Reinfección por SARS-CoV-2 en pacientes con antecedentes de MIS-C. Presentación de dos casos / MIS-C patients who were reinfected with SARS-CoV-2. Report of 2 cases

El síndrome inflamatorio multisistémico pediátrico (MIS-C, por su sigla en inglés) es una enfermedad rara. Se desconoce si los niños que se recuperaron del MIS-C tienen riesgo de recurrencia de MIS-C cuando presentan reinfección por SARS-CoV-2. El objetivo de este estudio es describir los casos de dos niñas que se recuperaron del MIS-C y presentaron reinfección por SARS-CoV-2 sin recurrencia de MIS-C.

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition. It is still unknown if children who have recovered from MIS-C are at a risk of recurrence of MIS-C when they are reinfected with SARS-CoV-2. In this study, we aimed to report 2 children who recovered from MIS-C and reinfected with SARS-CoV-2 without recurrence of MIS-C.

MIS-C patients who were reinfected with SARS-CoV-2. Report of 2 cases. / Reinfección por SARS-CoV-2 en pacientes con antecedentes de MIS-C. Presentación de dos casos.

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition. It is still unknown if children who have recovered from MIS-C are at a risk of recurrence of MIS-C when they are reinfected with SARSCoV-2. In this study, we aimed to report 2 children who recovered from MIS-C and reinfected with SARSCoV-2 without recurrence of MIS-C.

El síndrome inflamatorio multisistémico pediátrico (MIS-C, por su sigla en inglés) es una enfermedad rara. Se desconoce si los niños que se recuperaron del MIS-C tienen riesgo de recurrencia de MIS-C cuando presentan reinfección por SARS-CoV-2. El objetivo de este estudio es describir los casos de dos niñas que se recuperaron del MIS-C y presentaron reinfección por SARS-CoV-2 sin recurrencia de MIS-C.

Fever-Associated Supraventricular Tachycardia after 4CMenB Vaccination in an Infant.

Meningococcal serogroup B vaccine 4CMenB (Bexsero) is a new four-component protein vaccine developed to prevent Neisseria meningitidis serogroup B infections. Case. We report a girl with fever and supraventricular tachycardia (SVT) 6-8 hours after the second dose of 4CMenB. SVT was unresponsive to the first dose of adenosine but terminated after the fourth dose of adenosine. During three months of follow-up, she was free of further SVT attacks. Conclusion. This is the first report of ECG-proven SVT after 4CMenB vaccination. Even if fever is coexistent, SVT should be considered after persistent tachycardia and 4CMenB vaccination.

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A. The families of 11 index cases were screened by enzyme and molecular assays. Further clinical and laboratory investigations were carried out in all cases. Including 33 new patients, a total of 28 females (Age 25,82 ±â€¯12,1 Range 8-46) and 16 males (Age 24,56 ±â€¯15,04 Range 2-48) were investigated. Ten different disease-causing variants were found two of them being novel. One patient had co-existing familial mediteranian fever, one had celiac disease and three had rheumatological disorders. Lipoprotein (a) levels were elevated in 17,6%, homocysteine in 22,2%, total and low density cholesterol in 12% and antithrombin 3 levels were elevated in 13,3%. One patient was found to be heterozygous for prothrombin p.G20210A disease-causing variant (5,8%) and two for factor V Leiden disease-causing variant (11,7%). Anticardiolipin IgM antibody was found to be positive in 11,7%. The patients with abnormal cranial imaging were also noticed to have additional risk factors for thrombosis. This study provides the largest data about Fabry patients from Turkey and implies that co-existing risk factors unrelated to Fabry Disease have significant association with the presence of clinical symptoms in females and might cause an early and severe clinical course in males.

