A case of brain-lung-thyroid syndrome / 中南大学学报(医学版)

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 NKX2-1 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.

Enfermedad de FAHR una causa infrecuente de calcificaciones cerebrales / Fahr disease an infrequent cause of brain calcifications

Se ilustra el caso de una paciente con episodios convulsivos, movimientos anormales y déficit cognitivo de varios meses de evolución. En la tomografía axial computarizada se evidenciaron lesiones ganglio basales, paraventriculares, sustancia blanca y cerebelo; clínicamente presentó síntomas típicos de la enfermedad de Fahr y con estudios de laboratorio complementarios se descartaron otras causas.

This is the case of an patient with convulsive episodes, abnormal movements and cognitive deficit of several months of evolution. The axial computed tomography demonstrated injuries ganglion basal, paraventriculares,white substance and cerebellum; presenting clinical symptoms of Fahr’s disease and with laboratory studies thatreject other pathologies of similar characteristics.

Relapse of herpes simplex encephalitis presenting as choreoathetosis.

We report a case of herpes simplex virus (HSV) encephalitis (HSE) in an 11-year-old boy who recovered with acyclovir therapy but developed relapse after 2 weeks. Choreoathetosis was the presenting feature of relapse. Response to antiinflammatory treatment was excellent. To the best of our knowledge, this is the first case of HSE relapse presenting with choreoathetosis reported from India. We describe the patient and review the literature on HSE and HSE relapse.

Uncommon Neurological Presentation due to Non-Ketotic Hyperglycemia (NKH) –Report to two cases.

Two patients of uncommon neurological presentation due to non-ketotic hyperglycemia (NKH) are being described in this report. Generalized choreo-athetosis and epilepsia partialis continua as presenting symptoms in non-ketotic hyperglycemia is rare. The abnormal movements responded completely to insulin therapy. In acute onset of abnormal movements, besides other causes, metabolic disorders such as non-ketotic hyperglycemia should also be ruled out as they are treatable.

Introdução de comunicação suplementar em paciente com paralisia cerebral atetóide / The use of augmentative communication with a patient with athetoid cerebral palsy

Tema: importância do uso de recursos alternativos/suplementares visando melhor condição de comunicação. Objetivo: ressaltar importância desta área, enfatizando critérios imprescindíveis para indicação e seleção do sistema de comunicação suplementar e/ou alternativa (SCSA). Método: relatou-se o início do trabalho de indicação de comunicação suplementar e/ou alternava (CSA) a uma criança com PC atetóide, de 6;4 anos. Resultados: considerando aspectos da patologia, cognição, quadro motor, dentre outros avaliados, determinou-se o sistema (Bliss), tamanho e disposição das figuras. Conclusão: o trabalho com a CSA repercute de maneira muito mais ampla do que simples e unicamente a assimilação de símbolos do sistema, propicia estimulação do desenvolvimento de linguagem e cognição.

Meningoencefalitis por cryptococcus: reporte de un caso clínico y revisión de la literatura / Cryptococcal meningoencefalitis: a clinical case report and literature review

La infección por cryptococcus en el niño es muy infrecuente especialmente si es inmunocompetente. Se presenta un preescolar inmunocompetente con meningoencefalitis grave con líquido cefalorraquídeo claro y signos neurológicos de focalización, tratado como meningoencefalitis herpética. Evolucionó inicialmente con leve mejoría, reingresando por aumento del compromiso neurológico. Se amplió el estudio etiológico y se detectó cryptococcus en el LCR. Se comenta el cuadro clínico de la meningoencefalitis cryptococócica su diagnóstico y revisión de la literatura. Nos parece aconsejable incluir el test de tinta china en toda meningoencefalitis a líquido claro de etiología no precisada

Two Cases of Pelizaeus-Merzbacher Disease

Pelizaeus-Merzbacher disease (PMD) is a rare sudanophilic leukodystrophy with a reduced number of mature oligodendrocytes as well as diffuse central nervous system hypomyelination (dysmyelination) due to abnormal synthesis of proteolipid protein. PMD is characterized with pendular nystagmus, stridor, delay in psychomotor development, hypotonia, ataxia, athetosis and extrapyramidal signs. Abnormal high signal intensity is shown in the entire white matter of cerebrum and cerebellum at early stage by T2-weighted magnetic resonance imaging (MRI). We report two cases of PMD diagnosed with characteristic clinical manifestations and brain MRI findings.

