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Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Mar 2022Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In...
Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.
Topics: Athetosis; Chorea; Congenital Hypothyroidism; Cough; Humans; Male; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1
PubMed: 35545334
DOI: 10.11817/j.issn.1672-7347.2022.200998 -
Andes Pediatrica : Revista Chilena de... Dec 2021In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out...
INTRODUCTION
In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene.
OBJECTIVE
To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1.
CLINICAL CASE
Newborn patient with respiratory distress since birth, chILD syndrome, and hypothyroidism, in which brain-lung-thyroid syndrome was suspected. He also presented seizures, minor and ma jor abnormalities on physical examination. Microarray analysis revealed a 14.7 Mb deletion in the chromosome 14q12-q21.1, which includes the NKX2-1 gene.
CONCLUSION
The brain-lung-thyroid syndrome should be considered in newborns with respiratory distress syndrome and diffuse lung disease (chILD syndrome), especially if they present hypotonia, choreoathetosis, or hypothyroidism. Diagnosis confirmation requires genetic analysis, even more, when there are other abnormalities not explained by the suspected syndrome.
Topics: Abnormalities, Multiple; Athetosis; Child; Chorea; Congenital Hypothyroidism; Genetic Diseases, X-Linked; Humans; Ichthyosiform Erythroderma, Congenital; Infant, Newborn; Limb Deformities, Congenital; Lung Diseases, Interstitial; Male; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1
PubMed: 35506806
DOI: 10.32641/andespediatr.v92i6.3287 -
Chinese Medical Journal Feb 2022Intensive phototherapy (IPT) and exchange transfusion (ET) are the main treatments for extreme hyperbilirubinemia. However, there is no reliable evidence on determining...
BACKGROUND
Intensive phototherapy (IPT) and exchange transfusion (ET) are the main treatments for extreme hyperbilirubinemia. However, there is no reliable evidence on determining the thresholds for these treatments. This multicenter study compared the effectiveness and complications of IPT and ET in the treatment of extreme hyperbilirubinemia.
METHODS
This retrospective cohort study was conducted in seven centers from January 2015 to January 2018. Patients with extreme hyperbilirubinemia that met the criteria of ET were included. Patients were divided into three subgroups (low-, medium-, and high- risk) according to gestational week and risk factors. Propensity score matching (PSM) was performed to balance the data before treatment. Study outcomes included the development of bilirubin encephalopathy, duration of hospitalization, expenses, and complications. Mortality, auditory complications, seizures, enamel dysplasia, ocular motility disorders, athetosis, motor, and language development were evaluated during follow-up at age of 3 years.
RESULTS
A total of 1164 patients were included in this study. After PSM, 296 patients in the IPT only group and 296 patients in the IPT plus ET group were further divided into the low-, medium-, and high-risk subgroups with 188, 364, and 40 matched patients, respectively. No significant differences were found between the IPT only and IPT plus ET groups in terms of morbidity, complications, and sequelae. Hospitalization duration and expenses were lower in the low- and medium-risk subgroups in the IPT only group.
CONCLUSIONS
In this study, our results suggest that IPT is a safe and effective treatment for extreme hyperbilirubinemia. The indication of ET for patients with hyperbilirubinemia could be stricter. However, it is necessary to have a contingency plan for emergency ET as soon as IPT is commenced especially for infants with risk factors. If IPT can be guaranteed and proved to be therapeutic, ET should be avoided as much as possible.
Topics: Child, Preschool; Exchange Transfusion, Whole Blood; Humans; Hyperbilirubinemia, Neonatal; Infant; Infant, Newborn; Kernicterus; Phototherapy; Retrospective Studies
PubMed: 35274627
DOI: 10.1097/CM9.0000000000001962 -
Journal of Child Neurology May 2022Subacute sclerosing panencephalitis is a progressive devastating condition due to persistence of mutant measles virus, affecting children and adolescents, characterised...
