The child's self-stimulating pleasure behavior is defined as childhood masturbation (CM). Diagnosis of CM is mainly based on behavior and analysis of video recordings. This study aims to investigate ...etiological factors, movement patterns, and treatment options.Medical records and video recordings of CM in our clinic between 2015 and 2020 were retrospectively reviewed.
Ninety patients aged 8 months to 9 years were included in our study. The male-to-female ratio was 23/67. The mean age at onset of masturbation (mean ± standard deviation) was 21.42 ± 18.44 (6-107) months. Note that 27.7% (32) of the patients were taking antiepileptic drugs before admission.Eight of the 90 patients had abnormal electroencephalograms. The time of onset of CM was related to cessation of breast milk in 24.4%, separation from the mother in 43.3%, new siblings in 16.6%, initiation of toilet training in 7.7%, and parental divorce in 6.6%. Behavioral therapy was sufficient in 71.1%. Hydroxyzine hydrochloride in 19 (21.1%) and risperidone in 9 (10%) were given in the remaining cases. Overall, 23/28 of the cases receiving medication improved during follow-up.
Physicians may have difficulty identifying repetitive movements in CM. Misdiagnosis or delayed diagnosis may lead to unnecessary use of antiepileptic drugs, delayed initiation of treatment, and prolonged treatment duration. Video recordings are important in the differential diagnosis of CM. CM may have psychosocial causes and can often be effectively treated with behavioral therapy. Pharmacological treatment (hydroxyzine hydrochloride and risperidone) may be considered in cases that do not respond to behavioral treatment.
•The prevalence of febrile convulsion (FC) in Kayseri is 43/1000.•The risk of recurrence of FC increases 7.1-fold in individuals with a history of FC in first and second degree relatives.•The risk of ...recurrence increases 17.6-fold in subjects with pre-FC fever <39 °C.•Risk of recurrence increases 17.8-fold in subjects with pre-FC duration of fever <1 h.•Risk of epilepsy increases 21.1-fold in subjects with FC convulsion and neurodevelopmental abnormality.
The purpose of this study was to investigate the prevalence and recurrence of febrile convulsion (FC) and risk factors for development of epilepsy in school children throughout in the Kayseri provincial center.
Ten thousand individuals selected using “stratified cluster sampling” from a student population of 259,428 inside the Kayseri Urban Municipality represented the study sample. Fifteen thousand questionnaires were distributed, of which 10,742 (71.6%) were returned. Telephone interviews were performed with the families of the students reported as having undergone FC, and the medical records of patients with a history of hospitalization were evaluated. Data were analyzed on IBM SPSS Statistics 22.0 package program. Significance was set at p < 0.05.
Prevalence of FC was 4.2% in girls and 4.3% in boys, with a total prevalence of 4.3%. Recurrence of FC was observed in 25.4% of cases. Risk of recurrence increased 7.1 times in subjects with a history of FC in first and second degree relatives, 17.8 times in those with fever interval <1 h before convulsion and 17.6 times in those with pre-convulsion body temperature <39 °C. Epilepsy developed in 33 (7.2%) cases. Neurodevelopmental abnormality was the most important risk factor for epilepsy (21.1-fold risk increase).
Analysis revealed that FC with a good prognosis had a high rate of recurrence and a higher risk of epilepsy than in the general population. The prevalence of FC in the province of Kayseri was closer to that in developed rather than developing countries.
Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of ...CMS vary according to the age at onset of symptoms, and the type and severity of muscle weakness. Effective treatment and genetic counseling depend upon the underlying pathogenic molecular mechanism and subtype of CMS.
A retrospective and cross-sectional study was performed with 16 patients with a genetically confirmed diagnosis of CMS to share our experience with clinical symptoms, demographic data, genetic variants, and treatments applied.
Sixteen patients with a specific CMS genetic diagnosis (three novel mutations) were identified, including CHRNE (n = 7), DOK7 (n = 2), AGRN (n = 2), RAPSN (n = 1), CHRNA1 (n = 1), CHRNB1 (n = 1), CHAT (n = 1), and SCN4A (n = 1). Age at onset of symptoms ranged from the neonatal period to 12 years. Genetic diagnosis was confirmed between the ages of three months and 17 years. A significant delay was determined between the onset of symptoms and genetic diagnosis of the disease.
This study highlights the importance of genetic testing in CMS. Due to the rarity of CMS, more cases will be recognized and reported as the use of laboratory and genetic testing accelerates. We hope that our experience will grow and contribute further to the literature as clinical follow-up and treatment increase.
Background
Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the ...central nervous system (CNS).
Objective
The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes.
Methods
The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present.
Results
The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%,
n
= 38/39 vs. 68.8%,
n
= 22/32,
P
= 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (
P
< 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC.
