Associations of Liver Stiffness Measured by Ultrasound Shear-Wave Elastography With Portal Hypertension and Circulatory Failure in Individuals With Fontan Circulation.

BACKGROUND. The Fontan operation palliates single-ventricle congenital heart disease but causes hepatic congestion with associated progressive hepatic fibrosis. OBJECTIVE. The purpose of this study was to evaluate associations between liver stiffness measured using ultrasound (US) shear-wave elastography (SWE) in patients with Fontan palliation and the occurrence of portal hypertension and Fontan circulatory failure during follow-up. METHODS. This retrospective study included 119 individuals 10 years old or older (median age, 19.1 years; 61 female patients, 58 male patients) with Fontan circulation who underwent liver US with 2D SWE from January 1, 2015, to January 1, 2022, and had 1 year or more of clinical follow-up (unless experiencing earlier outcome-related events). Median liver stiffness from the initial US examination was documented. Varices, ascites, splenomegaly, and thrombocytopenia (VAST) scores (range, 0-4) were determined as a marker of portal hypertension on initial US examination and 1 year or more of follow-up imaging (US, CT, or MRI). Composite clinical outcome for Fontan circulatory failure (death, mechanical circulatory support, cardiac transplant, or unexpected Fontan circulation-related hospitalization) was assessed. Analysis included the Wilcoxon rank sum test, logistic regression analysis with stepwise variable selection, and ROC analysis. RESULTS. Median initial liver stiffness was 2.22 m/s. Median initial VAST score was 0 (IQR, 0-1); median follow-up VAST score was 1 (IQR, 0-2) (p = .004). Fontan circulatory failure occurred in 37 of 119 (31%) patients (median follow-up, 3.4 years). Initial liver stiffness was higher in patients with a follow-up VAST score of 1 or greater (2.37 m/s) than in those with a follow-up VAST score of 0 (2.08 m/s) (p = .005), and initial liver stiffness was higher in patients with (2.43 m/s) than without (2.10 m/s) Fontan circulatory failure during follow-up (p < .001). Initial liver stiffness was the only significant independent predictor of Fontan circulatory failure (OR = 3.76; p < .001); age, sex, Fontan operation type, dominant ventricular morphology, and initial VAST score were not independent predictors. Initial liver stiffness had an AUC of 0.70 (sensitivity, 79%; specificity, 57%; threshold, > 2.11 m/s) for predicting a follow-up VAST score of 1 or greater and an AUC of 0.74 (sensitivity, 84%; specificity, 52%; threshold, > 2.12 m/s) for predicting Fontan circulatory failure. CONCLUSION. In patients with Fontan circulation, increased initial liver stiffness was associated with portal hypertension and circulatory failure during follow-up, although it had moderate performance in predicting these outcomes. CLINICAL IMPACT. US SWE may play a role in post-Fontan surveillance, supporting tailored medical and surgical care.

Three Different Faces of Schwannoma in Pediatric Patients.

BACKGROUND: Schwannomas arise from nerve sheaths of cranial, peripheral, and spinal nerve or nerve roots. Most intracranial schwannomas arise from the cranial nerves, predominantly the vestibulocochlear nerve. In addition to cranial nerve schwannomas, intraparenchymal schwannomas of the brain and intramedullary schwannomas of the spinal cord are extremely rare. CASE REPORT: In this case report, we describe the imaging findings of three diverse cases of schwannoma at different locations and unique presentations with acute neurological symptoms in the pediatric age group. CONCLUSION: Schwannomas should be considered and included in the differential diagnosis of intracranial or intraspinal intramedullary space-occupying lesions in pediatric patients.

Evaluation of risk factors, functionalities, and quality of life in patients with pediatric acute arterial ischemic stroke.

BACKGROUND: This study aimed to evaluate the etiology and prognosis of patients followed up for pediatric acute arterial ischemic stroke. METHODS: The clinical characteristics and etiology of patients aged 1 month-18 years who had acute arterial ischemic stroke between January 2010 and December 2020 were retrospectively evaluated. At last follow-up, the patients` functionality (Barthel Index, Functional Independence Measure), quality of life (SF-36 questionnaire), and motor outcomes (Gross Motor Function Classification System) were recorded prospectively/crosssectionally. RESULTS: Forty children (25 boys) with a median current age of 112.5 months (range: 3.6-294) were included in the study. The most frequent etiology was prothrombotic disorders, and the most important factor associated with long-term mortality was valvular heart disease. Of the 27 (67.5%) surviving patients, 29.6% had positive motor outcomes and 29.6% were independent according to the Barthel Index. In terms of quality of life, SF-36 scores were highest in the pain scale and lowest in emotional role difficulty. CONCLUSIONS: Determining the etiology and evaluating prognosis are important to plan effective treatment and rehabilitation for pediatric acute arterial ischemic stroke.

