Congenital muscular dystrophy: a clinical report on 17 patients

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hipodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.Descrevemos 17 pacientes (12m, 5f) com idades que variaram de 1 a 24 anos (mediana 6 anos) com distrofia muscular congênita (DMC), que foram estudados do ponto de vista genético, clínico, laboratorial, eletrofisiológico e anátomo-patológico. A apresentação segundo a herança foi da forma esporádica (76,5%) ou possivelmente autossômica recessiva (23,5%). A diminuição da movimentação fetal intra-uterina foi referida em 57% dos casos, hipotonia neonatal em 82% e retardo no desenvolvimento motor em 88,2%. Fraqueza muscular, diminuição dos reflexos profundos e contraturas articulares estavam presentes em todos os casos. A piora na função motora estava muito relacionada ao aumento ou aparecimento de novas retrações articulares. A CK nunca ultrapassou valores acima de 8 vezes o normal. O ENMG foi de padrão miopático em 73,3%, neuropático em 13,3% e normal em 13,3% dos casos. Aspectos tomográficos com hipodensidade da substância branca subcortical foram vistos em 8 casos. Ao tratamento impôs-se fisioterapia adequada e cirurgia corretiva das deformidades articulares. Novas contraturas desenvolveram-se mais tarde e estavam relacionadas freqüentemente a fisioterapia insuficiente.Escola Paulista de MedicinaUNIFESP, EPMSciEL

Low signal intensity of motor cortex in SWI sequence: a radiological marker for motor neuron disease?

Hosp Beneficencia Portuguesa São Paulo, BR-01323000 São Paulo, SP, BrazilUniversidade Federal de São Paulo, Dept Neurol, São Paulo, SP, BrazilUniversidade Federal de São Paulo, Dept Neurol, São Paulo, SP, BrazilWeb of Scienc

PET-CT imaging in a patient with progressive supranuclear palsy

Hosp Beneficencia Portuguesa São Paulo, Med Imagem, BR-01323001 São Paulo, SP, BrazilUniversidade Federal de São Paulo, Dept Neurol, São Paulo, SP, BrazilHosp Coracao, São Paulo, SP, BrazilUniversidade Federal de São Paulo, Dept Neurol, São Paulo, SP, BrazilWeb of Scienc

Cervical spondylotic myelopathy: what the neurologist should know

Cervical spondylotic myelopathy is a wellknown cause of disability among older people. A significant amount of these patients is asymptomatic. Once the symptoms start the worsening may follow a progressive manner. We should suspect of spondylotic myelopathy in any individual over 55 years presenting progressive changes in gait or losing fine motor control of the upper limbs. Despite its frequent prevalence, this condition is still neglected and many times confused with other supratentorial lesions regarding diagnostic. Here we address some of most important aspects of this disease, calling attention to pathophysiology, the natural history. presentation, differential diagnosis, clinical assessment and treatment.Natl Inst Traumatol & Orthoped, Rio de Janeiro, BrazilUniv Severino Sombra, Div Neurol, Grad Program Neurol Neurosci, Tavares Macedo St 95-902, BR-24220215 Vassouras, RJ, BrazilUniv Severino Sombra, Masters Program Urgencia & Emergencia Med, Vassouras, RJ, BrazilUniv Fed Estado Rio de Janeiro, Sch Med, Rio de Janeiro, RJ, BrazilNeurology Division, Universidade Federal de São Paulo - UNIFESP , São Paulo, SP. BrazilUniv Fed Fluminense, Div Neurosurg, Niteroi, RJ, BrazilNeurology Division, Universidade Federal de São Paulo - UNIFESP , São Paulo, SP. BrazilWeb of Scienc