RESUMEN
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.
Asunto(s)
Atetosis/etiología , Corea/etiología , Accidente Cerebrovascular Hemorrágico/complicaciones , Movimiento , Tálamo/irrigación sanguínea , Anciano de 80 o más Años , Atetosis/diagnóstico , Atetosis/fisiopatología , Corea/diagnóstico , Corea/fisiopatología , Accidente Cerebrovascular Hemorrágico/diagnóstico por imagen , Humanos , MasculinoRESUMEN
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.
Asunto(s)
Atetosis/diagnóstico , Corea/diagnóstico , Deleción Cromosómica , Cromosomas Humanos Par 14/genética , Hipotiroidismo Congénito/diagnóstico , Hipoxia/genética , Hipotonía Muscular/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Combinación Amoxicilina-Clavulanato de Potasio/administración & dosificación , Atetosis/complicaciones , Atetosis/genética , Atetosis/terapia , Corea/complicaciones , Corea/genética , Corea/terapia , Hipotiroidismo Congénito/complicaciones , Hipotiroidismo Congénito/genética , Hipotiroidismo Congénito/terapia , Nutrición Enteral , Fluidoterapia , Pruebas Genéticas , Humanos , Hipoxia/diagnóstico , Hipoxia/terapia , Lactante , Intubación Gastrointestinal , Pulmón/diagnóstico por imagen , Masculino , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/terapia , Oxígeno/administración & dosificación , Síndrome de Dificultad Respiratoria del Recién Nacido/complicaciones , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Factor Nuclear Tiroideo 1/genética , Tomografía Computarizada por Rayos XRESUMEN
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 3150âg. 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.
Asunto(s)
Atetosis/genética , Corea/genética , Hipotiroidismo Congénito/genética , Proteína C/metabolismo , Surfactantes Pulmonares/metabolismo , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Factor Nuclear Tiroideo 1/genética , Atetosis/sangre , Atetosis/diagnóstico , Atetosis/terapia , Corea/sangre , Corea/diagnóstico , Corea/terapia , Hipotiroidismo Congénito/sangre , Hipotiroidismo Congénito/diagnóstico , Hipotiroidismo Congénito/terapia , Resultado Fatal , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Trastornos de Alimentación y de la Ingestión de Alimentos/etiología , Humanos , Hipotiroidismo/diagnóstico , Hipotiroidismo/etiología , Hipoxia/diagnóstico , Hipoxia/etiología , Recién Nacido , Cariotipificación , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/etiología , Masculino , Mutación , Cuidados Paliativos/métodos , Recurrencia , Síndrome de Dificultad Respiratoria del Recién Nacido/sangre , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Síndrome de Dificultad Respiratoria del Recién Nacido/terapiaAsunto(s)
Atetosis/diagnóstico , Neoplasias Encefálicas/diagnóstico , Corea/diagnóstico , Linfoma de Células B Grandes Difuso/diagnóstico , Atetosis/etiología , Neoplasias Encefálicas/complicaciones , Corea/etiología , Humanos , Cápsula Interna/patología , Linfoma de Células B Grandes Difuso/complicaciones , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Paresia/diagnóstico , Paresia/etiología , Núcleo Subtalámico/patología , Tegmento Mesencefálico/patología , Tálamo/patologíaAsunto(s)
Atetosis/complicaciones , Encefalitis por Herpes Simple/complicaciones , Tálamo/patología , Atetosis/diagnóstico , Encefalitis por Herpes Simple/líquido cefalorraquídeo , Encefalitis por Herpes Simple/diagnóstico , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Lóbulo Occipital/patologíaRESUMEN
Magnetic resonance imaging and neuropathologic studies have demonstrated remarkably selective patterns of injury to subregions of the basal ganglia in children. Examples are kernicterus and certain mitochondrial encephalopathies, which cause selective injury to the globus pallidus, and near-total perinatal asphyxia, which causes lesions in the putamen and thalamus. To explain the differential vulnerability of nuclei within millimeters of each other, we hypothesize that their locations within the neurotransmitter-specific circuitry of the basal ganglia motor loop are important. In severe hypoxic-ischemic encephalopathy, excitatory glutamatergic pathways into the putamen and thalamus are overactive, but the globus pallidus might be protected because its activity is silenced by inhibitory neuronal activity. In contrast, the relatively high resting neuronal activity in the globus pallidus might make it more vulnerable to less intense, subacute oxidative stresses from mitochondrial toxins such as bilirubin or from genetic mitochondrial disorders. This hypothesis has implications for designing neuroprotective therapies and for treating associated chronic movement disorders.