Journal of Child Neurology最新文献

IntroductionMucopolysaccharidosis represents a severe lysosomal storage disorder wherein glycosaminoglycans accumulate because of various rare enzyme deficiencies. Magnetic resonance imaging (MRI) plays a crucial role in identifying neurologic involvement and monitoring disease progression.ObjectiveThis retrospective, cross-sectional study aimed to evaluate brain MRI findings in pediatric patients diagnosed with mucopolysaccharidosis, characterizing imaging patterns across subtypes.MethodsEighty pediatric patients with mucopolysaccharidosis who underwent brain MRI between 2010 and 2022 were retrospectively analyzed. MRI features such as enlarged perivascular spaces, ventriculomegaly, atrophy, white matter lesions, optic nerve sheath enlargement, and the newly described "bat sign" were evaluated. Findings were compared across mucopolysaccharidosis subtypes and age groups.ResultsThe most frequent abnormalities were enlarged perivascular spaces (67.5%), ventriculomegaly (46.2%), and atrophy (43.8%). The novel "bat sign" was identified in 49 patients (61%). Enlarged perivascular space was seen in all type I, II, and IIIC patients. Type VI patients had the highest corpus callosum area (P < .001). Brain atrophy was most common in type IIIB patients.ConclusionMRI is a valuable tool for detecting central nervous system involvement in mucopolysaccharidosis. Recognizing these patterns may facilitate early diagnosis and guide therapeutic decisions.

Situational syncope refers to syncope that occurs in specific situations and is a special type of neurally mediated syncope. The etiologic composition of situational syncope varies between adults and children. In adults, it is more common during micturition and defecation, whereas in children, it is more frequently seen during flag-raising, micturition, and defecation. The clinical features and underlying mechanisms of various types of situational syncope also differ in terms of age and sex. The treatment of situational syncope mainly includes nonpharmacologic treatment, pharmacologic treatment, and surgical treatment. Adverse events related to situational syncope are rare, and the prognosis is generally good if there are no other systemic diseases. However, in patients with underlying cardiovascular diseases, situational syncope can lead to serious cardiovascular adverse events.

Developmental epileptic encephalopathy (DEE) in children presents significant diagnostic and management challenges. Advances in whole-exome sequencing (WES) have enabled the identification of rare genetic variants, offering new insights into these complex conditions. Here, we report a 2.5-year-old girl with refractory epilepsy and DEE, in whom WES revealed a novel homozygous SULT4A1 splice-site variant. Although the SULT4A1 variant likely contributed to her condition, the later emergence of motor and speech delay in a sibling with the same mutation suggests variable expressivity or age-dependent onset, rather than incomplete penetrance. The patient partially responded to immunotherapy but continued to experience breakthrough seizures and developmental delays, highlighting the challenges in managing such disorders. This case underscores the importance of genetic testing, functional studies, and genetic counseling in the diagnosis and treatment of rare neurodevelopmental disorders.

Background: Schaaf-Yang syndrome is an ultra-rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene, also implicated in Prader-Willi syndrome. With less than 1 case per 50 000 people, Schaaf-Yang syndrome remains underreported globally, and no previous cases have been documented in Brazil. Case description: This study presents a 4-year-old Brazilian girl clinically diagnosed with Prader-Willi syndrome, characterized by hypotonia, delayed neuropsychomotor development, and craniofacial dysmorphism. Initial assessments identified growth hormone deficiency and developmental delays, followed by genetic sequencing at 2 years of age, confirming a pathogenic MAGEL2 variant [NM_019066.5:c2821dup: p (Arg941Profs*10)]. The child was also diagnosed with autism spectrum disorder. Multidisciplinary interventions, including medical care, speech therapy, and psychological support, led to remarkable improvements in motor function, language, memory, and learning. Conclusions: This is the first documented Brazilian case of Schaaf-Yang syndrome, emphasizing the critical role of early diagnosis and personalized interventions in reducing the impact of the syndrome.

