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Background: People with Huntington's disease (HD) exhibit neurocognitive alterations throughout the disease, including deficits in social cognitive processes such as Theory of Mind (ToM). Objective: The aim is to identify methodologies and ToM instruments employed in HD, alongside relevant findings, within the scientific literature of the past two decades. Methods: We conducted a comprehensive search for relevant papers in the SCOPUS, PubMed, APA-PsyArticles, Web of Science, Redalyc, and SciELO databases. In the selection process, we specifically focused on studies that included individuals with a confirmed genetic status of HD and investigated ToM functioning in patients with and without motor symptoms. The systematic review followed the PRISMA protocol. Results: A total of 27 papers were selected for this systematic review, covering the period from 2003 to 2023. The findings consistently indicate that ToM is globally affected in patients with manifest motor symptoms. In individuals without motor symptoms, impairments are focused on the affective dimensions of ToM. Conclusions: Based on our analysis, affective ToM could be considered a potential biomarker for HD. Therefore, it is recommended that ToM assessment be included as part of neuropsychological evaluation protocols in clinical settings. Suchinclusion could aid in the identification of early stages of the disease and provide new opportunities for treatment, particularly with emerging drugs like antisense oligomers. The Prospero registration number for this review is CRD42020209769.

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Many emotions are generated within a medical consultation. These feelings are often shared among the doctor, patient, and family. In this piece, these emotions are explored as I describe them deeply during my first encounter with a Huntington's disease patient, bringing the challenges of the situation, mistakes, and the learning that emerged. Understanding the possible sentiments and how to balance these emotions may be essential to prepare the neurologist in training for the challenges inherent in treating a patient with a rare disease.

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The gene for Huntington's disease (HD) was discovered in 1993, after an international collaborative initiative that led researchers to remote regions of South America. It was the most remarkable milestone, since George Huntington's initial description. Through the phenomenological discussions led by Jean-Martin Charcot and Willian Osler, and finally Americo Negrette's reports, which served as the inspiration for the Venezuela Project led by Nancy Wexler, the journey toward discovering the Huntington's disease (HD) gene was marked by substantial efforts. This monumental achievement involved the analysis of more than 18,000 blood samples and gathered dozens of researchers in an integrated effort, enabling the mapping of the gene on chromosome 4 in 1983 and leading, a decade later, to the precise localization and identification of the HTT gene. The discovery of the HD mutation represented a pivotal moment in the field of genetics and neurology, significantly enhancing our understanding of the disease and creating opportunities for future treatments. The progress made and the knowledge gained during this journey catalyzed the development of many innovative molecular techniques that have advanced research in other medical conditions. In this article, the authors celebrate three decades of this memorable event, revisiting the historical aspects, providing insights into the techniques developed, and delving into the paths that ultimately led to the discovery of the HD gene. © 2024 International Parkinson and Movement Disorder Society.

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O diagnóstico etiológico de quadros coréicos é amplo e algumas características da apresentação auxiliam no raciocínio diagnóstico, como o tempo de instalação do quadro (agudo/crônico), a distribuição corporal (focal/generalizada) e sintomas associados. Na infância, a principal causa da forma aguda é a coreia de Sydenham. Descrevemos o caso de uma paciente do sexo feminino de 13 anos que apresentou hemicoreia de instalação aguda relacionada a febre reumática, sendo a manifestação dimidiada atípica nesta condição.

There are numerous causes of chorea, and some characteristics of the presentation of this symptom help in the diagnosis reasoning, such as the onset time of the condition (acute/chronic), body distribution (local/generalized), and associated symptoms. In childhood, the main cause of acute chorea is Sydenham chorea. In childhood, the main cause of the acute form is Sydenham chorea. We report a case of a 13-year-old female patient who presented with acute onset hemichorea, being diagnosed with Sydenham's chorea.

