[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1]. / Síndrome cerebro-pulmón-tiroides en un recién nacido con deleción 14q12-q21.1.

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.

Athetoid Movements as Initial Manifestation of Primary Sjögren Syndrome.

Background: Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by exocrine gland and extraglandular symptoms. We present a case report of pSS with an initial presentation of athetoid movements. Case Report: A 74-year-old female presented with a 2-month history of slow undulating movements in her trunk and thighs that eventually spread to her neck and lower extremities. She also reported dry eyes, dry mouth, as well as pain in her shoulders and thighs. Her proinflammatory markers and rheumatologic profile were positive. Her salivary gland biopsy revealed a Focus score > 2. Brain magnetic resonance imaging was normal. A diagnosis of pSS was made. The patient's symptoms improved with hydroxychloroquine, pilocarpine, gabapentin, and clonazepam. Discussion: Clinicians should consider and screen for primary autoimmune disorders as a cause of subacute athetoid movements in elderly patients. Although aggressive treatment has been recommended, treatment should be tailored to each patient's specific needs.

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.

Occlusal characteristics in cerebral palsy patients.

PURPOSE: The purpose of this study was to evaluate the occlusal characteristics of 104 randomly selected, noninstitutionalized patients with a medical diagnosis of cerebral palsy (CP). METHODS: Patients were grouped according to the CP motor disorder and clinical patterns. Occlusal characteristics were collected by one examiner. Nonparametric statistical tests, including Fisher's exact test (P) and chi-square test were used. RESULTS: The results showed that Class II molars were statistically higher (P<.05) for spastic patients. Anterior open bite and an increased overjet were significant (P<.01) in spastic patients with clinical patterns of quadriplegia, double-hemiplegia, and diplegia. Double hemiplegia patients presented a higher incidence of open bite (64%) with an edge-to-edge overjet (45%). A deep overbite was presented in athetoid (50%) and ataxic (67%) patients. A high incidence of tooth wear was observed in the athetoid group (54%). CONCLUSION: Spastic patients presented a high incidence of open bite and Class II malocclusion. A low level of malocclusion was observed in the ataxic group compared to the other groups studied. Further studies would be useful to determine if neurological injuries can be the cause of changes of the craniofacial growth and development patterns resulting in malocclusion in cerebral palsy patients.

Pseudoathetosis: report of three patients.

We report on 3 patients with pseudoathetosis, which are involuntary, slow, writhing movements due to loss of proprioception.

Benign familial infantile seizures: further delineation of the syndrome.

Benign familial infantile seizures are an autosomal dominant epilepsy disorder that is characterized by convulsions, with onset at age 3 to 12 months and a favorable outcome. Benign familial infantile seizures have been linked to chromosome 19q whereas infantile convulsions and choreoathetosis syndrome, in which benign familial infantile seizure is associated with paroxysmal choreoathetosis, has been linked to chromosome 16p 12-q12. Many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Moreover, in one large pedigree with paroxysmal kinesiogenic dyskinesias only, the syndrome has also been linked to the same genomic area. Families with pure benign familial infantile seizures may be linked to chromosome 16 as well. In this study, we present a series of 19 families and 24 otherwise healthy infants with benign familial infantile seizures. Two of these families include members affected with benign familial infantile seizures and paroxysmal choreoathetosis. We included patients with normal neurologic examinations, who started having simple partial seizures, complex partial seizures, or apparently generalized seizures without recognized etiology between 2 months and 2 years of age. Neurologic studies were normal, but in all patients, there was a history of similar seizures and age at onset in either the father or the mother. Twenty-four patients (14 girls and 10 boys) were evaluated at our hospital between February 1990 and February 2001. Age at onset, sex, family history of epilepsy and/or paroxysmal dyskinesias, neurologic examination, semiology, distribution, and frequency and duration of seizures were evaluated. Electroencephalographic (EEG) and neuroradiologic studies were also performed. Seizures began between 3 and 22 months of life, with a median age of 5 1/2 months. Nine patients (37.5%) had only apparently generalized seizures, 5 patients (20.8%) had only partial seizures, and 10 patients had both partial and apparently generalized seizures (41.6%). Seizures were invariably brief, occurred during the waking state (100%), and presented mainly in clusters in 12 patients (50%). Interictal EEG was normal in 23 patients (95.8%). Sixteen patients (66.6%) had a confirmed history of convulsions in family members other than parents. Twenty-two patients became seizure free after 30 months of life. Two brothers in the same family had brief paroxysmal episodes of choreoathetosis in the hemibody triggered by stress while awake at 15 and 17 years old, respectively. One of them had paroxysmal choreoathetosis only, and the other was associated with benign familial infantile seizures. One father had brief spontaneous episodes of paroxysmal choreoathetosis when awake at age 18 years. All of them had a good response to antiepilepsy drugs, and neurologic examination and EEG and neuroradiologic studies were normal. Benign familial infantile seizure is a genetic epilepsy syndrome with autosomal dominant inheritance. It may be associated with paroxysmal choreoathetosis (infantile convulsions and choreoathetosis syndrome), which has been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Patients in families with infantile convulsions and choreoathetosis syndrome could display either benign familial infantile seizures or paroxysmal choreoathetosis or both. It is likely that the disease in families with pure benign familial infantile seizures may be linked to the infantile convulsions and choreoathetosis region as well. We cannot exclude the possibility that the youngest patients may develop choreoathetosis or other dyskinesias later in life.