Subacute sclerosing panencephalitis is a progressive devastating condition due to persistence of mutant measles virus, affecting children and adolescents, characterised by myoclonus, seizures, and neuropsychiatric issues. Movement disorders apart from myoclonus are reportedly uncommon. We aimed to describe frequency and proportion of movement disorders among children with subacute sclerosing panencephalitis, hypothesizing that these occur more frequently than previously reported. In this cross-sectional study, we enrolled children with subacute sclerosing panencephalitis between 1 month and 18 years of age who fulfilled the diagnosis of subacute sclerosing panencephalitis as per modified Dyken criteria, and examined them for movement disorders. We also assessed their clinical profile and disease severity via Jabbour staging and modified Rankin Scale score. We compared demographic, clinical, and laboratory features of children with and without movement disorders. We enrolled 50 children (36 males; 72%) (age range 1.5-14 years). Of these, 28 (56%) had movement disorders. Among movement disorders, the most frequent was myoclonus (92%), followed by ataxia (9; 18%), chorea-athetosis (7; 14%), dystonia (6; 12%), tremor (4; 8%), repetitive behavior (4; 8%), and parkinsonism (3; 6%). Movement disorders were the presenting feature of subacute sclerosing panencephalitis among 7 children. There were no significant differences in clinical or laboratory features among children with and without movement disorders. Movement disorders were frequent in subacute sclerosing panencephalitis. Hyperkinetic disorders were dominant. Dystonia and chorea-athetosis occurred more commonly among nonmyoclonus movement disorders. Movement disorders may manifest even in earlier stages of subacute sclerosing panencephalitis and may be the heralding feature. Recognition of these features is important to plan management and reduce morbidity.
Topics: Adolescent; Athetosis; Child; Child, Preschool; Chorea; Cross-Sectional Studies; Dystonia; Electroencephalography; Humans; Infant; Male; Movement Disorders; Myoclonus; Subacute Sclerosing Panencephalitis
PubMed: 35262436
DOI: 10.1177/08830738221085158 -
Cureus Feb 2022Paroxysmal dyskinesias are a rare group of episodic movement disorders characterized by any combination of dystonia, chorea, and athetosis. Patients usually present...
Paroxysmal dyskinesias are a rare group of episodic movement disorders characterized by any combination of dystonia, chorea, and athetosis. Patients usually present early in life with episodes of variable frequency involving the limbs or facial muscles that can be disabling. In this article, we present a case of paroxysmal non-kinesigenic dyskinesia that was responsive to the sodium-channel blocker carbamazepine. Recent data has revealed the role of voltage-gated sodium channels in the pathophysiology of the disease; hence, these disorders are referred to as channelopathies. Further advancements in genetic analysis have elucidated targets corresponding to these disorders, indicating a possible role for gene sequencing in helping to differentiate the subtypes of paroxysmal dyskinesias. This case report sheds light on the pathophysiology of the various channelopathies, especially the findings of cerebellar spreading depolarization and its implication in paroxysmal kinesigenic and non-kinesigenic dyskinesias.
PubMed: 35251868
DOI: 10.7759/cureus.21804 -
International Clinical... Jan 2022Functional movement disorders (FMD) involve a broad range of abnormal involuntary movements not consistent with neurological diseases. These conditions often occur in...
Functional movement disorders (FMD) involve a broad range of abnormal involuntary movements not consistent with neurological diseases. These conditions often occur in combination with mood and anxiety disorders and are associated with poor clinical outcomes. We report the case of a 57-year-old woman diagnosed with treatment-resistant depression (TRD) and comorbid FMD treated with weekly intranasal administrations of esketamine over a six-month follow-up period. A comprehensive clinical and psychometric assessment was carried out at different time points. After 2 months of treatment, a complete remission of motor and axial functional disturbances (athetosis, trunk torsion and genuflections) was detectable, along with a progressive improvement in depressive symptoms during follow-up until full remission. According to novel lines of evidence, glutamatergic transmission might play a role in the pathophysiology of FMD through aberrant limbic-motor interactions. We report that treatment with esketamine, a noncompetitive N-methyl-d-aspartate glutamatergic receptor antagonist, was associated with remission of FMD symptoms in a patient with TRD. Pharmacological compounds modulating brain glutamatergic activity may be of potential benefit in the clinical management of FMD.
