Assuntos
Transtorno Autístico , Transtorno Alimentar Restritivo Evitativo , Baixa Visão , Criança , Humanos , Masculino , Transtorno Autístico/complicações , Transtorno Autístico/psicologia , Transtorno Alimentar Restritivo Evitativo/complicações , Transtorno Alimentar Restritivo Evitativo/fisiopatologia , Transtorno Alimentar Restritivo Evitativo/psicologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Diagnóstico Diferencial , Imageamento por Ressonância Magnética , Baixa Visão/diagnóstico , Baixa Visão/etiologia , Baixa Visão/fisiopatologia , Acuidade VisualRESUMO
BACKGROUND: Functional tic disorders are among the least common functional movement disorders, but their prevalence rose during the coronavirus disease 2019 (COVID-19) pandemic. Although female adolescents develop functional neurological disorders at higher rates than males, investigations into sexual orientation and gender identity (SOGI) status of these patients are limited. METHODS: We completed a retrospective, cross-sectional time series examining the incidence of new-onset functional tic disorders in youth presenting to the Massachusetts General Hospital Movement Disorder clinics before and during the COVID-19 pandemic. Data were collected by searching for relevant International Classification of Diseases (ICD)-10 diagnostic codes in youth aged nine to 26 years using a hospital-wide data repository. Individual cases were reviewed for inclusion based on clinical criteria and expert consensus. RESULTS: The prevalence of functional tic presentations in youth rose 8.6-fold from pre- to postpandemic levels (Fisher exact test P < 0.001), whereas the prevalence of developmental tic presentations pre- and postpandemic remained stable (114 vs 112). SOGI minority youth comprised 37% of those with functional tics (total n = 19). Ninety five percent of patients with functional tics identified as female, with 10% of these identifying as transgender. CONCLUSIONS: Our data confirm previously demonstrated dramatic rises in functional tic presentations during the COVID-19 pandemic and, more notably, reveal a strong association with SOGI minority status. We highlight the potential link between functional tic disorders and SOGI minority status. Providing a safe and supportive clinical environment and addressing stress linked to SOGI minority status may help to improve patient prognosis.
Assuntos
COVID-19 , Minorias Sexuais e de Gênero , Transtornos de Tique , Humanos , COVID-19/epidemiologia , Adolescente , Feminino , Masculino , Estudos Retrospectivos , Criança , Estudos Transversais , Minorias Sexuais e de Gênero/estatística & dados numéricos , Adulto Jovem , Transtornos de Tique/epidemiologia , Adulto , Comportamento Sexual , Prevalência , Identidade de Gênero , Massachusetts/epidemiologiaRESUMO
Pediatric cerebral aneurysms are rare, and pediatric anterior choroidal artery aneurysms are very rarely reported. A 14-month-old male with no personal or family history of connective tissue disorders or Moyamoya disease presented with a right temporal intracerebral hemorrhage with intraventricular extension. CTA was negative for vascular pathology, but digital subtraction angiography revealed an anterior choroidal artery aneurysm that was successfully coiled. This case underscores the importance of performing digital subtraction angiography in children presenting with intracerebral hemorrhage concerning for vascular pathology even if non-invasive vascular imaging is negative.
RESUMO
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828-833.
Assuntos
Cerebelo/anormalidades , Deficiências do Desenvolvimento/genética , Distonia/genética , Complexo Mediador/genética , Malformações do Sistema Nervoso/genética , Adolescente , Adulto , Sequência de Aminoácidos , Catarata/genética , Criança , Pré-Escolar , Epilepsia/genética , Variação Genética , Humanos , Lactente , Fenótipo , Sequenciamento do ExomaRESUMO
PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers. RESULTS: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these have a deleterious effect. The main clinical findings comprised developmental delay and intellectual disability ranging from mild to severe. Autism spectrum disorder, muscle tone abnormalities, and macrocephaly were common as well as hearing impairment and gastrointestinal problems. Hypoplasia of the cerebellar vermis emerged as a consistent magnetic resonance image (MRI) finding. Females and males were equally affected. Using facial analysis technology, a recognizable facial gestalt was determined. CONCLUSION: Our aggregated data illustrate the genotypic and phenotypic spectrum of X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Our cohort improves the understanding of disease related morbidity and allows us to propose detailed surveillance guidelines for affected individuals.
Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Transtorno do Espectro Autista/genética , Proteínas Cromossômicas não Histona , Proteínas de Ligação a DNA , Feminino , Genes Ligados ao Cromossomo X , Genótipo , Humanos , Deficiência Intelectual/genética , Masculino , Fenótipo , Sequenciamento do ExomaRESUMO
Headache and Neurologic Deficits with cerebrospinal fluid Lymphocytosis (HaNDL) syndrome is a rare stroke mimicker characterized by moderate to severe headache temporally associated with transient neurologic deficits, typically hemiparesis, hemisensory disturbance, and/or aphasia. Cerebrospinal fluid studies reveal a lymphocytosis and elevated protein. Episodes recur over a period no longer than 3 months. Here we describe the case of a 16-year-old boy who presented with 3 episodes of self-resolving neurologic deficits, papilledema on fundoscopic examination, and leptomeningeal enhancement on magnetic resonance imaging (MRI). We additionally review the 30 previously reported pediatric cases of HaNDL syndrome, with a focus on possible etiologic and pathophysiologic mechanisms of disease. The reported case and literature review highlight the benign episodic nature of this likely underrecognized syndrome as well as the higher than expected frequency of abnormal neuroimaging findings.
Assuntos
Cefaleia/diagnóstico por imagem , Linfocitose/líquido cefalorraquidiano , Linfocitose/diagnóstico por imagem , Doenças do Sistema Nervoso/diagnóstico por imagem , Adolescente , Cefaleia/fisiopatologia , Cefaleia/terapia , Humanos , Linfocitose/terapia , Masculino , Doenças do Sistema Nervoso/fisiopatologia , Doenças do Sistema Nervoso/terapia , SíndromeRESUMO
Roughly 1% of all weight loss surgery is performed in adolescents. There is strong evidence demonstrating significant postsurgical weight loss, improvement in quality of life, and reduction in comorbidities such as hypertension and diabetes. Reports of postoperative complications in adolescents are few because of the small sample size in most series. Despite vitamin supplementation, nutritional deficiencies requiring hospitalization occur occasionally after Roux-en-Y gastric bypass. Wernicke encephalopathy, a triad of ophthalmoplegia, ataxia, and altered mental status, is a serious consequence of thiamine (vitamin B1) deficiency. Few cases of Wernicke encephalopathy after weight loss surgery have been reported in the literature and even fewer in the pediatric population. Here we describe a teenage girl who develops vomiting after Roux-en-Y gastric bypass and presented with nystagmus, irritability, and ataxia. The clinical presentation, diagnosis, and treatment of Wernicke encephalopathy in adolescents after bariatric surgery are discussed.