Schistosoma mansoni myelopathy: clinical and pathologic findings.

Thirteen patients with Schistosoma mansoni myelopathy are reported. Neurologic syndromes included acute areflexic flaccid paraplegia (three), thoracic myelopathy with hyperreflexia and Babinski sign (six), and a cauda equina syndrome (four). Inflammatory granulomas and a schistosome worm in a leptomeningeal vein of the spinal cord were observed in the one patient coming to necropsy.

[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]. / Touretismo, hemibalismo y parkinsonismo juvenil: expandiendo el espectro clínico de la neurodegeneración asociada a deficiencia de pantotenato cinasa (síndrome de Hallervorden-Spatz).

INTRODUCTION: Pantothenate kinase deficiency (Hallervorden-Spatz syndrome, HSS) triggers cerebral neurodegeneration with iron deposition in the basal ganglia. The classical form has an early onset in infancy, a progressive course, the presence of extrapyramidal symptoms (dystonia, chorea, rigidity) and pigmentary retinitis. There are atypical late onset forms with predominance of symptoms of Parkinsonism and dementia, which progress slowly and course somewhat less progressively. CASE REPORT: We describe three patients with HSS and an atypical presentation, with onset during the second decade of life. In all cases magnetic resonance imaging showed areas of hyposignal in T2 sequences in medial globus pallidus, with central hypersignal, which gave rise to a tiger's eye image. Other aetiologies, such as Wilson's disease, gangliosidosis GM1, hypoprebetalipoproteinemia, hexosaminidase A deficiency, aminoacidurias and infantile Huntingdon's chorea, were precluded. In the 20-year-old male the initial manifestations at the age of 17 were superposed over Gilles de la Tourette syndrome, with complex motor and vocal tics, palilalia, behavioural disorders and postural instability. The 13-year-old patient presented symptoms of chorea, hemiballic movements and dystonia in the lower limbs, which limited walking at the age of 12. The 28-year-old female patient presented a progressive rigid akinetic syndrome, with dementia and partial response to levodopa. CONCLUSIONS: The clinical spectrum of HSS is broad and its differential diagnosis must include hemiballism, Tourette syndrome and juvenile Parkinsonism.

[Schwartz-Jampel syndrome: a description of two adult siblings]. / Síndrome de Schwartz Jampel: descripción de dos hermanos en edad adulta.

INTRODUCTION: Schwartz Jampel syndrome is a usually recessive disorder that presents myotonia, skeletal (bone dysplasia) and facial (blepharophimosis) anomalies and low height, which is diagnosed in childhood. We report on the clinical, electromyographical and radiological findings of two siblings affected by the disease and who were diagnosed late, in adulthood. CASE REPORTS: Two siblings, a male aged 39 and a female of 49, the only members of a family of five siblings born to consanguineous parents to be affected, were studied because of deformities in the joints that appeared at the age of nine months and alterations in their gait. Both had a syndromic facies with hypertelorism, micrognathia, blepharospasm, thin mouth, saddle nose and low height. The sister presented lumbar hyperlordosis, dislocation of the kneecaps, clubfeet, fists with radial deviation, bilateral dislocation of the head of the radius and limited pronosupination and flexure tension of the elbow. Deep reflexes were diminished. The male had deformities in both knees and in the right elbow, and was unable to perform pronosupination of the arm or bend the knee. A coxofemoral X ray revealed an epiphysial dysplasia. The magnetoencephalogram showed continuous muscular activity with complex repetitive discharges in the sister s orbicularis oculi and biceps. The brother had a bilateral entrapment of the ulnar nerve in the ulnar canal with a secondary axonal compromise. Magnetic resonance imaging of the encephalon of the patient showed cortical atrophy, hyperintense focal areas in the periventricular white matter and platybasia. CONCLUSIONS: In the adult, myotonic chondrodystrophia evolves with decreased blepharospasm, the presence of structured deformities and entrapments of peripheral nerves.

Síndrome de Schwartz-Jampel:descripción de dos hermanos en edad adulta / Schwartz-jampel syndrome: a description of two adult siblings

Introducción. El síndrome de Schwartz-Jampel es un trastorno habitualmente recesivo que cursa con miotonía, anomalías esqueléticas (displasia ósea) y faciales (blefarofimosis) y talla baja, de diagnóstico en la infancia. Aportamos los hallazgos clínicos, electromiográficos y radiológicos de dos hermanos afectados, con un diagnóstico tardío en la edad adulta. Casos clínicos. Dos hermanos, un varón de 39 años y una mujer de 49 años, únicos afectados de una familia de cinco hermanos fruto de padres consanguíneos, se estudiaron por presentar deformidades articulares desde los nueve meses de edad y una alteración de la marcha. Ambos tenían una facies sindrómica con hipertelorismo, micrognatia, blefaroespasmo, boca afilada, nariz en silla y talla baja. La hermana presentaba hiperlordosis lumbar, luxación de rótulas, pies equinos, puños con desvío radial, luxación de cabeza de radio bilateral y limitación para la pronosupinación y flexoextensión del codo. Los reflejos profundos estaban disminuidos. El varón tenía deformidades en ambas rodillas y en el codo derecho, y era incapaz de pronosupinar el brazo y de flexionar la rodilla. Una radiografía coxofemoral mostró una displasia epifisaria. El magnetoencefalograma evidenció una actividad muscular continua con descargas repetitivas complejas en orbicularis oculi y bíceps en la hermana. El hermano tenía un atrapamiento del nervio cubital bilateral en el canal cubital con un compromiso axonal secundario. La resonancia magnética del encéfalo de la paciente mostró atrofia cortical, áreas hiperintensas focales en la sustancia blanca periventricular y platibasia. Conclusiones. La condrodistrofia miotónica evoluciona en el adulto con una disminución del blefaroespasmo, con presencia de deformidades estructuradas y atrapamientos de nervios periféricos (AU)