Mäo instável atáxica de alajouanine-akerman: resgate de um sinal semiológico / Ataxic instable hand of Alajouanine-Akerman: recovery of a semiologic sign

Objetiva-se resgatar, considerando o seu valor histórico, um sinal semiológico descrito em 1931 por eminente neurologista do Rio de Janeiro, em parceria com um mestre da neurologia francesa. No artigo de Alajouanine e Akerman, intitulado "Atitude de mão em um surto monobraquial astereognósico da esclerose em placas", foi descrita uma alteração semiológica caracterizada por "uma instabilidade na atitude dos dedos, que se observa sobretudo com a mão estendida na atitude de juramento". Essa atitude da mão se exagerava muito com os olhos fechados e estava acompanhada por ataxia sensitiva, astereognosia e comprometimento da sensibilidade profunda no membro acometido. A partir do artigo original, é possível atualmente considerar-se a alteração semiológica descrita como uma forma de pseudoatetose localizada na mão.

Respiration Patterns and Abdominal Muscle Activities during Speech Production in Athetoid Cerebral-Palsied Patients

OBJECTIVE: To evaluate the relationship of the respiration patterns and the abdominal muscle activities during various speech productions in the adults with athetoid cerebral palsy (CP). METHOD: Subjects were 7 athetoid CPs and 7 healthy controls. Respirography and abdominal muscle activities were recorded by use of the pneumobelt and the surface EMG during their performances of six kinds of non-speech and speech tasks. RESULTS: The followings were observed in the athetoid CP. 1) Respiratory phase was irregular and variable in the intensity and period of revolution. The frequency of the respiratory phase was not different from the control in usual respiration, but higher in deep breathing. The time to persist one vowel phonation was shorter. 2) Inappropriate and frequent inspirations were occurred during speech task and the number of syllables was fewer and irregular for one speech breath. 3) The abdominal muscle activities were abrupt, irregular, inconsistent with the respiratory phase during all kinds of non-speech and speech tasks. CONCLUSION: These findings suggest that the abnormal respiration patterns and abdominal muscle activities contribute to the abnormal speech production of athetoid CP and their incoordination is similar to athetoid movement of the extremities. We should consider the athetoid speech production as well as the dysarthria in the athetoid CP.

A Case of Chorea in the Recovery Phase of Pneumococcal Meningitis

Movement disorders (chorea, athetosis, ballism) are a rare complication that develops during the course of bacterial meningitis although associations with tuberculous meningitis are established to some extent. Movement disorders are generally believed to reflect injury to the basal ganglia, thalamus, cerebellum and cerebral cortex. Ischemic infarctions of these areas have been proposed as the cause of dyskinesias in bacterial meningitis. We experienced a case of chorea which developed in the recovery phase of pnemococcal meningitis in a 37-month-old boy. The choreic movement was initially misinterpreted as a seizure, and anticonvulsants were administered. The movement continued during the alert state in spite of anticonvulsant therapy but subsided during sleep. EEG showed severely depressed background activitiy with no epileptiform discharge. When the movement was recognized as a choreic movement, anticonvulsants were withheld and haloperidol was administered orally. The abnormal movement gradually disappeared in 3 months. But like the two other previously reported cases of postmenigitic movement disorders, this patient shows severe impairment in cognitive and motor function in the 10 months of follow up. He can only recognize some close persons and can not control the trunk and extremities well. The movement disorder which develops in the recovery phase and lasts for a long period may be associated with poor neurologic prognosis.

Effects of Botulinum Toxin A Treatment in Cerebral Palsy

The purpose of this study is to evaluate the effects of intramuscular botulinum toxin A injection in cerebral palsy. We studied 25 children with cerebral palsy(age 3 to 20 years old). Among them, 14 children were spastic diplegia; 5 were athetoid quadriplegia; 3 were spastic hemiplegia; and 3 were mixed type(spasticity and athetosis). Botulinum toxin A was injected into the target muscle groups with electromyographic guidance. The dose was calculated in unit/body weight basis. Followup assessments were performed at 1 and 3 months after injection. After injection, 11 out of 16 children(68.8%) had a one-level improvement in ambulatory status. The passive range of joint motion increased significantly after injection. Modified Ashworth scale decreased significantly after injection. In 23 out of 25 children, there were a significant increase of the mean GMFM(gross motor function measure) total score and mean GMFM scores for all dimensions at three months after injection. There were the distant effects after injection in spastic diplegia. In conclusion, botulinum toxin A tretment would improve the motor function and ambulatory status in cerebral palsy by reducing hypertonicity, spasticity, dynamic contracture and athetoid movement.

