were grouped as benign including reactive (27 [52.9%]) and lymphadenitis (11 [21.6%]), and malignant (13 [25.5%]). The groups were evaluated multiparametrically in terms of quantitative and qualitative variables. RESULTS: The long axis, short axis, area, and apparent diffusion coefficient (ADC) values of the largest lymph node were 21 (17 to 24) mm, 14 (12 to 18) mm, 228.60 (144.79 to 351.82) mm 2 , 2531 (2457 to 2714) mm 2 /s for reactive, 24 (19 to 27) mm, 15 (11 to 20) mm, 271.80 (231.43 to 412.20) mm 2 , 2534 (2425 to 2594) mm 2 /s for lymphadenitis, 27 (23.50 to 31.50) mm, 20 (15 to 22) mm, 377.08 (260.47 to 530.94) mm 2 , 2337 (2254 to 2466) mm 2 /s for malignant, respectively. Statistical analysis of our data suggests that the following parameters are associated with a higher likelihood of malignancy: long axis >22 mm, short axis >16 mm, area >319 cm 2 , ADC value <2367 mm 2 /s, and supraclavicular location. Perinodal and nodal heterogeneity, posterior cervical triangle location are common in lymphadenitis ( P <0.001). Reactive lymph nodes are distributed symmetrically in both neck halves ( P <0.001). CONCLUSION: In the MRI-based approach to lymph nodes, not only long axis, short axis, surface area, and ADC, but also location, distribution, perinodal, and nodal heterogeneity should be used.

Evaluation of Hepatosteatosis-Induced Increase in Fibrosity by Two-Dimensional Shear Wave Elastography in Children with Obesity and Comparison with Healthy Peers.

OBJECTIVE: The increase in the prevalence of obesity, nonalcoholic fatty liver disease (NAFLD), and related comorbidities in children creates a social and financial burden. In our study, we aimed to evaluate liver findings together with anthropometric and laboratory data with twodimensional shear wave elastography (2D-SWE), one of the SWE types, which is a noninvasive method for assessing tissue stiffness in children with obesity, and to obtain quantitative data that can be used in early diagnosis and follow-up. MATERIALS AND METHODS: In our single-center, observational cross-sectional study, liver gray scale findings, 2D-SWE findings, anthropometric measurements, and laboratory values of 48 children with obesity and 50 healthy children aged between 5 and 18 years, both between groups and in prepubertal and pubertal subgroups, are compared. RESULTS: A significant difference was found in the liver stiffness indicator kilopascal (kPA) values and between aspartate aminotransferase values in the prepubertal period and alanine aminotransferase values in the pubertal period (P < .001). No significant difference was found between insulin, HOMA-IR, waist circumference, waist/height ratio, and kPA. CONCLUSION: Two-dimensional shear wave elastography can be easily applied in the pediatric population as a practical, noninvasive, reproducible, and highly compatible technique. In this regard, 2D-SWE may be useful in the early diagnosis and follow-up of hepatosteatosis and fibrosis in children with obesity and NAFLD-risky cases.

Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.

The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different combinations of motor, cognitive, language, and behavioral regression linked to robust spike-and-wave activity during sleep. In this study, we aimed at describing the clinical and molecular findings in "(developmental) epileptic encephalopathy with spike-and-wave activation in sleep" (D)EE-SWAS) patients as well as at contributing to the genetic etiologic spectrum of (D)EE-SWAS. Single nucleotide polymorphism (SNP) array and whole-exome sequencing (WES) techniques were used to determine the underlying genetic etiologies. Of the 24 patients included in the study, 8 (33%) were female and 16 (67%) were male. The median age at onset of the first seizure was 4 years and the median age at diagnosis of (D)EE-SWAS was 5 years. Of the 24 cases included in the study, 13 were compatible with the clinical diagnosis of DEE-SWAS and 11 were compatible with the clinical diagnosis of EE-SWAS. Abnormal perinatal history was present in four cases (17%), and two cases (8%) had a family history of epilepsy. Approximately two-thirds (63%) of all patients had abnormalities detected on brain computerized tomography/magnetic resonance (CT/MR) imaging. After SNP array and WES analysis, the genetic etiology was revealed in 7 out of 24 (29%) cases. Three of the variants detected were novel (SLC12A5, DLG4, SLC9A6). This study revealed for the first time that Smith-Magenis syndrome, SCN8A-related DEE type 13 and SLC12A5 gene variation are involved in the genetic etiology of (D)EE-SWAS. (D)EE-SWAS is a genetically diverse disorder with underlying copy number variations and single-gene abnormalities. In the current investigation, rare novel variations in genes known to be related to (D)EE-SWAS and not previously reported genes to be related to (D)EE-SWAS were discovered, adding to the molecular genetic spectrum. Molecular etiology enables the patient and family to receive thorough and accurate genetic counseling as well as a personalized medicine approach.

