Case of Kawasaki syndrome associated with Mycoplasma infection

Based on the literature sources, modern ideas about Kawasaki syndrome, its diagnostic criteria and the possible trigger role of M. pneumoniae are given. The author describes his own observation of Kawasaki syndrome, probably associated with mycoplasma infection, in a boy of 4 years and 8 months. A special feature of the case was also the presence of a combined mycoplasma-enterovirus infection, which explained the wave-like course of the disease, as well as the delayed development of the respiratory syndrome.

A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy

ObjectiveGlobal developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global development delay. The aim of the present study was to investigate the genetic etiology of a Chinese boy with global developmental delay.MethodsWe combined clinical and imaging phenotyping with trio whole-exome sequencing and Sanger sequencing to the patient and his clinically unaffected parents. A luciferase reporter and immunofluorescence were performed to detect the effect of mutation on transcriptional activity and subcellular localization.ResultsThe patient presented with several previously unreported symptoms in the patients with HADDS, including hemangiomas, mild hearing abnormalities and tracheomalacia. A novel EBF3 c.589A > G missense mutation (p.Asn197Asp, p.N197D) was identified in the patient but not in his parents. By constructing the plasmid and transfecting HEK293T cells, EBF3-N197D mutant showed impaired activation of luciferase reporter expression of the p21 promoter, and the mutant affected its entry into the nucleus.ConclusionTo the best of our knowledge, this is the first report of EBF3 pathogenic mutation which associated with HADDS in the Chinese population. Our results expand the phenotypes and pathogenic mutation spectrum of HADDS, thus potentially facilitating the clinical diagnosis and genetic counseling of HADDS patients.

The Prevalence and Morphology of Supernumerary Teeth in Children With Nonsyndromic Cleft Lip and Palate

Introduction: Cleft lip with or without cleft palate (CL/P) is congenital deformity associated with hyperdontia. Objective: To determine the prevalence and characteristics of supernumerary teeth in patients with CL/P. Design: Retrospective descriptive and correlation clinical study. Patients: One hundred thirteen children with cleft (age ranged 9.3-19.2; 67 males and 46 females) treated in Clinic of Congenital Facial Deformities Medical University of Lublin were included in the study. Methods: Records evaluation was conducted regarding age, gender, cleft type (Q36, Q37— International Classification of Diseases 10th revision), cleft side, and incidence of supernumeraries. In all supernumerary teeth, size, shape, and developmental degree were analyzed and correlation between the incidence of hyperdontia with different variables was checked. Correlations were detected using chi-square and the Yates correction. Results: The majority of the examined group were males—59.29% with Q37 (67.26%) and the cleft on the left side (62.83%). Hyperdontia was noted in 26.55%. Only upper lateral incisors were affected. They usually had atypical shape (56.67%), reduced size (83.33%), and delayed development (56.67%). Conclusions: The prevalence of supernumerary permanent teeth in patients with cleft was higher than in the general population. Anomaly was more frequent in male patients and occurred mainly on the cleft side. The severity of the cleft did not influenced the frequency of supernumerary teeth, their shape, size, and developmental degree. Supernumerary teeth were characterized by reduced crown size, abnormal structure, incorrect inclination, and delayed development phase.

Delayed development of aphasia related to degeneration of the arcuate fasciculus in the dominant hemisphere nine years after the onset in a patient with intracerebral hemorrhage: a case report

Background We report on a patient with an intracerebral hemorrhage (ICH), who showed delayed development of aphasia, which was demonstrated via follow up diffusion tensor tractography (DTT) to be related to neural degeneration of the arcuate fasciculus (AF). Case presentation A 51-year-old, right-handed male presented with right hemiparesis, which occurred at the onset of a spontaneous ICH in the left corona radiata and basal ganglia. Brain magnetic resonance images showed a hematoma in the left subcortical area at one month after onset and hemosiderin deposits in the left subcortical area at nine years after onset. At four weeks after onset, he exhibited severe aphasia, and Western Aphasia Battery (WAB) testing revealed an aphasia quotient in the 39.6 percentile (%ile). However, his aphasia improved to nearly a normal state, and at three months after onset, his aphasia quotient was in the 90.5 %ile. At approximately eight years after onset, he began to show aphasia, and his aphasia increased slowly with time resulting in a WAB aphasia quotient in the 12.5 %ile at nine years after onset. The integrity of the left AF over the hematoma was preserved on 1-month post-onset DTT. However, the middle portion of the left AF in the middle of the hemosiderin deposits showed discontinuation on 9-year post-onset DTT. The fractional anisotropy value of the left AF was higher on the 9-year post-onset DTT (0.48) than that on the 1-month post-onset DTT (0.35), whereas the mean diffusivity value was lower on the 9-year post-onset DTT (0.10) than that on the 1-month post-onset DTT (0.32). The fiber number of the left AF was decreased to 175 on the 9-year post-onset DTT from 239 on the 1-month post-onset DTT. Conclusions We report on a patient with ICH who showed delayed development of aphasia, which appeared to be related to degeneration of the AF in the dominant hemisphere. Our results suggest that DTT would be useful in ruling out neural degeneration of the AF.

