Crossed Choreoathetosis Caused by Unilateral Thalamic Hemorrhage.

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.

Hypoxaemia and interstitial lung disease in an infant with hypothyroidism and hypotonia.

A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and pulmonary hypertension in the neonatal period requiring assisted ventilation, congenital hypothyroidism, mild hypotonia, recurrent respiratory infections, hypoxaemia requiring supplemental oxygen and nasogastric tube feeds. Physical examination showed tachypnoea, coarse bilateral breath sounds and mild hypotonia. Chest radiograph revealed multifocal pulmonary opacities with coarse interstitial markings and right upper lobe atelectasis. Following antibiotic therapy for suspected aspiration pneumonia, chest CT scan was performed and showed multiple areas of pulmonary consolidation and scattered areas of bilateral ground-glass opacities. Genetic studies showed a large deletion of chromosome 14q13.1-14q21.1, encompassing the NK2 homeobox 1 (NKX2-1) gene consistent with a diagnosis of brain-thyroid-lung (BTL) syndrome. Our case highlights the importance of genetic studies to diagnose BTL syndrome in infants with hypothyroidism, hypotonia and lung disease.

Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.

RATIONALE: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. PATIENT CONCERNS: Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150 g. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability. DIAGNOSIS: Genetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes. INTERVENTIONS: The patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures. OUTCOMES: The patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died. LESSONS: Combined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.

A systematic review of scales to measure dystonia and choreoathetosis in children with dyskinetic cerebral palsy.

AIM: To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP). METHOD: Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years. RESULTS: Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale. INTERPRETATION: Each scale provides useful information about dyskinesia, with most focusing on dystonia. The Barry-Albright Dystonia Scale, which was designed for CP, is the most commonly reported scale and least complex to use clinically. The Dyskinesia Impairment Scale is the only tool to consider both dystonia and choreoathetosis in CP. All tools are designed to classify movement disorders at the level of body functions and structures, rather than activity limitations or participation restrictions, although many provide some insight into the impact of dystonia on activities. Further studies are required to fully examine the validity, reliability, responsiveness, and clinical utility of each scale specifically for children with CP.

Hemichorea in a patient with HIV-associated central nervous system histoplasmosis.

Central nervous system histoplasmosis is a rare opportunistic infection with a heterogeneous clinical presentation. We describe the first case of human immunodeficiency virus-associated cerebral histoplasmosis presenting with hemichorea. The patient recovered after treatment with conventional amphotericin B and itraconazole.

The Dyskinesia Impairment Scale: a new instrument to measure dystonia and choreoathetosis in dyskinetic cerebral palsy.

AIM: The aim of this study was to examine the reliability and validity of the Dyskinesia Impairment Scale (DIS). The DIS consists of two subscales: dystonia and choreoathetosis. It measures both phenomena in dyskinetic cerebral palsy (CP). METHOD: Twenty-five participants with dyskinetic CP (17 males; eight females; age range 5­22y; mean age 13y 6mo; SD 5y 4mo), recruited from special schools for children with motor disorders, were included. Exclusion criteria were changes in muscle relaxant medication within the previous 3 months, orthopaedic or neurosurgical interventions within the previous year, and spinal fusion. Interrater reliability was verified by two independent raters. For interrater reliability, intraclass correlation coefficients were assessed. Standard error of measurement, the minimal detectable difference, and Cronbach's alpha for internal consistency were determined. For concurrent validity of the DIS dystonia subscale, the Barry­Albright Dystonia Scale was administered. RESULTS: The intraclass correlation coefficient for the total DIS score and the two subscales ranged between 0.91 and 0.98 for interrater reliability. The reliability of the choreoathetosis subscale was found to be higher than that of the dystonia subscale. The standard error of the measurement and minimal detectable difference values were adequate. Cronbach's alpha values ranged from 0.89 to 0.93. Pearson's correlation between the dystonia subscale and Barry­Albright Dystonia Scale was 0.84 (p<0.001). INTERPRETATION: Good to excellent reliability and validity were found for the DIS. The DIS may be promising for increasing insights into the natural history of dyskinetic CP and evaluating interventions. Future research on the responsiveness of the DIS is warranted.

Escalas de compromiso funcional y de movimientos involuntarios en extremidades superiores en niños con trastornos de movimiento de tipo extrapiramidal / Scales evaluating functional compromise and involuntary upper extremity movements in children with extra pyramidal disorders

Introducción. Los niños con parálisis cerebral de tipo extrapiramidal requieren de una evaluación funcional global que mida cambios antes, durante y después de tratamientos. Objetivo. Validar dos escalas de evaluación: compromiso funcional global y tipo de movimiento involuntario predominante en extremidades superiores. Pacientes y método. 63 pacientes seleccionados aleatoriamente de Teleton-Santiago-Chile-2006, diagnóstico parálisis cerebral, alteración de movimiento de tipo extrapiramidal, de 4–18 años, que cumplieron requisitos de inclusión; se aplicó escala de compromiso funcional (con dimensiones: postura sedente, actividades de la vida diaria y funcionalidad manual) y escala de movimientos Involuntarios (atetosis, coreatetosis y distonía). Resultados. La escala de compromiso funcional muestra alta consistencia interna (α Cronbach 0,94), valor kappa de variabilidad entre observadores de 0,78; validez de constructo constituido por 2 componentes principales que explicaron 75,7% de la funcionalidad. La escala clasificó a los niños en 46% como grave o severo, 25,4% como moderado, 20,6% como leve y sólo al 7,9% como clínicamente normal. La escala de movimientos involuntarios registró confiabilidad con valor kappa de 0,85 y consistencia interna de 0,97; clasificó como distónicos al 38,1% de los niños, coreatetósicos el 33,3% y 28,9% como atetósicos. Conclusión. Las escalas demostraron ser confiables y válidas por lo tanto, pueden ser utilizadas como ayuda en la planificación y evolución terapéutica(AU)

Introduction. Children with extrapyramidal cerebral palsy require a comprehensive functional assessment that records their functions before, and measures the changes during and after the treatments. Objective. Validate two assessment scales: global functionality and type of predominant unintentional movement in upper extremities. Patients and method. 63 patients were randomly selected from Teleton-Santiago-Chile-2006, diagnosed with cerebral palsy, extrapyramidal type alteration movement, 4 to 18 years, which met the inclusion requirements: they were evaluated with the functional compromise scale (with dimensions: sitting posture, daily living activities, and manual functionality) and with the involuntary movements scale (athetosis, choreathetosis and dystonia). Results. The scale of functional assessment shows high internal consistency (α Cronbach 0.94), a kappa value of variability among observers of 0.78, and construct validity, which consists of two main components that explained 75.7% of the functionality. The scale ranked children as: 46% as serious or severe, 25.4% as moderate, 20.6% as mild, and only 7.9% as normal. The scale of involuntary movements showed high reliability with kappa value of 0.85 and internal consistency of 0.97, and ranked 38.1% of the children as dystonic, 33.3% as choreathetosics, and 28.9% as athetosics. Conclusion. The scales proved to be reliable and valid therefore can be used as an aid in planning and therapeutic evaluation(AU)