Bilateral Congenital Agenesis of Stapes and Oval Window in Two Members of a Family (Brother and Sister).

Congenital agenesis of the stapes and the oval window is rare. Congenital stapedial agenesis (CSA) may be recognized preoperatively in the presence of conductive hearing loss. The principal radiological imaging approach of the temporal bone, computed tomography (CT), can be used to diagnose CSA. Our 17-year-old male patient (case A) had long-term hearing loss which was getting worse. A temporal bone CT scan revealed the absence of the stapes and the oval window on both sides and an abnormal position of the facial nerve. No anomalies were detected in the external ear structures. Explorative right ear tympanotomy revealed an abnormal inferior course and dehiscence of the facial nerve. The oval window and stapedial structures were absent. Patients were evaluated for continued hearing aid use or bone-anchored hearing aid implantation. Similar CT imaging and clinical abnormalities were seen in his 16-year-old sister (case B). They did not have any other siblings and neither of their parents nor any of their relatives had hearing loss. This report presents the CT scans of the two siblings with mixed hearing loss (mainly conductive) and the perioperative image of the first case. A genetic study may help explain the etiopathogenesis since both cases had similar clinical and imaging findings.

Apparent diffusion coefficient (ADC) measurements and morphometric evaluation of the cranium in age-matched children with central precocious puberty.

OBJECTIVES: Central precocious puberty (CPP) is one of the common reasons for referral to pediatric endocrinology. Magnetic resonance imaging (MRI) is used to rule out intracranial pathologies. However, there is insufficient information in the literature about bone marrow abnormalities on MRI in CPP cases. The aim of this study was to evaluate the apparent diffusion coefficient (ADC) values obtained from bone marrow diffusion weight images (DWI) of cranial bone structures and the status of sphenooccipital synchondrosis (SOS) in CPP. METHODS: MRI data from 6-to 9-year-old girls with CPP and a healthy control group were evaluated. Anthropometric data, FSH, LH, and oestradiol tests were recorded, and the relationship between SOS status, DWI-ADC values of the clivus, parietal bone, and occipital protuberance were compared. RESULTS: The study included 146 girls, 79 CPP, and 67 healthy aged 6-9 years (median: 8 (2)). The diagnosis age was 8.30 ± 0.8 years. The ADC values were significantly lower on CPP than normal controls (p=<0.05). In the CPP group, pattern 1 was found at 2 % (n=2), pattern 2 at 3.5 % (n=3), and pattern 3 at 3.5 % (n=3) in clivus sphenooccipital synchondrosis. There was no correlation between the mean parietal, occipital, and clivus ADC values and any variable (p>0.05). CONCLUSIONS: DWI-MRI ADC analysis can be used as a quantitative radiological marker for early detection of CPP, even before changes in sphenooccipital synchondrosis.

Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS).

OBJECTIVES: Epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) or the newly named Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome in which epileptiform abnormalities are associated with the progressive impairment of cognitive functions. This study aimed to evaluate the neurocognitive executive functions of patients at later ages and determine the long-term prognosis of the condition, as well as the factors affecting this. METHODS: This is a hospital-based cross-sectional study of 17 patients with a diagnosis of CSWS, and a minimum age of 7.5 years. The Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV) was used for neurocognitive assessment. The use of immunotherapy (intravenous immunoglobulin and/or steroid for at least 6 months) at the time of initial diagnosis, baseline activity and spike wave index (SWI) of the last wake and sleep EEG, cranial MRI findings, active epileptic seizures since the last examination, and WISC-IV parameters were statistically compared. The results of patients with genetic etiology determined by the whole exome sequencing (WES) method are also reported. RESULTS: A total of 17 patients were included in the study, with a mean age of 10.30 ± 3.15 years (range from 7.9 to 15.8 years). The mean full scale IQ score of the subjects was 61.41 ± 17.81 (range 39-91), classified as follows: 5.9% (n = 1), average; 23.5% (n = 4), low average; 5.9% (n = 1), very low; 35.3% (n = 6), extremely low (upper range); 29.4% (n = 5), extremely low (lower range) intelligence. Among the four domains of WISC-IV, the most affected index was the Working Memory Index (WMI). EEG parameters, cranial MRI findings and treatment with immunotherapy did not have a significant effect on neurocognitive outcomes. Thirteen patients (76%) were evaluated with WES for a genetic etiology. Pathogenic variants in 5 different genes (GRIN2A, SLC12A5, SCN1A, SCN8A, ADGRV1) associated with epilepsy were detected in 5/13 patients (38%). CONCLUSION: These results indicated that neurocognition is highly affected in the long term in CSWS.