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INTRODUCTION: Huntington's disease (HD) is a neurodegenerative, autosomal dominant disabling condition due to an expansion of the CAG trinucleotide in the HTT gene. Motor, psychiatric, and cognitive disorders characterize it. Chilean reports on HD in the era of molecular diagnosis were wanted. METHODS: This is a retrospective analysis of a prospective cohort of patients with HD seen at the Center for Movement Disorders (CETRAM) in Chile between 2013 and 2019. Sociodemographic, genotype, and neuropsychiatric features were investigated. RESULTS: One hundred three probands with HD were identified. The majority (63.1%) were born in the metropolitan region, followed by the VIII and V regions with 8.73% and 7.76%, respectively. When pedigrees were analyzed, ninety unrelated families encompassing 1,007 individuals were identified; among relatives, other 35 manifested HD, and 106 died of HD. Besides, five hundred seventy-nine individuals were at genetic risk. The minimum estimated prevalence of HD in Chile in 2019 was 0.72 × 100,000 inhabitants. The mean CAG repeats (CAGR) of 47.2 ± 10.74 for the expanded allele and 17.93 ± 2.05 for the normal allele. The mean age of onset was 41.39 ± 13.47 years. Juvenile cases represented 7.8% of this cohort, and 4.9% had a late onset. There was a negative correlation between the age of onset and the CAGR of the expanded allele (r =-0.84 p < 0.0001). Besides, 79.6% had a family history of HD. CONCLUSIONS: This is the first report characterizing genetics, motor, and neuropsychiatric features in patients with HD in Chile. The mean length of CAGR expansion of the abnormal allele was similar to previous reports in North America (i.e., Mexico and Canada) and higher than that reported in the neighboring country of Argentina. According to previous estimations, the minimal prevalence of HD in Chile may be lower than expected.

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Basal ganglia calcifications may be a radiological finding in approximately 20% of the general population. When they are associated with neuropsychiatric and motor symptoms in an idiopathic form, they are known as Fahr's disease. They are termed "Fahr's syndrome" when they are secondary to an identifiable and potentially treatable cause. In this report, we present the clinical case of a 69-year-old woman with the onset of subacute chorea, with no other associated symptoms, in whom extensive basal ganglia calcifications were found on neuroimaging, due to which metabolic disorders were subsequently ruled out. The objective is to contribute to the characterization of the potential motor manifestations which would give rise to clinical suspicion. Due to its low incidence and the little information on this condition in the region, we want to encourage documentation of other cases and the process for ruling out other differential diagnoses, in order to obtain more information on its actual epidemiology and signs and symptoms in Colombia. (Acta Med Colomb 2022; 48. DOI:https://doi.org/10.36104/amc.2023.2635).

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Background: Juvenile-onset Huntington's Disease (JoHD) or Huntington's disease (HD) with age of onset ≤20 years, is a rare clinical entity that often differs phenotypically from adult HD and represents only 1-15% of total HD cases. Objective: To characterize the genetic and clinical characteristics of 32 JoHD patients seen in a Peruvian Neurogenetics clinic from 2000-2018. Methods: This study is a retrospective clinical and genetic review. The clinical database in Lima, Peru was searched for HD patients seen in clinic between 2000 and 2018. Inclusion criteria were: (1) genetically confirmed disease; and (2) HD age of onset ≤20 years, according to the documented medical history. Results: Among 475 patients with genetically confirmed HD in the database, 32 patients (6.7%) had symptom onset at ≤20 years. Among JoHD patients with a known transmitting parent (30 of 32), paternal transmission accounted for 77% of cases. Anticipation was higher with paternal transmission compared to maternal transmission (27.5 ± 11.5 vs. 11.3 ± 7.1 years). Overall expanded CAG repeat length ranged from 44 to 110, with a mean length of 65.6 ± 15.4, and 14 (44%) cases had repeat length under 60. Of the 32 patients included in the study, 25 had detailed clinical symptomatology available, and many patients had unique clinical features such as prominent sleep disturbance (60% of patients), or parkinsonism (73%). Conclusions: This large case series of JoHD patients characterizes the Peruvian JoHD population, reports on unique familial relationships in JoHD, and highlights the varied symptomatic presentation of this rare disease.

