Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.

The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

BACKGROUND: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. OBJECTIVE: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. METHODS: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. RESULTS: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. CONCLUSIONS: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.

A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.

Introduction: Nicotinamide adenine dinucleotide (NAD) and nicotinamide adenine dinucleotide phosphate (NADP) are required redox equivalents for essential biochemical reactions. Their hydrated forms, NADHX and NAD(P)HX, are inhibitors for several dehydrogenases and cause harmful byproducts. NAD(P)HX dehydratase (NAXD) and NAD(P)HX epimerase (NAXE) together form the nicotinamide repair system. Case Presentation: A 7-month-old boy was admitted due to myoclonic seizures, impaired consciousness, and rapid loss of head control. One of his siblings regressed after a febrile seizure and died at 7 months. He had lethargy and axial hypotonia but skin lesions and organomegaly were not noted. Basal metabolic tests were within normal limits except serum and cerebrospinal fluid lactate levels, which were mildly elevated. Mitochondrial cocktail was added to the antiepileptic treatment with suspicion of mitochondrial disease. Whole-exome sequencing showed a novel homozygous mutation (c.247G>A) in the NAXD gene. His seizures stopped within a few weeks. However, he died at the age of 18 months. Discussion: Prominent features of NAXD deficiency are progressive neurological deterioration after fever, cardiomyopathy, skin lesions, and premature death. Unlike the cases reported in the literature, our patient had neither preceding fever nor skin lesion during follow-up. It appears that cases show phenotypic diversity.

How did the COVID-19 Pandemic Affect Pediatric Neurologists?

BACKGROUND: In addition to physical health, pandemics affect mental health. The aim was to reveal problems encountered during the coronavirus disease 2019 (COVID-19) pandemic by pediatric neurologists and pediatric neurology residents in Turkey. METHODS: Participants were sent a survey form using Google Forms between November 05, 2020, and December 07, 2020. The form included questions about demographic information, changes to services offered, effects of the COVID-19 pandemic on patient follow-up/treatment and doctor decision-making, the Depression-Anxiety-Stress Scale 21, and the Impact of Events scale for posttraumatic stress disorder. RESULTS: A total of 232 pediatric neurologists and residents (mean age: 40.67 ± 7.8 years) participated. Of these 182 participants (78.4%) stated the pandemic had affected decisions during diagnosis and treatment management. A total of 222 participants completed the Depression-Anxiety-Stress Scale 21 and Impact of Events scale. Of these, points at levels that were "severe and very severe" were present for 42 participants (18.9%) for depression, 29 participants for anxiety (13%), and 31 participants for stress (14%). Impact of Events scale points were high at "severe" levels for 122 participants (55%). All scores were higher for those with individuals at risk in terms of COVID-19 in their family compared with those without individuals at risk in the family (P < 0.05). CONCLUSIONS: As we emerge from the destruction caused by COVID-19, it will be beneficial not only for our professional practice but also in terms of our individual health to learn lessons that will assist in managing the next pandemic waiting in our future.

Enuresis Nocturna in children with asthma: prevalence and associated risk factors.

BACKGROUND: Enuresis Nocturna (EN) is a common disorders in childhood. Although many different underlying pathophysiological mechanisms have been proposed to explain EN, its etiology is multifactorial. Some reports demonstrate that there is an association between EN and allergic diseases. To study (1) the prevalence of EN in children with asthma, (2) to determine the possible risk factors for EN in asthmatic children. METHODS: Five hundreds and six children aged 6-14 years-old diagnosed with asthma and 380 age-matched non-asthmatic controls were enrolled into this cross-sectional case-control study. We studied an allergy panel that included skin prick tests with (8 inhalant allergens), total IgE, and blood eosinophil count for both groups. Semi-structured interviews were conducted with the parents of children presenting EN. Factors associated with EN in children with asthma were analyzed using a logistic regression model. RESULTS: The prevalence of EN was significantly higher in children with asthma as compared to the controls: 132 (26 %), 43 (11.5 %) respectively (p = 0.001). Emergency visits frequency, and family history of enuresis were higher in the asthmatic children with EN than in asthmatic children without EN. According to the logistic regression analysis, positive pollen sensitization (p = 0.027, OR = 1.94), allergic rhinitis (p = 0.032, OR = 2.36), and high eosinophil count (p = 0.004, OR = 1.40) were independent risk factors for EN in children with asthma. CONCLUSION: This study showed that the prevalence of EN in children with asthma was higher than in same age controls. Sensitization to pollens, allergic rhinitis and high blood eosinophil count associate to the EN in children with asthma.