Clinical correlation of 2D shear wave elastography findings in children with type 1 diabetes mellitus without autoimmune thyroiditis.

OBJECTIVES: The aim of study was to evaluate the 2D shear wave sonoelastography (SWE) findings of the thyroid gland in children with type 1 diabetes mellitus (T1DM) with normal gray-scale findings and without thyroid autoimmunity (AIT) and obtain data that will be useful for the early detection of glandular involvement. METHODS: The study included 46 T1DM patients (mean age: 11.28 ± 3.3 years) and 46 healthy children (mean age: 12.01 ± 3.8 years) as the control group. The thyroid gland mean elasticity value was obtained as kPa and compared in groups. A correlation was investigated between elasticity values and age at diabetes, serum free T4, thyroid stimulating hormone (TSH), anti-thyroglobulin, anti-tissue peroxidase, and hemoglobin A1c values. RESULTS: No difference was found between T1DM patients and the control group in the thyroid 2D SWE evaluation (the median kPa value: 17.1 (10.2) in the study group and 16.8 (7.0) in the control group) (p=0.15). No significant correlation was found between 2D SWE kPa values and age at diagnosis, serum free T4, TSH, anti-thyroglobulin, anti-tissue peroxidase, and hemoglobin A1c levels in T1DM patients. CONCLUSIONS: Our study showed that the elasticity of the thyroid gland in T1DM patients without AIT was not affected differently from that of the normal population. If 2D SWE is used in routine follow-up in T1DM patients before the development of AIT, we think that it will be useful in the early detection of thyroid gland affections and AIT, and long-term comprehensive studies in this direction will contribute to the literature.

Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES).

Background/aim: The cause and treatment of electrical status epilepticus during sleep (ESES), one of the epileptic encephalopathies of childhood, is unclear. The aim of this study was to evaluate possible microstructural abnormalities in the brain using advanced magnetic resonance imaging (MRI) techniques in ESES patients with and without genetic mutations. Materials and methods: This research comprised 12 ESES patients without structural thalamic lesions (6 with genetic abnormalities and 6 without) and 12 healthy children. Whole-exome sequencing was used for the genetic mutation analysis. Brain MRI data were evaluated using tractus-based spatial statistics, voxel-based morphometry, a local gyrification index, subcortical shape analysis, FreeSurfer volume, and cortical thickness. The data of the groups were compared. Results: The mean age in the control group was 9.05 ± 1.85 years, whereas that in the ESES group was 9.45 ± 2.72 years. Compared to the control group, the ESES patients showed higher mean thalamus diffusivity (p < 0.05). ESES patients with genetic mutations had lower axial diffusivity in the superior longitudinal fasciculus and gray matter volume in the entorhinal region, accumbens area, caudate, putamen, cerebral white matter, and outer cerebellar areas. The superior and middle temporal cortical thickness increased in the ESES patients. Conclusion: This study is important in terms of presenting the microstructural evaluation of the brain in ESES patients with advanced MRI analysis methods as well as comparing patients with and without genetic mutations. These findings may be associated with corticostriatal transmission, ictogenesis, epileptogenesis, neuropsychiatric symptoms, cognitive impairment, and cerebellar involvement in ESES. Expanded case-group studies may help to understand the physiology of the corticothalamic circuitry in its etiopathogenesis and develop secondary therapeutic targets for ESES.

The association between vitamin B12, folate, homocysteine levels, and carotid intima-media thickness in children with obesity: a cross-sectional study.