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Resumen ANTECEDENTES: La corea gravídica es un padecimiento poco común, caracterizado por movimientos espontáneos irregulares, no predecibles, de duración breve, que cambian de localización sin secuencia definida, y que poseen la particularidad de ser involuntarios. En la actualidad, su incidencia se estima en 1 caso por cada 2275 embarazos. CASO CLÍNICO: Paciente de 30 años, 45 kg, talla 1.65 m, IMC 16.5, tensión arterial 110-78 mmHg, frecuencia cardiaca de 136 lpm, frecuencia respiratoria de 19 rpm, saturación de oxígeno 98%. Inició con movimientos coreicos a las 12 semanas de embarazo y titulación de anticuerpos antinucleares 1:320, anticuerpos anti-ADN de 150 UI/mL, C3 en 126 mg/dL y C4 en 31 mg/dL. Se estableció el diagnóstico de lupus eritematoso sistémico con base en los criterios de EULAR/ACR. A las 32 semanas tuvo amenaza de parto pretérmino y progresión, a pesar de la útero-inhibición, preeclampsia con criterios de severidad y manifestaciones neuropsiquiátricas con exacerbación de los movimientos coreicos. La resonancia magnética no reportó hallazgos patológicos y se descartó el síndrome de anticuerpos antifosfolipídicos secundario. Luego de la finalización del embarazo remitieron los movimientos involuntarios característicos de la corea gravídica. CONCLUSIÓN: El control prenatal en el primer trimestre es fundamental para un de-senlace favorable de las pacientes; el inicio temprano de la inmunoterapia es decisivo en los desenlaces perinatales pues disminuye la morbilidad y mortalidad asociadas. La corea es una manifestación clínica incapacitante, de ahí la importancia de identificar su causa e iniciar el tratamiento oportuno.

Abstract BACKGROUND: Chorea gravidarum is a rare condition characterised by irregular, unpredictable, spontaneous movements of short duration, changing location without defined sequence, and with the peculiarity of being involuntary. Currently, its incidence is estimated at 1 case per 2275 pregnancies. CLINICAL CASE: Patient aged 30 years, 45 kg, height 1.65 m, BMI 16.5, blood pressure 110-78 mmHg, heart rate 136 bpm, respiratory rate 19 rpm, oxygen saturation 98%. She started with choreic movements at 12 weeks of pregnancy and titration of antinuclear antibodies 1:320, anti-DNA antibodies 150 IU/mL, C3 at 126 mg/dL and C4 at 31 mg/dL. The diagnosis of systemic lupus erythematosus was established based on EULAR/ACR criteria. At 32 weeks she had threatened preterm labour and progression, despite utero-inhibition, preeclampsia with severity criteria and neuropsychiatric manifestations with exacerbation of choreic movements. MRI reported no pathological findings and secondary antiphospholipid antibody syndrome was ruled out. After termination of pregnancy the involuntary movements characteristic of chorea gravidarum subsided. CONCLUSION: Prenatal monitoring in the first trimester is essential for a favourable patient outcome; early initiation of immunotherapy is crucial for perinatal outcomes as it decreases associated morbidity and mortality. Chorea is a disabling clinical manifestation, hence the importance of identifying its cause and initiating timely treatment.