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.

Acute neurologic decompensation in an infant with cobalamin deficiency exposed to nitrous oxide.

After exposure to nitrous oxide, an infant with unrecognized cobalamin deficiency developed neurologic deterioration and pancytopenia. Hematologic recovery and partial resolution of his neurologic changes followed repletion of the vitamin. Nitrous oxide depletes bioavailable cobalamin and may be a dangerous anesthetic in patients with cobalamin deficiency.

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

[Ataxic instable Alajouanine-Akerman's hand: recovery of a semiologic sign]. / Mão instável atáxica de Alajouanine-Akerman. Resgate de um sinal semiológico.

It is aimed to recover, considering its historical value, a semiological sign described in 1931 by an eminent neurologist of Rio de Janeiro, together with a master of the French neurology. In the article by Alajouanine and Akerman, named "Attitude of the hand in an astereognostic monobrachial crisis of multiple esclerosis", a semiologic alteration was described which was characterized by "an instability in the attitude of the fingers, which is observed mainly with the hand extended in the attitude of swearing". This attitude of hand worsened a lot with the eyes closed and was accompanied by sensory ataxia, astereognosis, and impaired deep sensation in the affected member. From the original article, it is possible to consider at the present time the described semiologic alteration as a form of pseudoathetosis localized in the hand.

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.

Choreoathetosis after cardiac surgery with hypothermia and extracorporeal circulation.

Eleven children, 4-48 months old, with congenital cyanotic heart defects developed choreoathetoid movements 2-12 days after cardiac surgery with hypothermia and extracorporeal circulation (ECC). The abnormal movements mainly involved the limbs, facial musculature, and tongue, leading to a severe dysphagia. The symptoms had an acute onset, after a period of apparent neurologic normality, and had a variable outcome. Of the nine children that survive, three had abnormal movements when last seen (41 days to 12 months of follow-up). The other six children had a complete regression of the choreoathetoid movements 1-4 weeks after onset. No specific finding was observed in the CT scans, cerebrospinal fluid examination, or EEG that could be related to the abnormal movements. Symptomatic therapy with haloperidol with or without benzodiazepines led to symptomatic improvement in six children, although there was no evidence that this treatment modified the evolution of the disease. The authors conclude that the choreoathetoid syndrome after cardiac surgery with deep hypothermia and ECC is an ill-defined entity requiring additional study to better understand its pathogenesis so that preventive measures can be taken to avoid a condition that can lead to permanent and incapacitating neurologic sequelae.

[Kinesigenic paroxysmal choreoathetosis. Report of a case treated with carbamazepine]. / Coreoatetose paroxística cinesiogênica. Relato de um caso tratado com carbamazepina.

Paroxysmal choreoathetosis (PC) is a rare entity, and professionals who study movement disorders do not find it easily. Paroxysmal occurrence of dystonic, choreic, athetosic movements is the typical feature of this syndrome. The onset is always subtle and the attacks can last from few seconds to hours. Sporadic cases and more common familial cases have been reported. The therapeutic approach with anticonvulsant drugs like carbamazepine is not always successful. However, there is a good response to this drug in the kinesigenic form of PC. The case of a 21 years old male patient is reported here. The onset occurred during puberty, at 14 years old. Neurologic examination was normal between attacks. Subtle and brief choreic, athetosic and dystonic limb and legs movements precipitated by sudden quick and unexpected passive movements, as by startle, were observed during the attacks. There was no familial history. Routine laboratorial investigation, EEG, CT scan and MRI did not show significant changes. Carbamazepine in low dosages (100 mg/day) brought a complete control of the attacks.

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

Choreoathetosis after surgery for congenital heart disease.

Choreoathetosis developed in three patients after cardiopulmonary bypass with hypothermia. None had significant hypotension or hypoxemia; all had hypocapnia and respiratory alkalosis during the rewarming period. We postulate that hypocapnia-induced cerebral vasoconstriction may have contributed to ischemic damage in focal central nervous system areas.