OBJECTIVES: We aimed to evaluate the association between vitamin B12, folate, homocysteine levels, and carotid intima-media thickness (CIMT) among children with obesity in whom vitamin deficiencies are more frequent. METHODS: Herein, 100 children with obesity (58 girls) were included (age, 5-18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure, and biochemical values were collected from medical records; standard deviations (SDS) and percentiles were calculated. Obesity was defined as BMI SDS of >+2SDS. Vitamin B12 and folate levels of <300 pg/mL and <4.8 ng/mL, respectively, were considered deficient. A radiologist quantified measurements from the carotid artery. RESULTS: Mean patient age was 12.52 ± 3.63 years. The mean weight SDS, BMI SDS, and WC/height were +3.37 ± 0.93, +2.93 ± 0.55, and 0.65 ± 0.05, respectively. In pubertal cases, insulin (p<0.001), the homeostatic model assessment for insulin resistance (HOMA-IR) (p=0.001) and homocysteine (p=0.002) levels were higher; vitamin B12 (p<0.001) and folate (p<0.001) levels were lower than those in prepubertal ones. WC and HOMA-IR correlated with CIMT; however, homocysteine levels were not correlated with CIMT. CONCLUSIONS: In our study, pubertal cases had lower vitamin B12 and folate levels as well as higher homocysteine levels. Although no correlation was identified between homocysteine levels and CIMT, this condition may be related to our study group comprising children, who had a shorter duration of obesity than those in adults. As CIMT was higher in children/adolescents with increased WC, it is proposed that they need central obesity more frequently and carefully follow-up.

Long-Term Outcomes of a New Minimally Invasive Approach in Chiari Type 1 and 1.5 Malformations: Technical Note and Preliminary Results.

BACKGROUND: The treatment options for patients with Chiari malformation type 1 (CM1) and Chiari malformation type 1.5 (CM1.5) have not yet been standardized. In these malformations, the main factors include obstruction at the level of the foramen magnum and dural and ligamentous thickening. Here we present our outcomes of surgery and decompression using a minimally invasive surgery (MIS) technique. METHODS: Sixty-one patients admitted to our clinics between 2009 and 2016 due to CM1 or CM1.5 and who had undergone MIS were investigated retrospectively. All patients were followed up for a mean period of 55 months, both clinically and radiologically, and the outcomes were recorded. RESULTS: All 61 patients underwent foramen magnum decompression through a 1.5-cm mini-open incision, C1 laminectomy and C2 medial inner side tour, posterior atlanto-occipital membrane removal, external dural delamination, and widening of the internal dura with longitudinal incisions. Fifty-six patients (91.8%) were satisfied with the outcome, 4 patients (6.5%) remained the same, and 1 patient (1.6%) reported a poor outcome. Forty-five percent of the patients with syringomyelia demonstrated resolution within 2 years, and 92% demonstrated resolution in 5 years. Scoliosis was seen in 5 patients (8.1%). The rate of benefit from the surgical procedure was statistically significant (P = 0.0045), and no patient required additional surgery because of poor decompression. CONCLUSIONS: MIS is effective for uncomplicated cases of CM1 and CM1.5 due to its minimal connective and muscular tissue damage, short surgical duration, short recovery time, early mobilization, effective posterior foramen magnum widening, lack of liquor fistula development, and better clinical and radiologic improvement during long-term follow-up.

Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.

BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. The dermatological hallmark is a hairless fatty tissue nevus of the scalp called nevus psiloliparus. CASE REPORT An 11-year-old right-handed boy, born at full term, was referred to our clinic. His family had no consanguinity or history of neurocutaneous disease. The patient's physical examination revealed a large hairless lesion on the right frontoparietal scalp called nevus psiloliparus. Beginning from the birth, a dermolipoma (an uncommon benign tumor) was reported to have occurred on the conjunctiva, mostly ipsilateral in his right eye and present on the ipsilateral side of the neurological abnormalities shown on magnetic resonance imaging and computed tomography. The patient had muscle weakness in left upper and lower extremities. He had a mild form of mental retardation. CONCLUSIONS There is no specific treatment for ECCL. Management of ECCL is usually symptomatic. Surgical correction of a cutaneous lesion can be performed for cosmetic improvement. An early diagnosis of ECCL allows for early symptom treatment and improved patient quality of life.

Aberrant cervical thymus and the role of ultrasonography: A case report.

Ectopic/aberrant cervical thymic tissue is a rare cause of neck mass and usually detected incidentally. Aberrant thymic tissue can occur anywhere in the course of thymic descent from the angle of the mandible to the superior mediastinum. We report a case of aberrant cervical thymus demonstrated by ultrasound.