Aspects of autism spectrum disorder and correlation with neuroimaging findings in tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD. METHODS: We evaluated 34 TSC patients on the basis of DSM-V diagnostic criteria for ASD, Wechsler Intelligence Scale for Children (WISC-R), psychiatrist's examination and also structured parent interviews. The number and localization of the tubers, postcontrast signal characteristics of the tubers, SWI findings, DWI findings on brain MRI were recorded. Demographic features, epilepsy histories, number of antiseizure medications, cognitive status were eveluated also. Patients were divided into two groups: ASD group, which represented group 1 and group 2 consisting of patients without any ASD symptoms. RESULTS: In our study, the mean number of tuber count was 21.8 in patients with ASD patients (Group 1, n = 13) and 12.4 in other TSC patients without ASD (Group 2, n = 21). Rate of tubers in prefrontal cortex/whole tubers (0.51) in patients with ASD was determined to be higher in group 1 (p = 0.003). Also a significant difference was detected between generalize epileptiform activities on EEG and the rate of DRE (p = 0.002; p = 0.001) between groups. Cognitive disturbances and infantile spasm history were similar between groups. TSC2 mutations have been identified in 29 (86%) patients. CONCLUSION: The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be higher in TSC patients with ASD. Specific areas on brain MRI may help understanding the development of ASD in TSC patients.

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion of the corpus callosum in childhood: a single-center experience.

BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a rare clinicoradiological syndrome that typically presents with central nervous system symptoms such as loss of consciousness, seizure, headache, and ophthalmoparesis. METHODS: Here, we highlight the characteristics of this syndrome together with the clinical and MRI findings of 6 pediatric patients with MERS. RESULTS: Between January 2017 and October 2020, 6 patients with MERS (3 boys and 3 girls) presented to our center. The mean age was 122 ± 54.6 (min-max: 44-180) months. None of the patients had a chronic disease. In our study, infectious agents were detected in 4 patients (66.6%), while noninfectious causes (one seizure and the other hyponatremia) were detected in two patients. All of our cases were discharged without any sequelae after an average of 12.1 ± 7 (min-max: 4-20) days of hospitalization. In 1 patient (case 6), control MRI could not be performed, and the radiological recovery of our other patients was shown to be between 14 days and 2 months. DISCUSSION: MERS is an acute encephalopathy with good prognosis and should be considered by neurologists in differential diagnosis due to its variable clinical presentation and specific MRI findings.

Unusual presentation of familial Mediterranean fever with co-existing polyarteritis nodosa and acute post-streptococcal glomerulonephritis.

Acute post-streptococcal glomerulonephritis (APSGN) and polyarteritis nodosa (PAN) may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a Mediterranean fever (MEFV) mutation. The homozygous M694V mutation in the MEFV gene may cause an augmented response to the streptococcal infection that plays a role in the development of both clinical manifestations.

A rare MRI finding of NF-1: perineural arachnoidal gliomatosis.

Optic pathway gliomas are the most common central nervous system neoplasms in patients with neurofibromatosis type 1. Perineural arachnoidal gliomatosis is a rare and distinctive growth pattern of optic nerve glioma, in which the tumor infiltrates through the pia mater and pre-dominantly involves the subarachnoid space around the optic nerve. Here, we report an 8-year-old girl with perineural arachnoidal gliomatosis associated with neurofibromatosis type 1.

Multisystem inflammatory syndrome in children during severe acute respiratory syndrome coronavirus-2 pandemic in Turkey: A single-centre experience.