Developmental milestones of toddlers at selected areas of Nedumkandam, Idukki district, Kerala

Introduction: Globally 200 million children do not reach their developmental potentials in their first five years. The early identification of developmental delay is very critical . This study was undertaken to assess the developmental milestones of toddlers at selected areas of Nedumkandam, Idukki district, Kerala. Method: The present study was an explorative study of 120 toddlers between the age group of 30-36 months from selected areas of Nedumkandam. Data were collected by using Modified ages and stages questionnaire. It is a series of questionnaires designed to screen the developmental performance of toddlers in the areas of communication, gross motor skill, fine motor skill, cognitive, and social development. The scale was answered ‘yes’ or ‘sometimes’ or ‘not yet’. The total score is 60 and score range of 41-60 as normal development, 31-40 as mild delay and 0-30 as delayed. Result: The result indicated that 76.7% of toddlers are having normal development up to the age, 20% are having mild delayed development and 3.3% are having delayed development. Regarding the aspects of development it has been noted that mean score of gross motor development is 11.1 , fine motor development is 10.9, cognitive development is 9.3 social development is 10.7 and communication is 9.1. There is no association of developmental milestones with selected demographic variables. Conclusion: The study was concluded that majority of the toddlers achieved the developmental milestones as per the age. The study also revealed that there was no association with selected demographic variables.

Asymmetric cortical development and prognosis in fetuses with isolated mild fetal ventriculomegaly: an observational prospective study

Background Assessments of cortical development and identifying factors that may result in a poor prognosis for fetuses with isolated mild ventriculomegaly (IMVM) is a hot research topic. We aimed to perform a constant, detailed assessment of cortical development in IMVM fetuses using ultrasound and determine whether asymmetric cortical development occurred. Moreover, we aimed to estimate the prognosis of IMVM fetuses and compare the difference in the prognosis of IMVM fetuses presenting symmetric and asymmetric cortical maturation. Methods IMVM was diagnosed by regular ultrasound, neurosonography and fetal MRI. Genetic and TORCH examinations were conducted to exclude common genetic abnormalities and TORCH infection of fetuses. Ultrasound examinations were conducted at an interval of 2–3 weeks to record sulcus development in IMVM fetuses using a scoring system. The neonatal behavioral neurological assessment (NBNA), the Ages and Stages Questionnaire, Third Edition (ASQ-3) and the Bayley Scales of Infant Development, First Edition (BSID-I) were performed after birth. Results Forty fetuses with IMVM were included: twenty showed asymmetric cortical maturation and twenty showed symmetric cortical maturation. For IMVM fetuses presenting asymmetric cortical maturation, the mean gestational age (GA) at the first diagnosis of relatively delayed development was 24.23 weeks for the parieto-occipital sulcus, 24.71 weeks for the calcarine sulcus, and 26.43 weeks for the cingulate sulcus. All the sulci with delayed development underwent ‘catch-up growth’ and developed to the same grade as the sulci of the other hemisphere. The mean GA at which the two sides developed to the same grade was 29.40 weeks for the parieto-occipital sulcus, 29.30 weeks for the calcarine sulcus and 31.27 weeks for the cingulate sulcus. The NBNA, ASQ-3 and BSID-I scores of all patients were in the normal range. Conclusions IMVM fetuses may show mild asymmetric cortical maturation in the second trimester, but the relatively delayed sulci undergo ‘catch-up growth’. The neurodevelopment of IMVM fetuses presenting asymmetric cortical maturation and ‘catch-up growth’ is not statistically significantly different from IMVM fetuses presenting symmetric cortical maturation.

Delayed development in newborns with hypoxic ischemic encephalopathy stage-2.

Objective: To determine the frequency of delayed development in newborns with hypoxic ischemic encephalopathy (HIE) stage 2 presenting to Nishtar Hospital Multan. Study Design: Descriptive Case Series. Setting: Department of Pediatrics, The Children’s Hospital and The Institute of Child Health, Multan. Period: August 2019 to February 2020. Material & Methods: Children with birth asphyxia (HIE stage 2) admitted in NICU were registered. The basic demographic information including name, age, sex, address and telephone number was recorded in a specifically designed proforma. Children were followed up at 3 months and developmental milestones were recorded in the proforma. Results: Mean age of newborns was 17.15±15.95 hours and mean weight was 2.88±0.28 kg. There were 55 male newborns (67.9%) and 26 female newborn babies (32.1%). Male to female ratio was 2.1:1. Frequency of delayed development of the beabies in our study was 34.6% while 53 babies (65.4%) had normal development assessed through milestones achieved at 3 months. Milestones achieved at 3 months were; head control in 54 newborns (66.7%), lifts head and chest above couch in prone position in 50 newborns (61.7%), head above line of body on ventral suspension in 55 newborns (67.9%), follows light through an arc of 180 degrees/defensive blink in 21 newborns (25.9%), turns to nearby voice in 38 newborns (46.9%), happy response to mother’s face when feeding in 63 newborns (77.8%). Conclusion: Frequency of delayed development of the newborns with stage-2 HIE in our study was high.