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In advanced stages of in Huntington's disease (HD) gait impairments and severe chorea are usually medication-refractory. The long-term effects on gait in HD of physiotherapy ICF-based management post- globus pallidus deep brain stimulation (GPi DBS) are not well-established. Physiotherapy has been recognized as an essential element in HD treatment. Here, we present a case report of a 56-year-old woman with HD on the advanced stage and severe chorea medication-refractory after GPi-DBS. We performed multidisciplinary motor assessments ICF-based to identify the disability at clinical and home-setting, including environmental and personal factors before and after GPi-DBS surgery and at 11-time points follow-up. The surgery was very successful and directly post GPi-DBS, there were a significant improvement in chorea and a substantial decrease in medication dose. A framework ICF- based physiotherapy protocol with external cues was developed to improve gait was delivered post-surgery and was continued three times/week during 18-months. Physiotherapy sessions consisted of a personalized protocol of exercises with functional movements, balance, and gait training with external cues. Improvements in gait were observed in 3-months post-intervention and were more expressive in 6-months follow-up. Our patient improved substantially HD motor symptoms and her quality of life after GPi-DBS intervention and a physiotherapy program ICF-based. The objective outcomes measures used to assess gait have served as endpoints to assessing the patient's motor profile during the pre-operative period. Assessments were helpful to verify the efficacy of the multidisciplinary intervention in long-term. Conclusion: Periodically assessing function and disability using outcome improvements may support clinicians' decisions about DBS, medication adjustments and guide physiotherapists to personalize the ICF-based intervention.

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Glucose transporter type 1 deficiency syndrome is a rare pediatric neurometabolic disorder. There are two phenotypes: the classical phenotype (85%) and the non-classic (15%). Both phenotypes are associated with hypoglycorrhachia. Multiple mutations are described in the SCL2A1 gene. The treatment is the ketogenic diet. We report a case of a four-year-old male patient who started with hemichorea and hemidystonia and was medicated with drugs for seizures without clinical response, that's why his parents made another pediatric consultation at his six-year-old. With the suggestive clinical findings of glucose transporter type 1 deficiency syndrome the lumbar puncture was made confirming the diagnosis. Immediately after starting the ketogenic diet the patient stopped making abnormal movements up to the moment when he is fourteen years old, eight years after.

El síndrome de deficiencia del transportador de glucosa cerebral de tipo 1 es una enfermedad neurometabólica rara en pediatría. Existe un fenotípico clásico (85 %) y otro no clásico (15 %). Ambos fenotipos se asocian con hipoglucorraquia. Se identifican múltiples mutaciones en el gen SLC2A1. El tratamiento es la terapia cetogénica. Se presenta un varón que comenzó a los cuatro años con hemicorea y hemidistonía medicado con anticonvulsivantes sin respuesta clínica, por lo que consultó nuevamente a los seis años. Con sospecha diagnóstica de síndrome de déficit de glut-1 atípico se realizó punción lumbar; el diagnóstico se confirmó por la presencia de hipoglucorraquia. Inmediatamente después de iniciar la dieta cetogénica, el paciente no presentó más movimientos anormales durante los siguientes 8 años hasta la actualidad, ya cumplidos los 14 años.

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El síndrome de deficiencia del transportador de glucosa cerebral de tipo 1 es una enfermedad neurometabólica rara en pediatría. Existe un fenotípico clásico (85 %) y otro no clásico (15 %). Ambos fenotipos se asocian con hipoglucorraquia. Se identifican múltiples mutaciones en el gen SLC2A1. El tratamiento es la terapia cetogénica. Se presenta un varón que comenzó a los cuatro años con hemicorea y hemidistonía medicado con anticonvulsivantes sin respuesta clínica, por lo que consultó nuevamente a los seis años. Con sospecha diagnóstica de síndrome de déficit de glut-1 atípico se realizó punción lumbar; el diagnóstico se confirmó por la presencia de hipoglucorraquia. Inmediatamente después de iniciar la dieta cetogénica, el paciente no presentó más movimientos anormales durante los siguientes 8 años hasta la actualidad, ya cumplidos los 14 años.

Glucose transporter type 1 deficiency syndrome is a rare pediatric neurometabolic disorder. There are two phenotypes: the classical phenotype (85%) and the non-classic (15%). Both phenotypes are associated with hypoglycorrhachia. Multiple mutations are described in the SCL2A1 gene. The treatment is the ketogenic diet. We report a case of a four-year-old male patient who started with hemichorea and hemidystonia and was medicated with drugs for seizures without clinical response, that's why his parents made another pediatric consultation at his six-year-old. With the suggestive clinical findings of glucose transporter type 1 deficiency syndrome the lumbar puncture was made confirming the diagnosis. Immediately after starting the ketogenic diet the patient stopped making abnormal movements up to the moment when he is fourteen years old, eight years after.