AIM: Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection may result in a life-threatening hyperinflammatory condition named multisystem inflammatory syndrome in children (MIS-C). We aimed to assess demographics, clinical presentations, laboratory characteristics and treatment outcomes of patients with MIS-C. METHODS: We performed a retrospective study of patients with MIS-C managed between August 2020 and March 2021 at Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital in Turkey. RESULTS: A total of 45 patients (23 male, 51%) with a median age of 8.7 years (interquartile range: 5.6-11.7 years) were enrolled to study. The SARS-CoV-2 serology was positive in 43 (95%) patients. Organ-system involvement included the dermatologic in 41 (91%), cardiovascular in 39 (87%), hematologic in 36 (80%) and gastrointestinal in 36 (80%) patients. Acute anterior uveitis was diagnosed in nine (20%) patients. Two patients presented with clinical findings of deep neck infection such as fever, neck pain, trismus, swelling and induration on the cervical lymph node. One patient presented with Henoch-Schonlein purpura-like eruption. Coronary artery dilatation was detected in five (11%) patients. For treatment of MIS-C, intravenous immunoglobulin was used in 44 (98%) patients, methylprednisolone in 27 (60%) and anakinra in 9 (20%) patients. The median duration of hospitalisation was nine days. All patients recovered. CONCLUSIONS: Children with MIS-C might have variable clinical presentations. Acute anterior uveitis might be a prominent presentation of MIS-C and require ophthalmological examination. It is essential to make patient-based decisions and apply a stepwise approach for the treatment of this life-threatening disease.

Multisystem inflammatory syndrome in children associated with SARS-CoV-2: extracardiac radiological findings.

OBJECTIVE: Multisystem inflammatory syndrome in children (MIS-C) is seen as a serious delayed complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The aim of this study was to describe the most common imaging features of MIS-C associated with SARS-CoV-2. METHODS: A retrospective review was made of the medical records and radiological imaging studies of 47 children (26 male, 21 female) in the age range of 25 months-15 years who were diagnosed with MIS-C between August 2020 and March 2021. Chest radiographs were available for all 47 patients, thorax ultrasound for 6, chest CT for 4, abdominal ultrasound for 42, abdomen CT for 9, neck ultrasound for 4, neck CT for 2, brain CT for 1, and brain MRI for 3. RESULTS: The most common finding on chest radiographs was perihilar-peribronchial thickening (46%). The most common findings on abdominal ultrasonography were mesenteric inflammation (42%), and hepatosplenomegaly (38%, 28%). Lymphadenopathy was determined in four patients who underwent neck ultrasound, one of whom had deep neck infection on CT. One patient had restricted diffusion and T2 hyperintensity involving the corpus callosum splenium on brain MRI, and one patient had epididymitis related with MIS-C. CONCLUSION: Pulmonary manifestations are uncommon in MIS-C. In the abdominal imaging, mesenteric inflammation, hepatosplenomegaly, periportal edema, ascites and bowel wall thickening are the most common findings. ADVANCES IN KNOWLEDGE: The imaging findings of MIS-C are non-specific and can mimic many other pathologies. Radiologists should be aware that these findings may indicate the correct diagnosis of MIS-C.

SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.

Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolipids, and glycosylphosphatidylinositol anchor synthesis. Steroid 5α-reductase 3 (SRD5A3)-CDG is a CDG type I with a clinical spectrum of neurological, ophthalmological, dermatological and hepatic symptoms. Although CDGs are not directly related to malignancies, it is well known that some genes that are involved in glycosylation pathways are involved in various cancers. Aberrant glycosylation has been closely linked to the development and progression of brain cancer. We report a patient with SRD5A3-CDG carrying a novel homozygous splice variant and brain neoplasm. Also, a review of the literature is made regarding the multisystem effects of the disease. Key Words: SRD5A3-CDG, Glioma, Glycosylation, Transferrin isoelectric focusing, Congenital disorders of glycosylation.

Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience.

OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of ABCD1 gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD. We present 12 patients with several subtypes of X-ALD that were followed-up in a single center. METHODS: Data of 12 patients diagnosed with X-ALD were documented retrospectively. Demographics, age of onset, initial symptoms, endocrine and neurological findings, VLCFA levels, neuroimaging data, molecular genetic analysis of ABCD1 gene, and disease progress were documented. RESULTS: Mean age of initiation of symptoms was 7.9 years and mean age of diagnosis was 10.45 years. Eight patients had the CCALD subtype, while two had the cerebral form of AMN, one had the adult form of cerebral ALD, and one patient had the Addison only phenotype. The most common initial symptoms involved the neurological system. Loes scores varied between 0 and 12. Seven patients with CCALD underwent HSCT, among them three patients died. The overall mortality rate was 25%. CONCLUSIONS: Patients with X-ALD should be carefully followed up for cerebral findings and progression, since there is no genotype-phenotype correlation, and the clinical course cannot be predicted by family history. HSCT is the only available treatment option for patients with neurological deterioration.

