Neurological evaluation of patients with Gaucher disease diagnosed as type 1.

Type 1 Gaucher disease (GD1) is characterised by lack of central nervous system involvement; however, there are several reports of associated neurological manifestations. The aim of this study was to systematically evaluate neurological manifestations in 31 patients with GD1 (12 males and 19 females; mean age 39.4 (range 5-77) years). Participants underwent a complete neurological examination and cognitive tests. Investigation of symptoms and medication intake, and motor and sensory electroneurograms were obtained. 30.7% of adult patients had neurological deficits, including psychomotor delay, parkinsonism, dementia, impaired saccadic ocular movements and peripheral nerve dysfunction. Three patients were redefined as type 3 GD. Electrodiagnosis was performed on 15 patients; 26.7% had reduced amplitude and/or abnormal waveforms in at least three nerves, 33.3% had a mild reduction in amplitude of two nerves and 40% had amplitude reduction in one nerve. Patients with three or more affected nerves had additional neurological symptoms. Our results demonstrate that neurological alterations occur in patients diagnosed with GD1, and subclinical peripheral neuropathy is a frequent finding.

Deep brain stimulation for patients with Parkinson's disease: Effect on caregiver burden. / Influencia de la estimulación cerebral profunda en la carga de cuidadores de pacientes con enfermedad de Parkinson.

INTRODUCTION: Our aim is to assess the burden on caregivers of patients with Parkinson's disease treated with deep brain stimulation (DBS) compared to those caring for patients at advanced stages and undergoing other treatments. We have also assessed the variables associated with presence of caregiver overload. MATERIAL AND METHODS: We included consecutive patients with Parkinson's disease treated with DBS. Our control group included patients in advanced stages of Parkinson's disease undergoing other treatments. Patients were assessed with the following scales: UPDRS-II, UPDRS-III, UPDRS-IV, Hoehn and Yahr, Schwab & England, Barthel, PDQ-39, MoCA, Apathy Evaluation Scale, HADS, and the abbreviated QUIP. Caregiver burden was evaluated with the Zarit caregiver burden interview and their moods were assessed with the HADS scale. RESULTS: We included 11 patients treated with DBS and 11 with other treatments. For patients treated with DBS, we observed a better quality of life according to the PDQ-39 questionnaire (P=.028), and a lower score on the HADS anxiety subscale (P=.010). Caregiver overload was observed in 54.5% of the caregivers of patients in both groups (P=1.000); Zarit scores were similar (P=.835). Caregiver overload was associated with higher scores on the caregiver's Apathy Evaluation Scale (P=.048) and on the HADS anxiety subscale (P=.006). CONCLUSION: According to our results, treatment with DBS is not associated with lower caregiver burden. Apathy in patients and anxiety in caregivers are factors associated with the appearance of overload.

[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years]. / Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años.

INTRODUCTION: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. PATIENTS AND METHODS: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. RESULTS: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. CONCLUSIONS: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.

[Landau kleffner syndrome]. / Síndrome de Landau Kleffner.

INTRODUCTION: The Landau Kleffner syndrome (SLK) is associated with paroxystic alterations of the electroencephalogram which are intensified during sleep, with acquired aphasia and epilepsy, in 75 83% of the cases. The syndrome is associated with other features, such as personality disorders presenting as autistic behaviour, cognitive regression and in some cases, motor dysfunction. The epileptic activity appears to be responsible for the disorder. Treatment with anti epileptic drugs is ineffective in many cases, although there may be periods of spontaneous improvement, or there may be permanent sequelas of language. Design. A systematic revision of one case. CASE REPORT: A five year old boy with no previous clinical history had, at the age of four years, presented with behaviour changes and aphasia, accompanied by paroxystic changes on the EEG and nocturnal polysomnogram. On cranial CT there was a mid line cyst. He had had no seizures. Treatment. Treatment with carbamazepine led to clinical improvement in behaviour, reduction in the paroxysms and appearance of sleep spindles, but little effect on the degree of aphasia. CONCLUSIONS: The case described is a variant of SLK, with no epileptic seizures, some improvement on carbamazepine and a mid line cyst.

[Age as source of variation in various parameters of 'delta sleep']. / La edad como fuente de variación en algunos parámetros del 'sueño delta'.

INTRODUCTION: The clinic usefulness of a diagnostic test is in relationship to the precision with which measures the studied phenomenon. The lack of precision involve the reliability upon causing confounded results of the normal and diseased populations. OBJECTIVE: Since the sleep varies in function of the age, to find sleep parameters that fit better to the changes that the aging produces in the sleep. MATERIAL AND METHODS: Spectral analysis through the Fast Fourier Transformation of the ambulatory EEG of 28 healthy subjects. RESULTS: Maximum value of power (maximum depth) in a frequency of ended in a point of the sleep goes losing in a way specifies and systematical with the age. CONCLUSIONS: The variance accounted by this parameter is of the 87%, what, being tried to a phenomenon so variable as the sleep, supposes a interesting starting point to be applied to some pathologies in those which is presumed that the slow sleep (to which is attributed a paper in the cerebral restoration) is decreased.

