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Objective To identify the demographics, clinical characteristics, disease course, treatment patterns, and disability levels of multiple sclerosis (MS) patients with onset under the age of 10 years (early onset multiple sclerosis, EOMS). Methods EOMS patients were reviewed retrospectively in detailed records from 27 child neurology centers. Patients with preschool (≤7 years) and school age (>7 years) onset were compared. Results There were 30 children (16 girls, 14 boys) who have disease onset between 4 and 10 (mean8.1 ± 1.8) years. MS was relapsing–remitting in 29 (96.7%) and primary progressive in one (3.3%) of the patients. In patients with onset ≤7 years, motor symptoms (54.5%) and encephalopathy (45.5%) predominated, while in those with onset >7 years brainstem (42.1%), sensory (26.3%), and optic nerve (26.3%) involvement were the most frequent presentations. Conclusions MS starting ≤7 years differs from the 7–10–year-old group by the higher rate of motor symptoms and more attacks in the first year: the latter suggests a more inflammatory character for EOMS.

Marker or ring X chromosomes are frequently seen in Ullrich-Turner Syndrome with 46,X,r(X) karyotype, but only 8 children were reported with an extra marker X chromosome in at least some of their cell lines, we describe a 5 years old male patient who is mosaic (17%) for a cell line with an extra ring shaped marker X chromosome in addition to a normal 46,XY cell line. He had mild motor mental retardation, a dysmorphic face, dysplastic ears, high arched palate, cryptorchidism and brachydactyly. G-banding showed 46,XY[83]/47,XY,+r?[17] karyotype. NOR banding revealed no satellite region but its centromere was intact in C-banding. By fluorescent in situ hybridization (FISH) technique, dual X/Y alpha-satellite probes were used to detect the origin of ring shaped marker chromosome and 17% of his cells had two X chromosome signals due to marker X; hybridization with X chromosome inactivation center (XIST) specific probe revealed the absence of the locus on the ring chromosome. In this report, clinical features of our patient are compared with previously reported cases and the cytogenetic and molecular cytogenetic techniques used to detect origin of marker chromosome are discussed.

Netherton syndrome is a very rare disorder characterized with icthyosis, atopy, bamboo hair and intermittant aminoaciduria. The specifity of clinical and histopathological features of netherton syndrome is low in neonates and young infants who presents with predominating erythrodermia. Being the youngest infant presenting with the symptoms of infantile asthma we found it worth to report a six months old girl presenting with the feature of severe respiratory distress, generalized erythrodermia, and brittle hair.

© 2022 Elsevier B.V.Objective: Objective methods to monitor the sleep of preterm infants at the neonatal intensive care unit (NICU) are required to prevent potentially adverse neurodevelopmental outcomes. This study aimed to determine the concordance of actigraphy and amplitude-integrated electroencephalogram (aEEG) against gold standard direct observation (DO) in assessing sleep/wake states of typically developing preterm infants. Methods: This prospective observational study was conducted in a single center level III NICU. Sleep variables were measured using Philips Respironics Mini-Mitter® Actiwatch-2 for 24 h and compared with 8-h matched data of aEEG and DO. Sensitivity-specificity analysis, Cohen's kappa, prevalence-adjusted and bias-adjusted kappa (PABAK), and Bland Altman plots were generated. Results: Seventeen preterm infants were recruited. A total of 11252 epochs were studied. Sensitivity (86.4%), agreement rate (67.9%), and predictive value for wake (47.9%) for the actigraphy were highest at the automatic activity threshold whereas specificity (54.5%) and predictive value for sleep (75.5%) were highest at low threshold. The sensitivity of aEEG was 79.3% and the specificity was 54.3%. At all thresholds, the agreement was largely equivalent with low kappas (0.14–0.17) and PABAK coefficients (0.22–0.35) for actigraphy and DO. Moderate agreement was observed between aEEG and DO according to the PABAK coefficient (0.44). Mean differences in sleep parameters were not different between DO and aEEG as well as DO/aEEG and actigraphy at medium threshold (p > 0.05). Conclusions: Actigraphy at medium threshold can be used in depicting sleep in typically developing preterm infants at NICU. aEEG may be an alternative adjunctive method to actigraphy for the evaluation of sleep/wake states in the NICU setting. Clinical trial registration number: NCT04145362