Clitoromegaly caused by ovarian stimulation in a preterm newborn: ovarian hyperstimulation syndrome of preterm babies.

BACKGROUND: Preterm ovarian hyperstimulation syndrome (POHS) is an uncommon disorder characterized by prematurity, hypogastric and upper leg swelling, high serum estradiol and gonadotropin levels, and ovarian cysts. Immaturity of the gonadal axis is accepted as the cause. But still, other etiological factors are suspected. CASE: A preterm baby who was born at 24 gestational weeks was referred to our clinic for ambiguous genitalia on day 118 of life. Labia majora and clitoris was edematous. Clitoris length was 1.5 cm. On laboratory evaluation: 17OH-Progesterone: 1.84 ng/ml, dehydroepiandrosterone sulphate (DHEA-S): 139 µg/dl, total testosterone (T.T): 88 ng/dl, luteinizing hormone (LH): 22.5 mIU/l, Follicle stimulating hormone (FSH): 15.7 mIU/l, estradiol (E2): 447 pg/ml. Karyotype analysis was 46, XX. There was a 25x14x12 mm ovarian cyst detected on ultrasound. On follow-up, E2 levels and cyst size increased, and there was 4 mm pericardial effusion on echocardiography at the time. CONCLUSION: In this paper, we present a case with POHS and to discuss possible pathophysiological mechanisms and treatment. This is the first case of POHS developing pericardial effusion.

Un trastorno poco frecuente del ciclo de la urea en un recién nacido: deficiencia de N-acetilglutamato sintasa / A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency

Los trastornos del ciclo de la urea (TCU) son enfermedades hereditarias con un posible desenlace desfavorable por hiperamoniemia grave. Se informa de una bebé con deficiencia de N-acetilglutamato sintasa (NAGS), quien tenía succión débil e hipotonicidad. Al examinarla, se observó hepatomegalia. El hemograma, los análisis y la gasometría eran normales, y las proteínas de la fase aguda, negativas. En los análisis, no se observaron cetonas en sangre, pero sí concentraciones elevadas de amoníaco. Las pruebas metabólicas no fueron concluyentes. Se inició el tratamiento de emergencia inmediatamente y recibió el alta el día 15 después del ingreso. Se confirmó deficiencia de NAGS mediante análisis de ADN. La paciente no tiene restricciones alimentarias ni toma medicamentos, excepto N-carbamil glutamato (NCG). La deficiencia de NAGS es el único TCU que puede tratarse específica y eficazmente con NCG. La detección temprana permite iniciar un tratamiento temprano y evitar los efectos devastadores de la hiperamoniemia

Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency.The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly. Complete blood count, biochemical values and blood gas analyses were normal, acute phase reactants were negative. Further laboratory analyses showed no ketones in blood and highly elevated ammonia. Metabolic tests were inconclusive. Emergency treatment was initiated immediately and she was discharged on the 15th day of admission. NAGS deficiency was confirmed by DNA-analysis. She is now without any dietary restriction or other medication, except N-carbamylglutamate (NCG).NAGS deficiency is the only UCD which can be specifically and effectively treated by NCG. Early recognition of disease will lead to early treatment that may prohibit devastating effects of hyperammonemia

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency. / Un trastorno poco frecuente del ciclo de la urea en un recién nacido: deficiencia de N-acetilglutamato sintasa.

Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency. The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly. Complete blood count, biochemical values and blood gas analyses were normal, acute phase reactants were negative. Further laboratory analyses showed no ketones in blood and highly elevated ammonia. Metabolic tests were inconclusive. Emergency treatment was initiated immediately and she was discharged on the 15th day of admission. NAGS deficiency was confirmed by DNA-analysis. She is now without any dietary restriction or other medication, except N-carbamylglutamate (NCG). NAGS deficiency is the only UCD which can be specifically and effectively treated by NCG. Early recognition of disease will lead to early treatment that may prohibit devastating effects of hyperammonemia.

