Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies / Erro e atraso diagnóstico nas neuronopatias sensitivas não paraneoplásicas

ABSTRACT Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN. Therefore, our objectives were to characterize the diagnostic odyssey for non-paraneoplastic SN patients, as well as to identify possible associated factors. Methods We consecutively enrolled 48 non-paraneoplastic SN patients followed in a tertiary neuromuscular clinic at the University of Campinas (Brazil). All patients were instructed to retrieve their previous medical records, and we collected the data regarding demographics, disease onset, previous incorrect diagnoses made and the recommended treatments. Results There were 34 women, with a mean age at the diagnosis of 45.9 ± 12.2 years, and 28/48 (58%) of the patients were idiopathic. Negative sensory symptoms were the heralding symptoms in 25/48 (52%); these were asymmetric in 36/48 (75%) and followed a chronic course in 35/48 (73%). On average, it took 5.4 ± 5.3 years for SN to be diagnosed; patients had an average of 3.4 ± 1.5 incorrect diagnoses. A disease onset before the age of 40 was associated to shorter diagnosis delay (3.7 ± 3.4 vs. 7.8 ± 6.7 years, p = 0.01). Conclusions These results suggest that diagnostic delay and misdiagnosis are frequent in non-paraneoplastic SN patients. As in other rare conditions, increased awareness in all the healthcare system levels is paramount to ensure accurate diagnosis and to improve care of these patients.

RESUMO As neuronopatias sensitivas (NS) representam um grupo de doenças caracterizadas por ataxia sensitiva e déficits sensitivos multifocais e não-comprimento dependentes. O seu reconhecimento é fundamental para o tratamento apropriado e para a investigação de doenças associadas. O quadro clínico pouco frequente aliado à baixa prevalência, especialmente das formas não-paraneoplásicas (NSnp), colaboram para o atraso e erro no diagnóstico. Os objetivos desse trabalho são descrever a odisseia diagnóstica dos pacientes com NSnp e tentar identificar possíveis fatores associados. Métodos Foram incluídos consecutivamente 48 pacientes com NSnp acompanhados no ambulatório de doenças neuromusculares da Universidade Estadual de Campinas (Brasil). Dados demográficos e sobre o início da NS (incluindo diagnósticos que lhes foram dados e tratamentos prescritos) foram coletados. Resultados Na coorte descrita havia 34 mulheres e a idade ao diagnóstico era de 45,9 ± 12,2 anos. Os sintomas inaugurais eram sensitivos deficitários em 25/48 (52%) dos pacientes, sendo assimétricos em 36/48 (75%) e de evolução crônica em 35/48 (73%). Para 28/48 (58%) dos pacientes a NS era idiopática. Em média, os pacientes com NSnp tiveram um atraso diagnóstico de 5,4 ± 5,3 anos com uma média de 3,4 ± 1,5 diagnósticos incorretos. Pacientes com início antes dos 40 anos tiveram diagnóstico mais precoce que aqueles com início tardio (3,7 ± 3,4 vs. 7,8 ± 6,7 anos, p = 0,01). Conclusão Os dados ora apresentados sugerem que o erro e o atraso diagnóstico são frequentes e impactam os pacientes com NS. A importância do diagnóstico das NS deve ser constante em todos os níveis do sistema de saúde para o diagnóstico correto e a consequente melhora no cuidado a esses pacientes.

Cerebellar ataxia as presenting feature of hypothyroidism

SUMMARY Symptoms and signs of the hypothyroidism vary in relation to the magnitude and acuteness of the thyroid hormone deficiency. The usual clinical features are constipation, fatigue, cold intolerance and weight gain. Rarely it can present with neurologic problems like reversible cerebellar ataxia, dementia, peripheral neuropathy, psychosis and coma. Hypothyroidism should be suspected in all cases of ataxia, as it is easily treatable. A 40 year-old male presented with the history facial puffiness, hoarseness of voice and gait-ataxia. Investigations revealed frank primary hypothyroidism. Anti-TPO antibody was positive. Thyroxine was started and patient improved completely within eight weeks. Hypothyroidism can present with ataxia as presenting feature. Hypothyroidism should be considered in all cases of cerebellar ataxia as it is a reversible cause of ataxia.

Malformación de Dandy-Walker de diagnóstico tardío revelada por hipertensión intracraneal / Late diagnosis of Dandy-Walker’s malformation revealed by intracranial hypertension

La malformación de Dandy-Walker se ha descrito clásicamente por la triada de dilatación quística del cuarto ventrículo, hipoplasia del vermis cerebeloso e hidrocefalia. Los síntomas suelen aparecer en la infancia precoz. La presentación en la edad adulta es extremadamente rara, aunque puede ocurrir de forma espontánea o tras un traumatismo craneal. Caso clínico. Varón de 24 años que acude a urgencias por un cuadro compatible con hipertensión intracraneal. El TAC craneal reveló una malformación de Dandy-Walker. Comentario y Conclusiones. Aproximadamente el 80% de los pacientes con esta malformación se presentan durante le primer año de vida, principalmente con marcrocrania secundaria a la hidrocefalia. Por el contrario, en la edad adulta suelen presentarse con síntomas de disfunción de estructuras posteriores dando lugar a nistagmus, alteración de la marcha y ataxia, aunque también podrían presentar síntomas de hipertensión intracraneal...

Assessing a Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) with 7T MR Imaging

Lhermitte-Duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare hamartomatous lesion of the cerebellar cortex and this was first described in 1920. LDD is considered to be part of the autosomal-dominant phacomatosis and cancer syndrome Cowden disease (CS). We examined the brain of a 46-year-old man, who displayed the manifestations of CS, with 7 Tesla (T) and 1.5T MRI and 1.5T MR spectroscopy (1H-MRS). We discuss the possible benefits of employing ultrahigh-field MRI for making the diagnosis of this rare lesion.

Knee joint dysfunctions that influence gait in cerebrovascular injury

INTRODUCTION: There is still no consensus among different specialists on the subject of kinematic variation during the hemiparetic gait, including the main changes that take place during the gait cycle and whether the gait velocity changes the patterns of joint mobility. One of the most frequently discussed joints is the knee. OBJECTIVES: This study aims to evaluate the variables found in the angular kinematics of knee joint, and to describe the alterations found in the hemiparetic gait resulting from cerebrovascular injury. METHODS: This study included 66 adult patients of both genders with a diagnosis of either right or left hemiparesis resulting from ischemic cerebrovascular injury. All the participants underwent three-dimensional gait evaluation, an the angular kinematics of the joint knee were selected for analysis. RESULTS: The results were distributed into four groups formed based on the median of the gait speed and the side of hemiparesis. CONCLUSIONS: The relevant clinical characteristics included the important mechanisms of loading response in the stance, knee hyperextension in single stance, and reduction of the peak flexion and movement amplitude of the knee in the swing phase. These mechanisms should be taken into account when choosing the best treatment. We believe that the findings presented here may aid in preventing the occurrence of the problems found, and also in identifying the origin of these problems.

Infarto cerebelar e vertigem aguda / Cerebellar infarction and acute vertigo

São apresentados dois pacientes do sexo masculino com quadro de vertigem aguda e ataxia da marcha. Em ambos os casos o infarto cerebelar foi a etiologia comprovada pelos exames de neuroimagem. Estes pacientes evoluíram para a recuperação completa dos sintomas vestibulares, em um dos casos o paciente permaneceu com disacusia sensório-neural à esquerda. Acreditamos que pacientes com clínica semelhante devam ser submetidos de rotina a exames radiográficos como a tomografia computadorizada e/ou ressonância nuclear magnética.