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Early diagnosis for metabolic encephalopathy caused by inborn errors of metabolism is very important for the initiation of early treatment and also for prevention of sequela. Metabolic encephalopathy in the form of seizures can result from many inborn errors of metabolism and considering the large number of disorders causing metabolic encephalopathy, enzyme assays or conventional molecular tests are expensive and take considerably long period of time which results in delayed treatment. In our center we have used next generation DNA sequencing technology as an initial diagnostic test to look for about 700 disorders at the same time for the etiologic diagnosis of a 4-month-old female infant suffering from intractable seizures. The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene. The diagnostic result was obtained much sooner than other conventional investigations. Up to our knowledge, this would be the first case with glycine encephalopathy in the literature who was approached by this novel panel method initially. Although currently, classical evaluation methods such as physical examination, biochemical and conventional molecular investigations are still accepted as the gold standards to clarify the etiology of the metabolic encephalopathy it is obvious that next generation sequence analysis will play a very significant role in the future.

Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets.

OBJECTIVE: Serum alkaline phosphatase (ALP) levels show great variation with age and sex in children and adolescents. Additionally, different buffers used even in the same method cause variable results. This detail is not usually taken into account in the evaluation. We aimed to study pediatric age- and sex-specific reference ranges for ALP by colorimetric assay using p-nitrophenyl phosphate as substrate and diethanolamine as buffer and also to compare the ALP levels in patients with different types of rickets. METHODS: 1741 healthy children and adolescents (904 girls) were included in the study for normative data. 77 different ALP measurements from 38 nutritional rickets (NR), 7 vitamin D-dependent rickets (VDDR) and 8 hypophosphatemic rickets (HR) patients were included. RESULTS: Reference values for ALP were constructed. ALP levels demonstrated a tetraphasic course with two peaks at infancy and puberty. There was no difference in ALP levels between boys and girls until puberty. However, higher ALP levels were noted at 10-11 years in girls (p=0.02) and at 12-13, 14-15, 16-17 years in boys (p<0.001). ALP levels start to decline after age 12 and 14 in girls and boys, respectively. Serum ALP levels were highest in the VDDR group and lowest in the HR group (median z-score values in HR, VDDR and NR were 3.6, 10.4 and 6.5, respectively; p<0.001). Similarly, plasma parathormone(PTH) levels ranged from highest to lowest in the VDDR, NR and HR groups (median values: 525, 237 and 98 pg/mL, respectively; p<0.001). CONCLUSIONS: This normative data will provide a basis for better evaluation of ALP levels determined by the described method. Furthermore, use of z-scores gives a more precise assessment of changes in ALP levels in rickets and other bone disorders.

The autonomic nervous system dysregulation in response to orthostatic stress in children with neurocardiogenic syncope.

Neurocardiogenic syncope is a common disorder, which is considered as a benign condition. However, sudden loss of conscience and muscle tone causes anxiety among the family members due to its similarity to sudden death. Autonomic nervous system dysregulation is thought to be responsible in the aetiology. Heart rate variability is used for assessment of autonomic nervous system.We evaluated 24 children between 6 and 18 years (mean plus or minus standard deviation is equal to 12.5 plus or minus 3.28, with neurocardiogenic syncope and 10 healthy controls, mean plus or minus standard deviation is equal to 12.48 plus or minus 3.27) by using 24 hour Holter monitorisation and head-up tilt test. Heart rate variability analysis was performed using the Holter recordings obtained both during head-up tilt test and throughout the day.Our results revealed that, there is no significant difference between the study and the control groups in terms of the mean heart rate and all indices of the heart rate variability (p > 0.05). However, during the first 5 minutes of the head-up tilt test, standard deviation of all RR intervals and root mean square of successive differences were significantly lower in the syncope group compared with the control group, 42.17 plus or minus 12.56 versus 60.10 plus or minus 33.10 and 21.26 plus or minus 8.87 versus 36.80 plus or minus 31.03; p-values 0.02 and 0.03, respectively.In conclusion; autonomic functions in children with neurocardiogenic syncope are similar to healthy children. However, sympathetic hyperactivation occurs during the early phase of orthostatic stress in children with neurocardiogenic syncope comparing to healthy controls. Parasympathetic innervation is not sufficient in compensation of this sympathetic hyperactivation. Management strategy in neurocardiogenic syncope should be based on these pathophysiologic mechanisms.