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1.
Artículo | IMSEAR | ID: sea-225941

RESUMEN

Hoffman's syndrome is a rare form of hypothyroid myopathy, which causes proximal muscle weakness and pseudohypertrophy of muscles.Itis a complication of untreated or uncontrolled Hypothyroidism.The neurological manifestations of hypothyroidism usually occur late in the course of disease. It is quite rare to present with neurological manifestations in the earlier stage of disease. Very few cases of Hoffman抯 syndrome were reported from India. Here we report a case of 27-year-old male who presented to the medicine OPD with initial symptoms of proximal muscle weakness, fatigue and calf muscle hypertrophy. On further evaluation patient was found to have hypothyroid myopathy in the form of Hoffman抯 syndrome.

2.
Clinics ; 66(10): 1713-1719, 2011. ilus, graf, tab
Artículo en Inglés | LILACS | ID: lil-601904

RESUMEN

INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause secondary deficiencies in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology - HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of São Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The patients were divided into the following groups based on the immunohistochemical findings: a-sarcoglycanopathies (16 patients), b-sarcoglycanopathies (1 patient), y-sarcoglycanopathies (5 patients), and nonsarcoglycanopathies (23 patients). The muscle strength analysis revealed significant differences for both upper and lower limb muscles, particularly the shoulder and hip muscles, as expected. No pattern of joint contractures was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in patients with a-sarcoglycanopathies, while calf pseudo-hypertrophy was most common in patients with non-sarcoglycanopathies. The a-sarcoglycanopathy patients presented with more severe muscle weakness than did y-sarcoglycanopathy patients. CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.


Asunto(s)
Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Deformidades Congénitas de las Extremidades/patología , Sarcoglicanopatías/patología , Factores de Edad , Análisis de Varianza , Biopsia , Estudios de Cohortes , Inmunohistoquímica , Deformidades Congénitas de las Extremidades/metabolismo , Debilidad Muscular/fisiopatología , Distrofia Muscular de Cinturas/metabolismo , Distrofia Muscular de Cinturas/patología , Fenotipo , Coloración y Etiquetado , Estadísticas no Paramétricas , Sarcoglicanopatías/clasificación , Sarcoglicanopatías/metabolismo
3.
Rev. chil. obstet. ginecol ; 75(3): 199-203, 2010. ilus
Artículo en Español | LILACS | ID: lil-577415

RESUMEN

Presentamos un caso de quiste de inclusión epidérmico, como complicación tardía, en una mujer africana con antecedente de mutilación genital tipo II o clitoridectomía total, durante su infancia.


We report a case of epidermal inclusion cyst as a late complication in an African woman with history of ritual genital mutilation type II or total excision during childhood.


Asunto(s)
Humanos , Femenino , Adulto , Circuncisión Femenina/efectos adversos , Quiste Epidérmico/cirugía , Quiste Epidérmico/etiología , Vulva , Clítoris , Circuncisión Femenina/etnología , Eritrea/etnología
4.
Artículo en Inglés | IMSEAR | ID: sea-127136

RESUMEN

We report a case of 12 year old male child with Kocher-Debré-Semelaigne syndrome (KDSS) which is a rare clinical presentation of hypothyroidism associated with muscular pseudo-hypertrophy. The main differential diagnosis is Duchenne Muscular Dystrophy. Pseudomuscular hypertrophy of KDSS is an acquired type of myopathy associated with severe and long standing hypothyroidism and is reversible with thyroxine supplement.


Asunto(s)
Hipotiroidismo , Hipertrofia
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