PurposeEvaluation of the incidence and variability of ocular manifestations in children with neurofibromatosis type 1.MethodsIn this study, the files of 71 children aged 0-18 years with neurofibromatosis type 1 were retrospectively analyzed. Child age groups were categorized as 0-6, 7-12, and 13-18 years. In cycloplegic refractive examination, ≥-0.50 Diopter (D) values in spherical equivalents were recorded as myopia, ≥+2.0 D as hypermetropia, and ≥±1.0 D cylindrical values as astigmatism. Patients with a difference of ≥1 D in spherical or cylindrical equivalents between the 2 eyes were considered anisometropic. Amblyopia was defined as a best-corrected visual acuity ≤0.8 with Snellen chart and a difference of at least 2 lines between both eyes. The presence of 2 or more iris Lisch nodules (iris hamartoma) was considered positive.ResultsOf the 71 patients whose ocular findings were evaluated, 32 (45.1%) were boys and 39 (54.9%) were girls. According to age and gender, myopia (P = .878), hypermetropia (P = .329), myopia astigmatism (P = .761), hypermetropia astigmatism (P = .457), mixed astigmatism, anisometropia (P = .836), amblyopia (P = .551), emmetropia (P = .234), optic glioma (P = .598), strabismus (P = .219), and ptosis (P = .099) showed no significant difference (P > .05). A statistically significant difference was observed in the Lisch nodule, one of the ocular examination findings, according to age and gender (P < .05).ConclusionsPediatric patients with neurofibromatosis type 1, with common ocular manifestations, should undergo a comprehensive ophthalmologic examination. Early diagnosis and treatment are crucial for improving the clinical course of the disease and preserving vision.

This study explores trends and potential risk factors among pediatric patients with drug-resistant epilepsy who were prescribed cenobamate by their epileptologist. Twenty-four patients (54.2% female) with drug-resistant (62.5% focal) epilepsy were administered cenobamate (mean = 13.27 years, standard deviation [SD] = 4.91 years) after failing multiple antiseizure medications (mean = 4.83, SD = 2.94). Fifty percent reported improved seizure frequency, although more than half the sample experienced physiological (n = 12, 50%) and/or psychiatric (n = 4, 16.7%) adverse events, with 39% rapidly discontinuing cenobamate (mean = 4.00 months, SD = 3.21) because of intolerable physiological (n = 4, 57.1%) and/or psychiatric adverse events (n = 3, 42.9%). Of those experiencing a psychiatric adverse event, all but 1 (75%) discontinued cenobamate, as compared to discontinuation by only 40% of those experiencing a physiological adverse event (n = 10). Psychiatric adverse events were significantly associated with sex (100% female), χ²(1, N = 24) = 4.06, P = .04. Preliminary analyses also suggest older age (adolescence) may increase risk for psychiatric adverse events of cenobamate among patients with pediatric epilepsy.

Infantile epileptic spasms syndrome carries high morbidity and mortality compared with other childhood epilepsy syndromes. High-dose prednisolone is considered the first-line option by many neurologists, with efficacy comparable to adrenocorticotropic hormone (ACTH).  The second-line therapy is debated if prednisolone fails to induce remission. The objective of this study was to evaluate the efficacy of adrenocorticotropic hormone versus vigabatrin as second-line antiseizure medication in patients with infantile epileptic spasms syndrome after high-dose prednisolone failure. Thirty-eight patients met the inclusion criteria. Seventeen patients (45%) took vigabatrin and 21 (55%) took adrenocorticotropic hormone. There were no significant differences regarding age of infantile spasms onset (P = .37) or sex between both groups (P = .32). Complete control of epileptic spasms was seen in 5 of 17 patients (29.5%) taking vigabatrin and in 4 of 21 (19%) taking adrenocorticotropic hormone (P = .70). Vigabatrin showed higher efficacy; however, it did not reach statistical significance, possibly because of our sample size. These results may help guide family counseling after the failure of high-dose prednisolone as first-line therapy.