Conclusions
Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.
Objectives: Wilson’s disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ...ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls.Methods: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10–22 years) and 14 agematched controls were prospectively recruited. Both groups were scanned on a 1.5 Tesla clinical scanner. In addition to T1- and T2-weighted MR images, a 3D multi-echo spoiled gradient echo (GRE) sequence was acquired and QSM images were derived offline. The quantitative measurement of susceptibility of corpus striatum, thalamus of each hemisphere, midbrain, and pons were assessed with the region of interest analysis on the QSM images. The susceptibility values for the patient and control groups were compared using twosample t-test.Results: One patient with WD had T1 shortening in the bilateral globus pallidus. Another one had hyperintensity in the bilateral putamen, caudate nuclei, and substantia nigra on T2-weighted images. The rest of the patients with WD and all subjects of the control group had no signal abnormalities on conventional MR images. The susceptibility measures of right side of globus pallidus, putamen, thalamus, midbrain, and entire pons were significantly different in patients compared to controls (P < 0.05).Conclusion: QSM method exhibits increased susceptibility differences of basal ganglia and brain stem in patients with WD that have neurologic impairment even if no signal alteration is detected on T1- and T2-weighted MR images.
Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial, cardiac, and kidney anomalies accompany ...psychomotor developmental delays. This report describes, a 16-month-old girl who presented to the pediatric neurology outpatient clinic with complaints of joint laxity and inability to hold her head upright from the age of 3-4 months. The patient exhibited dysmorphic facial features and hand-foot deformities. Genetic consultation was requested, and cytogenetic examination revealed a 49,XXXXX chromosomal anomaly. The most prominent clinical feature of 49,XXXXX patients with pentasomy is severe hypotonia. This article emphasizes the importance of cytogenetic analysis in the evaluation of hypotonicity.
Highlights • Plasma phthalate and bisphenol A (BPA) levels were determined in autistic children. • Oxidant/antioxidant status was also evaluated. • Plasma BPA levels of children with PDD-NOS were ...significantly higher than control. • BPA exposure might be associated with PDD-NOS and oxidative stress. • Intracellular oxidant/antioxidant imbalance might facilitate its neurotoxicity.
Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations ...in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specifically affects the asymmetrically dividing neuroblasts, which display supernumerary centrosomes and spindle abnormalities during mitosis, leading to cell cycle progression delays and reduced cell numbers. Furthermore, kat80 depletion results in dendritic arborization defects in sensory and motor neurons, affecting neural architecture. Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demonstrating its fundamental role during brain development.
•Mutations in KATNB1 (katanin B1) cause cerebral cortical malformations•Mutations affect interaction of KATNB1 with NDEL1 and KATNA1•kat80 depletion results in increased number of centrosomes•kat80 loss in Drosophila preferentially affects asymmetrically dividing neuroblasts
Mishra-Gorur et al. associate homozygous mutations in KATNB1, encoding a subunit of the microtubule-severing enzyme katanin, with complex developmental brain malformations in humans and demonstrate that KATNB1 dysfunction impacts mitotic spindle formation, asymmetric cell division, and dendritic arborization in Drosophila.
Reversible posterior leukoencephalopathy syndrome (RPLS) is recently described disorder with typical radiological findings in the posterior regions of the cerebral hemisphere and cerebellum. Its ...clinical symptoms include headache, decreased alertness, mental abnormalities, such as confusion, diminished spontaneity of speech, and changed behavior ranging from drowsiness to stupor, seizures, vomiting and abnormalities of visual perception like cortical blindness. RPLS is caused by various heterogeneous factors, the commonest being hypertension, followed by non-hypertensive causes such as eclampsia, renal diseases and immunosuppressive therapy. We presented nine patients with RPLS who had primary diagnoses such as acute post-streptococcal glomerulonephritis, idiopathic hypertension, the performing of intravenous immunoglobulin for infection with crescentic glomerulonephritis, erythrocyte transfusion for severe iron deficiency,
l
-asparaginase treatment for acute lymphoblastic leukemia and performing of granulocyte-colony stimulating factor for ulcerative colitis due to neutropenia. Early recognition of RPLS as complication during different diseases and therapy in childhood may facilitate precise diagnosis and appropriate treatment.
Highlights • Two novel SPEG mutations in 2 unrelated patients with CNM • One frame shit (c.1627-1628insA, p.Thr544Aspfs*48) mutation resulted in short N-terminal truncated protein, links to a mild ...manifestation of CNM, without cardiomyopathy • One missense mutation resulted in a stop mutation in the very end of C terminal (c.9586C>T, p.Arg3196*), the patient developed a dilated cardiomyopathy but so far mildest skeletal muscle phenotype • Whole body MRI was done to assess the involvement of different skeletal muscle groups
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