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.

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16, and VPS33A proteins, is involved in tethering of endosomes, lysosomes, and autophagosomes. Our group and others have previously described patients with a specific homozygous missense VPS33A variant, exhibiting a storage disease phenotype resembling mucopolysaccharidosis (MPS), termed "MPS-plus syndrome." Here, we report two siblings from a consanguineous Turkish-Arabic family, who have overlapping features of MPS and intracellular trafficking disorders, including short stature, coarse facies, developmental delay, peripheral neuropathy, splenomegaly, spondylar dysplasia, congenital neutropenia, and high-normal glycosaminoglycan excretion. Whole exome sequencing and familial segregation analyses led to the homozygous NM_022575.3:c.540G>T; p.Trp180Cys variant in VPS16 in both siblings. Multiple bioinformatic methods supported the pathogenicity of this variant. Different monoallelic null VPS16 variants and a homozygous missense VPS16 variant had been previously associated with dystonia. A biallelic intronic, probably splice-altering variant in VPS16, causing an MPS-plus syndrome-like disease has been very recently reported in two individuals. The siblings presented herein display no dystonia, but have features of a multisystem storage disorder, representing a novel MPS-plus syndrome-like disease, associated for the first time with VPS16 missense variants.

Pseudomonas Aeruginosa Sepsis in a Previously Healthy Infant with Subcutaneous Nodules and Mastoid Bone Destruction.

Pseudomonas aeruginosa septicemia is rare in previously healthy children. Skin lesions such as subcutaneous nodules and ecthyma gangrenosum may be the first manifestation of Pseudomonas infection that have rarely been reported. Herein we reported a previously healthy 6-month-old boy patient who presented with suppurative otitis media, multiple nodules, septic shock, and P. aeruginosa was identified in cultures of the blood, skin lesions, and purulent material of his ears.

Acute necrotizing encephalopathy of childhood: a single-center experience

Background/aim: Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and Methods: Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results: Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 1­6.5) were included in this study. The interval range between fever and encephalopathy in patients was 1­4 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion: Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

Background Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has important functions within the mitochondria. Primary CoQ10 deficiency is a mitochondrial disorder which has devastating effects, and which may be partially treated with exogenous CoQ10 supplementation. Case presentation A 9-month-old girl patient was referred to our clinic due to growth retardation, microcephaly and seizures. She was the third child of consanguineous parents (first-degree cousins) of Pakistani origin, born at 38 weeks gestation, weighing 2000 g after an uncomplicated pregnancy, and was hospitalized for 3 days due to respiratory distress. She had sustained clonic seizures when she was 4 months old. Physical examination showed microcephaly, truncal hypotonia and dysmorphic features. Metabolic tests were inconclusive. Abdominal ultrasonography revealed cystic appearance of the kidneys. Non-compaction of the left ventricle was detected in echocardiography. Cranial magnetic resonance imaging (MRI) showed hypoplasia of the cerebellar vermis and brain stem, corpus callosum agenesis, and cortical atrophy. A panel testing of 450 genes involved in inborn errors of metabolism (IEM) was performed that showed a novel frameshift c.384delG (Gly129Valfs*17) homozygous mutation in COQ9. A treatment of 5 mg/kg/day exogenous CoQ10 was started when she was 10 months old, and the dosage was increased to 50 mg/kg/day after the exact diagnosis. No objective neurological improvement could be observed after the adjustment of the drug dosage. Conclusions We report a case of CoQ10 deficiency due to a novel COQ9 gene mutation that adds clinical data from a newly diagnosed patient. Our case also outlines the importance of genetic panels used for specific diseases including IEM.

Acyclovir Unresponsive Herpes Simplex Encephalitis in a child successfully treated with the addition of Foscarnet: Case report. / Encefalitis por herpes simple resistente al aciclovir en un niño tratado satisfactoriamente con el agregado de foscarnet: A propósito de un caso.

Herpes simplex encephalitis (HSE) is the most common cause of sporadic focal encephalitis worldwide. Acyclovir is the treatment of choice of HSE since the 1980s. After the widespread use of acyclovir, HSE related mortality rate had reduced but resistant strains emerged. Acyclovir resistant HSV incidence was reported as about 0.5 % and 3.5 %-10 % in immunocompetent and immunocompromised patients, respectively. Herein, a 12-year-old immunocompetent patient with HSV-1 encephalitis who was successfully treated with combined acyclovir and foscarnet therapy is described. In the case of deteriorating clinical condition under acyclovir treatment even if the absence of demonstration of increased CSF HSV viral load, the possibility of acyclovir resistant HSE and the addition of foscarnet to the acyclovir treatment might be considered.