Los trastornos del ciclo de la urea (TCU) son enfermedades hereditarias con un posible desenlace desfavorable por hiperamoniemia grave. Se informa de una bebé con deficiencia de N-acetilglutamato sintasa (NAGS), quien tenía succión débil e hipotonicidad. Al examinarla, se observó hepatomegalia. El hemograma, los análisis y la gasometría eran normales, y las proteínas de la fase aguda, negativas. En los análisis, no se observaron cetonas en sangre, pero sí concentraciones elevadas de amoníaco. Las pruebas metabólicas no fueron concluyentes. Se inició el tratamiento de emergencia inmediatamente y recibió el alta el día 15 después del ingreso. Se confirmó deficiencia de NAGS mediante análisis de ADN. La paciente no tiene restricciones alimentarias ni toma medicamentos, excepto N-carbamil glutamato (NCG). La deficiencia de NAGS es el único TCU que puede tratarse específica y eficazmente con NCG. La detección temprana permite iniciar un tratamiento temprano y evitar los efectos devastadores de la hiperamoniemia.

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Background/aim: Mucopolysaccharidoses (MPS) are a group of hereditary metabolic diseases. The aim of this study was to share the previously unreported calvarial finding of internal hypertrophy of the occipitomastoid sutures (IHOMS) together with some other well-known cranial MRI findings in this patient series. Materials and methods: A retrospective evaluation was conducted of 80 cranial MRIs of patients who had been diagnosed and followed up with MPS from 2008 to 2019 in our center. Of these patients, 11 had Hurler, 14 had Hunter, 24 had Sanfilippo, 15 had Morquio, 14 had Maroteaux­Lamy, and 2 had Sly disease. The cranial MRIs were assessed in two main groups as parenchymal intradural cranial MRI findings and extradural calvarial findings. Results: The most common parenchymal intradural cranial MRI findings were white matter signal alterations (n = 51, 63%) and perivascular space enlargements (n = 39, 48%). The most common extradural calvarial findings were J-shaped sella (n = 45, 56%) and tympanic effusion (n = 44, 55%). Although IHOMS was defined in a relatively small number of the patients (n = 12, 15%), the prevalence rate was high in MPS type I (n = 6, 54%). Conclusion: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging.

Early Ophthalmic Artery Blood Flow Parameter Changes in Patients with Type 1 Diabetes Mellitus.

OBJECTIVES: The aim of this study was to assess initial changes in blood flow parameters of the ophthalmic artery (OA) in pediatric patients with type 1 diabetes mellitus (DM). METHODS: Sixty-three subjects were included in this prospective, cross-sectional, observational study. Thirty-one (49.2%) patients with type 1 DM without diabetic retinopathy formed the DM group. The control group comprised 32 (50.8%) healthy subjects. The OA of all of the patients was examined with Doppler ultrasonography. The main outcomes were peak systolic velocity (PSV), end diastolic velocity (EDV), pulsatility index (PI), and resistivity index (RI) measurements. RESULTS: The mean age at onset of type 1 DM was 10.7±2.0 years and the mean duration was 11.4±11.0 months. The mean PSV and EDV outcomes in both eyes were significantly higher in the control group than in the DM group, whereas, the mean PI and RI outcomes in both eyes were significantly higher in the DM group (p<0.05). A mean RI of ≥0.75 indicated vascular hemodynamic changes associated with type 1 DM with a sensitivity of 72% and a specificity of 65% (area under the curve: 0.702; p=0.007). A mean PI of ≥1.69 predicted vascular hemodynamic changes associated with type 1 DM with a sensitivity of 79% and a specificity of 71% (area under the curve: 0.742; p=0.001). CONCLUSION: The results of this study revealed that disturbances in ocular hemodynamics might be present as early as the first year after a type 1 DM diagnosis. Changes in ocular hemodynamic parameters could be used to predict or screen for the development of vascular changes.

Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia.

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.

A child with atypically subtle clinical presentation of acute arterial ischaemic stroke in the middle cerebral artery.

Arterial ischaemic stroke in the paediatric population is considered a rare disease, and its diagnosis is often delayed due to the subtlety and variability of clinical symptoms, especially in younger patients. The clinical presentation and imaging features of ischaemic stroke in the paediatric population are variable depending on the underlying cause, affected artery and patient's age. Literally, acute occlusion of the middle cerebral artery shows significant clinical signs and symptoms, and riotous imaging findings due to the size of the territory. Here, we present a case of a 15-year-old boy who unusually had subtle and intermittent clinical symptoms in spite of a complete acute occlusion in his right middle cerebral artery.