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"On Chorea" by George Huntington was published on April 13, 1872, in The Medical and Surgical Reporter of Philadelphia. Despite being a milestone in the recognition of the disease that later would bear his name, some myths and curiosities continue to surround the history of this publication and its author. In this History, the authors pay tribute to the 150th anniversary of the publication of this iconic article. © 2022 International Parkinson and Movement Disorder Society.

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Introdução: Quedas estão associadas com injúrias, medo de cair, diminuição da mobilidade funcional e piora na qualidade de vida. Entretanto, pouco se sabe sobre os fatores potencialmente contribuintes para ocorrência de quedas na Doença de Huntington (DH) assim como sobre as circunstâncias nas quais elas ocorrem. Objetivos: Investigar as características clínicas potencialmente associadas com o aumento do risco de quedas na DH, assim como as circunstâncias nas quais as quedas ocorrem e suas consequências. Métodos: Dados demográficos e clínicos foram obtidos através de entrevista, revisão do prontuário e exame físico. Instrumentos para avaliação de risco de quedas (TUG), sintomas motores (UHDRS, UPDRS), distúrbios da marcha (10MWT, FOG), distúrbios cognitivos (MEEM, FAB, FDT, Hayling,Ekman), alterações comportamentais (Irritability Scale, BIS-11, BDI-II, NPI-Q) e distúrbios do equilíbrio (BBS) foram aplicado em todos pacientes. Resultados: Foram obtidos dados de 40 pacientes e 24 (60%) apresentaram ≥ 2 quedas nos últimos 6 meses e foram considerados "caidores recorrentes". Idade, idade de início da doença e duração da doença (DCL) não diferiram entre os grupos. Em contrapartida, a dose de neurolépticos medida em equivalentes de Olanzapina (OE) foi maior no grupo dos "caidores recorrentes." Os pacientes "caidores recorrentes" também apresentaram pior performance no desempenho da UHDRS-TMS, UPDRS, BBS e mais coreia do que os "não-caidores". Houve também diferença estatística na comparação dos tempos de escolha e alternância do FDT indicando pior desempenho cognitivo do grupo dos "caidores recorrentes" no teste. "Caidores- recorrentes" também apresentaram mais comportamento motor aberrante do que os "não- caidores". Não houve diferença na comparação dos parâmetros espaço-temporais da marcha estudados, assim como no desempenho do TUG. Ambos os grupos apresentaram altos índices de medo de queda. Somente o modelo contento o BBS alcançou significância estatística na regressão logística. Cerca de 80% das quedas ocorreram dentro de casa, caminhar foi o ato mais comum durante as quedas. Ainda, 40% das quedas foram classificadas como intrínsecas. Conclusão: As quedas são frequentes na DH assim como o medo de cair. Nosso estudo sugere que o risco de quedas na doença de Huntington seja multifatorial. Altas doses de neurolépticos, coreia, sintomas cognitivos e comportamentais e particularmente distúrbios do equilíbrio contribuem para ocorrência de quedas na HD.