La encefalitis por herpes simple (EHS) es la causa más frecuente de encefalitis focal esporádica en todo el mundo. El aciclovir es el tratamiento preferido para la EHS desde la década de 1980. Después del uso generalizado del aciclovir, se redujo la tasa de mortalidad relacionada con la EHS pero surgieron cepas resistentes. Se ha informado que la incidencia de virus del herpes simple (VHS) resistente al aciclovir es del 0,5 % y del 3,5 %-10 % aproximadamente en los pacientes inmunocompetentes e inmunocomprometidos, respectivamente. En este artículo, describimos el caso de un paciente inmunocompetente de 12 años de edad con encefalitis por VHS-1 tratado satisfactoriamente con aciclovir y foscarnet. En el caso de una condición clínica que desmejora con el tratamiento con aciclovir, incluso si no se demuestra un aumento de la carga viral del VHS en el líquido cefalorraquídeo, se podría considerar la posibilidad de EHS resistente al aciclovir y el agregado de foscarnet al tratamiento con aciclovir.

A case of tracheal bronchus associated with right aortic arch and partial anomalous pulmonary venous connection.

Tracheal bronchus includes a variety of bronchial anomalies arising in the trachea or main bronchus and directed toward the upper-lobe territory. Reported incidence varies from 1-3% in the pediatric population. It is generally associated with other congenital malformations, including costovertebral anomalies, congenital airway and lung anomalies, vascular anomalies, and congenital heart defects. Presently described was the case of a 14-year-old female with tracheal right-upper-lobe bronchus, right aortic arch with mirror image, and abnormal left upper pulmonary venous return to innominate vein.

Normal sizes of internal jugular veins in children/adolescents aged birth to 18 years at rest and during the Valsalva maneuver.

OBJECTIVES: We aimed to establish normal ultrasonographic (US) values of internal jugular vein (IJV) sizes in children/adolescents aged birth to 18 years and to determine the correlation of US measurements with age, height, weight and body surface area (BSA) of children in different age groups. METHODS: Two hundred and thirty-six healthy children (0-18 years) were divided into four groups according to their age (0-2, 3-6, 7-12, and 13-18 years). US measurements (transverse, anteroposterior diameter, and cross-sectional area at rest and during the Valsalva maneuver) of bilateral IJVs were taken at the level of cricoid cartilage. RESULTS: Our study gives information about the reference values in children between birth to 18 years of age. There were significant differences between measurements taken at rest and during the Valsalva maneuver in all age groups. Moderate to strong correlations (clinically significant) between age, height and BSA of the subjects and IJV measurements were detected only in the 0-2 years age group. The strength of the correlations decreased with increasing age. Pearson's correlation revealed that height had the strongest and weight had the weakest correlation with US measurements. 'Height' was an independent variable on the right, and 'age' on the left side, except for rest CSA, when a regression analysis was performed for clinically significant correlations. CONCLUSIONS: Determination of normal reference values for US measurements of the IJV and knowledge of correlation with age, height, weight and BSA might be valuable during interventional procedures and for the diagnosis of phlebectasia in children/adolescents.

Imperforate hymen causing bilateral hydroureteronephrosis in an infant with bicornuate uterus.

A rare case of imperforate hymen associated with bicornuate uterus in an infant is presented as a cause of bilateral hydroureteronephrosis and pelvic mass in infancy. The importance of postoperative radiologic evaluation for diagnosis of accompanying uterine abnormalities is introduced. A 8-month-old girl with restlessness and intermittent fever was brought to the daily outpatient clinic by her parents. Ultrasound exam showed bilateral grade 4 hydroureteronephrosis and a large cystic pelvic mass. Magnetic resonance scan of the pelvis revealed marked hematocolpos. A cruciate incision was made over the hymen under general anesthesia. During a 6-month followup gradual resolution of bilateral hydroureteronephrosis was documented. Although the details of the uterine anomaly were obscured in preoperative imaging, postoperative US and MR demonstrated bicornuate uterus. Postoperative pelvic radiologic examination is highly recommended to verify the resolution of hematocolpos and to screen for any concomitant anomalies that can have long-term clinical significance.

Adrenal bleeding in neonates: report of 37 cases.

Adrenal hemorrhage is more common in neonates than in children or adults. The incidence of detected cases ranges from 1.7 to 2.1 per 1000 births. Because adrenal bleeding may remain asymptomatic, the real occurrence is probably higher. In this retrospective study, we evaluated epidemiologic properties, risk factors and clinical presentations of adrenal hemorrhage in 37 term newborn babies diagnosed as adrenal hemorrhage with abdominal ultrasonography between January 2003 and July 2007 in Dr. Sami Ulus Children's Hospital Neonatal Intensive Care Unit (NICU). We also evaluated the role of adrenal hemorrhage among the etiologic factors of unexplained jaundice. Abdominal ultrasonography was applied to 2280 newborns, and 37 newborns (25 male, 12 female) were diagnosed as adrenal hemorrhage (1.6%). The male/female ratio was 2.08. The average age and birth weight at admission were 4.9 +/- 0.3 days and 3333 +/- 939 g, respectively. Adrenal hemorrhage was right-sided in 24, left-sided in 9 and bilateral in 4 newborns. Resolution time of adrenal hemorrhage was a minimum of 3 months, maximum of 9 months in ultrasonographic follow-up. The most common clinical feature in infants with adrenal hemorrhage was jaundice, which was observed in 67.6% of cases (n = 25). We advise that, in cases of hyperbilirubinemia of unknown etiology, adrenal hemorrhage must be kept in mind. We recommend abdominal ultrasonography for further evaluation.