Paroxysmal kinesigenic choreoathetosis

Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements, and is a well-known disease in the neurologic literature, but only 4 cases have been reported in Korea. The purpose of the presentation is to clarify the clinical features of PKC in Korea. We clinically analyzed 20 patients with PKC between 1986 and 1994 at Yongdong Severance Hospital, Yonsei Medical Center, with a minimum of a 1 to 2 year follow-up period. There were 14 men and 6 women. The age at onset of the condition ranged from 8 to 17 years (mean, 13.1 years). Six patients (30%) had a family history of the condition and the mode of inheritance was suggestive of an autosomal recessive pattern. The involuntary movements seemed to be dystonic rather than choreoathetonic upon a mild attack, and the paroxysms were precipitated by sudden movements. The attacks occurred on one or both sides, and were often associated with dysarthria, upward gaze and sensory aura. Consciousness was never lost. Their duration were usually 10 to 30 seconds, and never more than two minutes. All laboratory tests including electroencephalographic and neuroimaging studies showed no abnormality. All patients responded well to diphenylhydantoin. PKC is not rare in Korea and has a benign course.

A Case of Athetosis in Basal Ganglia Calcification Associated with Hypoparathyroidism

Extrapyramidal tract motor disorder in calcification of basal ganglia probably occurs when the deposition of acid mucopolysaccharides in the basal ganglia is severe enough to lead to neuronal loss. Basal ganglia calcification has been noted to occur with higher incidence and intensity in encephalitis lethargica, carbon monocide intoxication, anoxia, tuberous sclerosis, toxoplasmosis, hypothyroidism and hypoparathyroidism. The neurologic disorder is frequently reversible with treatment in patients with basal ganglia calcification who have hypoparathy-roidism. We report a patient with idiopathic hypoparathyroidism associated with bilateral calcification of the basal ganglia and athetoid movement. This is the first case report in Korea.

Coreoatetose paroxística cinesiogênica: relato de um caso tratado com carbamazepina / Kinesigenic paroxysmal choreoathetosis: report of a case treated with carbamazepina

A coreatetose paroxística (CP) é entidade rara. Até mesmo profissionais que estudam desordens do movimento näo costumam vê-la com freqüência. A ocorrência paroxística de moviemtnos distônicos, coréicos e atetósicos é a apresentaçäo típica da síndrome. O início costuma ser abrupto e os ataques podem durar de alguns segundos até horas. Casos esporádicos e, mais frequentemente,casos familiares têm sido relatados. A abordagem terapêutica com anticonvulsivantes, como a carbamazepina, nem sempre tem sucesso. Com esta droga, porém, geralmente há boa resposta na variante cinesiogênica da CP. É relatado o caso de um paciente jovem do sexo masculino com essa variante da CP. O início da doença se deu na puberdade. O exame neurológico era normal entre os ataques. A investigaçäo laboratorial, EEG, TC de crânio e RNM de segmento cefálico foram normais. Carbamazepina em doses baixas (100 mg/dia) foi eficaz no manejo dos ataques

A Case of Neuroleptic Malignant Syndrome associated with Choreoballism due to the Delayed Complication of Carbon Monoxide Intoxication

Neurologic complications such as mental status changes, incontinence, gait disturbances, extrapyramidal symptoms may be delayed days or weeks after exposure to carbon monoxide but hyperkinesia such as choreoballism and athetosis rarely occurs as symptoms of delayed neurologic complication of carbon monoxide intoxication. Neuroleptic malignant syandrome (NMS) is a rare, potentially fatal drug-induced disorder associated with hyperthermia, muscle rigidity, autonomic instability, mental dysfunction and various dyskinesia. Various major neuroleptic drugs seem to be its culprits. We describe a 24-year-old female patient who presented with NMS following administration of haloperidol for choreoballism, a symptom of delayed neurologic sequelas after carbon monoxide intoxication, with a review of the literature.