Introduction: Falls are associated with injuries, fear of falling, decreased functional mobility and worsening in quality of life. However, little is known about the potentially contributing factors to the occurrence of falls in Huntington's Disease (HD) as well as the circumstances in which they occur. Objectives: To investigate clinical features potentially associated with an increased risk of falls in HD, as well as the circumstances in which falls occur and their consequences.Methods: Demographic and clinical data was obtained through interviews, chart review and physical examination. Instruments for fall risk assessment (TUG), motor symptoms (UHDRS, UPDRS), gait disorders (10MWT, FOG), cognitive disorders (MMSE, FAB, FDT, Hayling, Ekman), behavioral changes (Irritability Scale, BIS- 11, BDI-II, NPI-Q) and balance disorders (BBS) were applied to all patients.Results: Data from 40 patients was obtained and 24 (60%) had ≥ 2 falls in the last 6 months and were considered "recurrent fallers". Age, age of disease onset and disease duration (DCL) did not differ between groups. In contrast, the dose of neuroleptics measured in olanzapine equivalents (EO) was higher in the "recurrent fallers" group. The "recurrent fallers" also showed worse performance in the execution of the UHDRS-TMS, UPDRS, BBS and more chorea than the "non-fallers". There was also a statistical difference in the comparison of times of choice and alternation of the FDT, indicating worse cognitive performance of the "recurrent fallers" group in the test. "Recurrent fallers" also showed more aberrant motor behavior than "non-fallers". There was no difference in the comparison of the spatio-temporal gait parameters studied, nor in the TUG performance. Both groups had high rates of fear of falling. Only the model containing the BBS reached statistical significance in the logistic regression. About 80% of falls occurred indoors, walking was the most common act during falls. In addition, 40% of falls were classified as intrinsic. Conclusion: Falls are frequent in HD as well as the fear of falling. Our study suggests that the risk of falls in Huntington's disease is multifactorial. High doses of neuroleptics, chorea, cognitive and behavioral symptoms and particularly balance disorders contribute to the occurrence of falls in HD.

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Resumen ANTECEDENTES: La incidencia de la corea gravídica es de 1 caso por cada 2275 embarazos. El diagnóstico diferencial se establece con distintas enfermedades neurológicas. El tratamiento de la causa subyacente implica la curación espontánea del cuadro clínico. OBJETIVO: Reportar el caso de una paciente que inició con corea gravídica secundaria a síndrome antifosfolipídico y revisar la bibliografía al respecto. CASO CLÍNICO: Paciente de 37 años, con 28 semanas de embarazo, que consultó por alteraciones del comportamiento. Los estudios de laboratorio reportaron anticuerpos antifosfolipídicos y anti-beta 2 glicoproteína elevados en dos determinaciones separadas por 12 semanas, con ANCA y ANA negativos. En la resonancia magnética cerebral no se informaron hallazgos patológicos. Se estableció el diagnóstico de corea gravídica, secundaria a síndrome antifosfolipídico. La reacción al tratamiento con anticoagulantes y corticosteroides fue satisfactoria; en la actualidad, la paciente permanece asintomática y sin tratamiento. CONCLUSIONES: Las pruebas analíticas y de neuroimagen son útiles para establecer el origen de la corea. El tratamiento con anticoagulantes se indica para prevenir eventos trombóticos en pacientes con corea secundaria a síndrome antifosfolipídico. La eficacia de los corticosteroides en el control de los síntomas neurológicos es variable; no obstante, la paciente del caso tuvo una reacción favorable y desaparición completa de los síntomas.

Abstract BACKGROUND: Chorea gravidarum has an estimated incidence of 1:2275 pregnancies. The differential diagnosis of this entity characterized by involuntary spontaneous movements together with behavioral alterations but be made with different neurological diseases. Generally, treatment of the underlying cause involves spontaneous cure of the condition. OBJETIVES: To report the case of a patient who debuted with a chorea gravidarum secondary to antiphospholipid syndrome and to review the literature. CASE DESCRIPTION: 37-years-old patient, 28 weeks pregnant, who consulted for behavioral alterations. Laboratory test showed elevated anti phospholipid and anti-beta 2 glycoprotein antibodies in two determinations 12 weeks apart, with negative ANCA and ANA. There was no pathological finding in brain magnetic resonance. She was diagnosed with corea gravidarum secondary to antiphospholipid syndrome. She was treated effectively with anticoagulants and corticosteroids, and is currently asymptomatic and without treatment. CONCLUSIONS: Analytical and neuroimaging tests are helpful in establishing the etiology of chorea. anticoagulants are indicated to prevent thrombotic events in chorea secondary to antiphospholipid syndrome. Corticosteroids have variable efficacy in the control of neurological symptoms, although in our case complete remission of the symptoms will be overcome.

