Leigh syndrome in an infant: autopsy and histopathology findings

Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.

Neumonía criptogénica organizada cavitada y anormalidades de los ganglios basales: presentación de un caso / Cavitary cryptogenic organizing pneumonia and abnormalities of the basal ganglia: case presentation

La Neumonía Criptogénica Organizada (NCO) es una enfermedad pulmonar con un amplio espectro de características radiológicas. Se presenta el caso de una paciente joven de 16 años, con aparición en TAC de múltiples nódulos cavitados en ambos pulmones, que respondió con completa resolución luego de terapia con corticosteroides. Esta paciente también presentó anormalidades en los ganglios de la base como resultado de encefalopatía hipóxico – isquémica asociada con la presentación aguda de esta entidad. Justificamos la inclusión de NCO en el diagnóstico diferencial de múltiples nódulos cavitados, y se discuten los diagnósticos diferenciales de sus anormalidades a nivel de los ganglios de la base.

Idiopathic basal ganglia calcification with bipolar mood disorder presentation

Fahr's disease is a progressive and idiopathic basal ganglia calcification with normal metabolism of calcium and phosphor with motor and psychiatric signs and symptoms. Dementia, chorea athetosis, psychosis and depression due to Fahr's disease are frequently reported, but Fahr's disease with bipolar mood disorder manifestation is very rare and we found only 3 case in review of literature from 1955 to 2005.In this case report, a 21-year old girl is presented who was admitted to Sari-Zare psychiatric hospital for aggression, restlessness and insomnia. After mental status examination and Para clinical investigation, bipolar disorder due to Fahr's disease was detected. To date no specific treatment was found for this disease. This point is important that the patients with Fahr,s disease are sensitive to neuroleptic malignant syndrome

The Neuroradiological Findings of Children with Developmental Language Disorder

PURPOSE: To investigate the general characteristics of glucose metabolism distribution and the functional deficit in the brain of children with developmental language delay (DLD), we compared functional neuroradiological studies such as positron emission tomography (PET) of a patient group of DLD children and a control group of attention- deficit hyperactivity disorder (ADHD) children. PATIENTS AND METHODS: Seventeen DLD children and 10 ADHD children under 10 years of age were recruited and divided into separate groups consisting of children less than 5 years of age or between 5 and 10 years of age. The PET findings of 4 DLD children and 6 control children whose ages ranged from 5 to 10 years were compared by Statistical Parametric Mapping (SPM) analysis. RESULTS: All of the DLD children revealed grossly normal findings in brain MRIs, however, 87.5% of them showed grossly abnormal findings in their PET studies. Abnormal findings were most frequent in the thalamus. The patient group showed significantly decreased glucose metabolism in both frontal, temporal and right parietal areas (p < 0.005) and significantly increased metabolism in both occipital areas (p < 0.05) as compared to the control group. CONCLUSION: This study reveals that DLD children may show abnormal findings on functional neuroradiological studies, even though structural neuroradiological studies such as a brain MRI do not show any abnormal findings. Frequent abnormal findings on functional neuroradiological studies of DLD children, especially in the subcortical area, suggests that further research with quantitative assessments of functional neuroradiological studies recruiting more DLD children and age-matched normal controls could be helpful for understanding the pathophysiology of DLD and other disorders confined to the developmental disorder spectrum.

Kernicterus: relato de caso - breve revisão de literatura / Kernicterus: report of a case - brief review of the literature

Kernicterus é uma afecção decorrente de lesão neurológica por deposição de bilirrubina indireta nos núcleosda base que apresenta quatro períodos clínicos. O segundo período caracteriza-se por hipertonia dos músculosextensores e opistótono. As seqüelas mais comuns são atetose, distonia, sinais cerebelares ou labirínticos,surdez, paresia do olhar conjugado para cima e alterações intelectuais. A prevenção dessa doença épossível a partir da triagem dos fatores de risco para hiperbilirrubinemia. O presente relato tem como objetivodescrever a evolução clínico-laboratorial de um recém-nascido do sexo feminino em fase 2 de kernicterus

Enfermedad de los tics: síndrome de Gilles de la Tourette: características clínicas de 70 pacientes / Gilles de la Touretteïs syndrome: clinical review and analysis of 70 chilean patients

Background: Tourette's syndrome is a childhood-onset hereditary neurobehavioural disorder believed to occur without geographical restrictions. Although there have been reports of this disorder worldwide just a few are from Latin America. Aim: To report a preliminary experience with a series of 70 patients and to review recent advances in this disorder. Patients and Method: We reviewed patients seen in pediatric and adult neurological clinics in Santiago, Chile, all of whom fulfilled clinical diagnostic criteria for Tourette Syndrome. Results: Seventy patients were studied, 54 males (77.1 percent) and 16 females (22.8 percent), their mean age at first evaluation was 13.6 years (range 2-46). The mean age of onset of symptoms was 6.4 (range 2-20), the mean time of follow-up was 3 years. Fifty-eight patients showed simple motor tics (blinking, facial grimacing, shoulder shrugging), whereas dystonic tics like head jerking were seen in 38 patients, torticollis in 6 and oculogyric movements in 2. Complex motor tics like jumping, antics, trunk bending and head shaking were present in 16 subjects. Vocal tics were predominantly of the simple type: sniffing, throat clearing, blowing, and whistling. Complex vocal tics were seen in 12 patients, five cases showed palilalia, 3 echolalia and only six displayed coprolalia (8.5 percent). Tics were of mild to moderate severity in most patients. Obsessive-compulsive disorder was observed in 22.8 percent and attention deficit and hyperactivity disorder were present in 35.7 percent. Forty-five patients (64.2 percent) had a first degree relative with tics, nine patients (12.8 percent) had a family history of obsessive-compulsive disorder. The current evidence involving desinhibition of cortico-striatum-thalamic-cortical neuronal circuits in the pathogenesis of this disorder is analyzed. Conclusion: Our report supports the recognized clinical homogeneity and genetical basis of TouretteÕs syndrome regardless of geographical region and ethnic origin

Síndromes coréicos y coreoatetósicos / Choreic and choreoathetosic syndromes

El autor presenta recuento anatómico y funcional de los ganglios basales, una breve reseña de las principales patologías coréicas y coreiformes, una clasificación completa de las coreoatetosis con su tratamiento convencional , y una novedad terapéutica. La mezcla de 2mg., de perfenezina con amitriptilina de 25 mg, en dosis acordes a la edad-redujo considerablemente los movimiemtos involuntarios de ocho de diez niños con sévera coreoatetosis. Uno de los dos inmejorables, con la medición, sufría además de deficiencia mental. Pese a que no hubo un estudio doble ciego con placebo, es indudable que esta medicación produce disminución significativa de los movimientos involuntarios los cuales entorpecen, e inclusive anulan el cuncionalismo del niño coreatetósico severo. La medicación, extrañamente, también tiene déficit intelectual.