Topics: Antidepressive Agents; Depression; Depressive Disorder, Major; Depressive Disorder, Treatment-Resistant; Female; Humans; Ketamine; Middle Aged
PubMed: 34825899
DOI: 10.1097/YIC.0000000000000378 -
Adapted Physical Activity Quarterly :... Jan 2022Research has recently examined the role of impairment onset on athlete development in Paralympic sport; however, less is known on how impairment type can impact athlete...
Research has recently examined the role of impairment onset on athlete development in Paralympic sport; however, less is known on how impairment type can impact athlete sporting pathways. In this study, 187 Australian and Canadian Paralympic sport athletes completed a survey. Participants were divided into the following four groups: impaired muscle power (n = 79); ataxia, athetosis, and hypertonia (n = 44); limb deficiencies (n = 42); and other physical impairments (n = 22). Mechanisms of initiation into Paralympic sport varied between groups with some drawn to sport through friends and/or family (i.e., limb deficiencies and other physical impairments groups) while others through talent search programs (i.e., ataxia, athetosis, and hypertonia group) or health care professionals/rehabilitation centers (i.e., impaired muscle power group). Results revealed no significant differences between groups in the chronological age or absolute years for achieving milestones. However, considering the high variability within the sample, more research is necessary to better understand how athletes with different physical impairments navigate through their sporting careers.
Topics: Athletes; Australia; Canada; Disabled Persons; Humans; Sports
PubMed: 34728588
DOI: 10.1123/apaq.2021-0107 -
Clinical Neurology and Neurosurgery Sep 2021William Alexander Hammond was an American military physician and a main driving force for the development of modern-day clinical Neurology in America. Hammond served as... (Review)
Review
William Alexander Hammond was an American military physician and a main driving force for the development of modern-day clinical Neurology in America. Hammond served as the 11th Surgeon General of the United States Army, acting during the Civil War. Throughout his time as Surgeon General, with influence from Florence Nightingale, Hammond enforced strict hygienic measures and called for the construction of pavilion style hospitals in order to decrease non-wound mortalities. He implemented further reformation of the American Medical Service that would improve efficiency and decrease general mortality for years to come. After his dismissal from the military service, Hammond continued to make meaningful achievements, spearheading the specialization of Neurology. He established the first private practice limited to diseases of the nervous system, published the first American Neurology textbook, coined the term "athetosis", and was the impetus for the formation of the American Neurological Association.
Topics: History, 19th Century; Humans; Military Medicine; Neurology; United States
PubMed: 34455404
DOI: 10.1016/j.clineuro.2021.106867 -
Journal of Stroke and Cerebrovascular... Oct 2021In general, involuntary movements after stroke are due to a disturbance in the unilateral cortico-basal ganglia loop and appear contralateral to stroke lesions. Crossed...
In general, involuntary movements after stroke are due to a disturbance in the unilateral cortico-basal ganglia loop and appear contralateral to stroke lesions. Crossed involuntary movements after unilateral stroke are very rare. We observed a case of crossed involuntary movements in the left upper limb and right lower limb after a right thalamic hemorrhage expanded to the right subthalamic nucleus. We considered a possible three-step theory as the basis of crossed choreoathetosis. This case informs our better understanding of the cortico-basal ganglia loop and involuntary movements after stroke.
Topics: Aged, 80 and over; Athetosis; Chorea; Hemorrhagic Stroke; Humans; Male; Movement; Thalamus
PubMed: 34418672
DOI: 10.1016/j.jstrokecerebrovasdis.2021.106049 -
Movement Disorders Clinical Practice Aug 2021
PubMed: 34405103
DOI: 10.1002/mdc3.13254