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Resumen: La estriatopatía diabética se refiere a un síndrome clínico- radiológico dado por corea-balismo y aumento de señal estriatal en la imagen, ya sea tomografía o resonancia magnética de cráneo. Si bien no existen estudios epidemiológicos, se estima una prevalencia menor a 1/100.000 hab. Clásicamente se ha documentado en mujeres añosas, descendencia asiática, con diabetes tipo 2 y estado hiperglicémico hiperosmolar no cetósico. Pero en los últimos años se ha reportado en gran variedad de pacientes diabético. Se caracteriza por ser reversible, con el tratamiento específico de la hiperglicemia. Algunos pacientes requieren de uso de otras drogas para tratamiento sintomático mientras se logra la euglicemia. Se han reportado casos de persistencia de movimientos y atrofia del caudado, cuando no se realiza un diagnóstico y tratamiento adecuados y oportunos. La recurrencia llega a ser del 4 al 20%, por lo que es importante establecer un seguimiento cercano de estos pacientes. Presentamos dos casos de estriatopatía diabética, una mujer de 72 años y un hombre de 73 años, ambos se presentaron con hemicorea aguda, pero con diferente evolución y tratamiento.

Abstract: Diabetic striatopathy refers to a clinical-radiological syndrome caused by chorea-ballismus and increased striatal signal in the image, either tomography or magnetic resonance imaging of the skull. Although there are no epidemiological studies, a prevalence of less than 1/100,000 inhabitants is estimated. It has classically been documented in elderly women, Asian descent, with type 2 diabetes and a non-ketotic hyperosmolar hyperglycemic state. But in recent years it has been reported in a wide variety of diabetic patients. It is characterized by being reversible, with specific treatment of hyperglycemia. Some patients require the use of other drugs for symptomatic treatment while euglycemia is achieved. Cases of persistence of movements and atrophy of the caudate have been reported, when an adequate and timely diagnosis and treatment are not performed. Recurrence reaches 4 to 20%, so it is important to establish a close follow-up of these patients. We present two cases of diabetic striatopathy, a 72-year-old woman and a 73-year-old man, both presented with acute hemichorea, but with different evolution and treatment.

Resumo: A estriatopatia diabética refere-se a uma síndrome clínico-radiológica causada por coreia-balismo e aumento do sinal estriatal na imagem, seja na tomografia ou na ressonância magnética do crânio. Embora não existam estudos epidemiológicos, estima-se uma prevalência inferior a 1/100.000 habitantes. Tem sido documentada classicamente em mulheres idosas, descendentes de asiáticos, com diabetes tipo 2 e estado hiperglicêmico hiperosmolar não cetótico. Mas nos últimos anos tem sido relatado em uma ampla variedade de pacientes diabéticos. Caracteriza-se por ser reversível, com tratamento específico da hiperglicemia. Alguns pacientes requerem o uso de outras drogas para tratamento sintomático enquanto a euglicemia é alcançada. Casos de persistência dos movimentos e atrofia do caudado têm sido relatados, quando um diagnóstico e tratamento adequado e oportuno não são realizados. A recorrência atinge 4 a 20%, por isso é importante estabelecer um acompanhamento próximo desses pacientes. Apresentamos dois casos de estriatopatia diabética, uma mulher de 72 anos e um homem de 73 anos, ambos com hemicoréia aguda, mas com evolução e tratamento diferentes.

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RESUMEN El síndrome antifosfolípido (SAF) es una entidad caracterizada por la presencia de anticuerpos antifosfolípidos y características clínicas como la pérdida fetal recurrente y la trombosis venosa o arterial. El diagnóstico del SAF se realiza extrapolando criterios de clasificación que incluyen criterios clínicos y de laboratorio, con manifestaciones trombóticas en su gran mayoría. Sin embargo, hay una gran variedad de manifestaciones no trombóticas de la enfermedad no incluidas en los criterios de clasificación. Dichas manifestaciones "extra-criterio" son aquellas que, debido a su frecuencia y a la relevancia que tienen para la toma de decisiones, son hallazgos de valor. Entre ellas, destacan características inflamatorias en dominios como el hematológico, de las cuales la principal es la trombocitopenia. De las diferentes manifestaciones neurológicas, debido a su frecuencia o gravedad, resaltan la migraña, la epilepsia, la demencia y otras graves como la corea y la mielitis. En la presente revisión se reseña la información disponible sobre las manifestaciones de dos dominios frecuentes y relevantes "extra-criterio" del síndrome antifosfolípido: las hematológicas y las neurológicas.

SUMMARY Antiphospholipid syndrome (APS) is an entity defined for the presence of antiphospholipid antibodies and events such as recurrent fetal loss and arterial or venous thrombosis. APS diagnosis is made through classification criteria, including laboratory criteria and clinical manifestations (most of them being thrombotic manifestations). Nonetheless, there is a wide variety of non-thrombotic manifestations of APS, which are not included in classification criteria. These "noncriteria" manifestations are important for decision making, based on their frequency or clinical relevance. Among them, some domains stand out: the hematologic domain, being thrombocytopenia the main manifestation; and the neurological domain with different manifestations such as migraine, epilepsy, dementia and severe manifestations, such as chorea and myelitis. Therefore, in the present article, information concerning two of the most common "non-criteria" domains (neurological and hematological) of APS is reviewed.

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O diabetes mellitus é uma doença endócrino-metabólica de grande prevalência mundial que pode culminar, quando descompensada, com diversas complicações, entre elas alterações neurológicas. Este relato de caso tem como objetivo descrever a presença de balismo e coreia em membros superiores bilateralmente propiciados pelo estado hiperglicêmico não cetótico em paciente com diabetes mellitus sem tratamento. Devido à agilidade em procurar por atendimento médico assim que se iniciaram os sintomas, e o correto manejo intra-hospitalar, nenhuma alteração foi visualizada em exame de imagem. No entanto, foram descartadas quaisquer outras causas que justificassem o quadro. Após o controle glicêmico adequado, houve melhora clínica progressiva e desaparecimento de movimentos involuntários.

Diabetes mellitus is an endocrine metabolic disease of great worldwide prevalence that can culminate, when decompensated, with several complications, including neurological changes. This case report aims to describe the presence of ballism and chorea in the upper limbs bilaterally caused by the non-ketotic hyperglycemic state in a patient with untreated diabetes mellitus. Due to the agility in seeking medical care as soon as the symptoms started, and the correct intra-hospital management, no changes were seen in the imaging scan. However, any other causes that justified the situation were ruled out. After adequate glycemic control, there was progressive clinical improvement and disappearance of involuntary movements.

Assuntos

RESUMO

Sydenham's chorea is an autoimmune chorea emerging after a group A beta-hemolytic streptococcal (GABHS) infection, i.e. a rheumatic chorea with or without the presence of carditis or arthritis. The disorder, defined by the presence of chorea, is also associated with cognitive and behavioral symptoms, including emotional lability, anxiety, depressive and obsessive-compulsive symptoms. The authors review the pathophysiology, clinical characteristics, and available evidence on therapeutic strategies, the latter including the secondary prevention of GABHS infections, reduction of chorea, and immune modulation. Sydenham's chorea has been regarded as a model for pediatric autoimmune neuropsychiatric disorders, however, the field is marked by conflicting results and controversies. Regarding therapeutics, there are limited high-quality interventional studies and the selection of treatment strategy often relies on the clinician's experience. A serial treatment algorithm is presented based upon the severity of clinical presentation and response to symptomatic pharmacotherapy.

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