Influencia de la estimulación cerebral profunda en la carga de cuidadores de pacientes con enfermedad de Parkinson / Deep brain stimulation for patients with Parkinson's disease: Effect on caregiver burden

INTRODUCCIÓN: Nuestro objetivo es determinar el grado de carga de cuidadores de pacientes con enfermedad de Parkinson en tratamiento con estimulación cerebral profunda (ECP) con respecto a aquellos en estadios avanzados con otros tratamientos y las variables asociadas a la presencia de sobrecarga. MATERIAL Y MÉTODOS: Se incluyeron de forma consecutiva pacientes con enfermedad de Parkinson en tratamiento con ECP, utilizando como grupo control a otros con enfermedad de Parkinson en estadio avanzado sin ECP. Los pacientes fueron sometidos a una valoración mediante las escalas UPDRS-II, UPDRS-III, UPDRS-IV, Hoehn y Yahr, Schawb & England, Barthel, PDQ-39, MoCA, Apathy Scale, HADS y la QUIP abreviada. A los cuidadores se les estudió mediante el inventario de sobrecarga de Zarit y de valoración afectiva HADS. RESULTADOS: Se incluyeron 11 pacientes en tratamiento con ECP y 11 con otros tratamientos. En aquellos con ECP se observó una mejor calidad de vida según la escala PDQ-39 (p = 0,028), y una menor puntuación en la subescala HADS para la ansiedad (p = 0,010). Se observó sobrecarga en un 54,5% de los cuidadores de pacientes de ambos grupos (p = 1,000), con una puntuación similar en la escala Zarit (p = 0,835). La presencia de sobrecarga se asoció a una mayor puntuación en la escala de apatía (p = 0,048) y en la subescala HADS de ansiedad en el cuidador (p = 0,006). CONCLUSIÓN: Según los resultados de nuestro estudio el tratamiento con ECP no se relaciona con una menor carga del cuidador, siendo la apatía del paciente y la ansiedad del cuidador factores asociados a su desarrollo

INTRODUCTION: Our aim is to assess the burden on caregivers of patients with Parkinson's disease treated with deep brain stimulation (DBS) compared to those caring for patients at advanced stages and undergoing other treatments. We have also assessed the variables associated with presence of caregiver overload. MATERIAL AND METHODS: We included consecutive patients with Parkinson's disease treated with DBS. Our control group included patients in advanced stages of Parkinson's disease undergoing other treatments. Patients were assessed with the following scales: UPDRS-II, UPDRS-III, UPDRS-IV, Hoehn and Yahr, Schwab & England, Barthel, PDQ-39, MoCA, Apathy Evaluation Scale, HADS, and the abbreviated QUIP. Caregiver burden was evaluated with the Zarit caregiver burden interview and their moods were assessed with the HADS scale. RESULTS: We included 11 patients treated with DBS and 11 with other treatments. For patients treated with DBS, we observed a better quality of life according to the PDQ-39 questionnaire (P = .028), and a lower score on the HADS anxiety subscale (P = .010). Caregiver overload was observed in 54.5% of the caregivers of patients in both groups (P = 1.000); Zarit scores were similar (P = .835). Caregiver overload was associated with higher scores on the caregiver's Apathy Evaluation Scale (P = .048) and on the HADS anxiety subscale (P = .006). CONCLUSION: According to our results, treatment with DBS is not associated with lower caregiver burden. Apathy in patients and anxiety in caregivers are factors associated with the appearance of overload

Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años / Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years

Introducción. Las enfermedades neuromusculares hereditarias son trastornos heterogéneos en edad de inicio, clínica y gravedad. Muchas son graves, discapacitantes y con gran impacto personal, familiar y social, y pueden limitar el pronóstico vital. Se producen continuos avances diagnósticos que exigen una permanente actualización. Pacientes y métodos. Revisión de las enfermedades neuromusculares hereditarias de la base de datos de Neuropediatría del Hospital Miguel Servet de Zaragoza de mayo de 1990 a octubre de 2004. Resultados. De 7.805 pacientes de la base de datos figuran 123 casos (el 1,5% del total) con enfermedades neuromusculares hereditarias: 71 varones y 52 niñas. Son: 35 neuropatías hereditarias sensitivomotoras, 17 distrofinopatías, 10 distrofias miotónicas, 10 atrofias musculares espinales, cuatro distrofias congénitas deficientes en merosina, otras cuatro distrofias musculares, tres miopatías mitocondriales, tres miastenias, dos neuropatías familiares con insensibilidad al dolor, dos ataxias de Friedreich, una neuropatía familiar con parálisis sensibles a la presión, un síndrome de Walker-Warburg, cinco polineuropatías asociadas a leucodistrofia y otros 25 casos sin tipificar. Los estudios genéticos han sido diagnósticos en 36 casos (29,2%): nueve distrofias miotónicas, ocho distrofinopatías, ocho atrofias musculares espinales, cuatro neuropatías hereditarias sensitivomotoras desmielinizantes, dos ataxias de Friedreich, dos distrofias musculares de cintura, una miastenia congénita, una enfermedad de McArdle y un síndrome de Kearns-Sayre. Conclusiones. La genética establece diagnósticos que previamente sólo pueden ser de presunción, y permite evitar biopsias musculares, lo que es satisfactorio especialmente en niños. Es necesaria la actualización en los estudios inmunohistoquímicos y guardar sistemáticamente muestras biológicas en los casos sin diagnóstico (AU)

Introduction. Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. Patients and methods. We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. Results. Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich’s ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich’s ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle’s disease and one case of Kearns-Sayre syndrome. Conclusions. Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached (AU)

Síndrome de Landau-Kleffner / Landau-kleffner syndrome

Introducción. El síndrome de Landau-Kleffner (SLK) es la asociación de alteraciones paroxísticas electroencefalográficas que se intensifican durante el sueño, con afasia adquirida y epilepsia, en el 75-83 por ciento de los casos. Unidos al síndrome encontramos otros rasgos, como trastornos de la personalidad que se presentan como comportamiento autista, regresión cognitiva y, en algunos casos, disfunción motora. La actividad epiléptica parece ser la responsable del trastorno. El tratamiento con fármacos antiepilépticos no es eficaz en muchos casos, aunque puede haber períodos de mejoría espontánea, o quedar secuelas permanentes en el lenguaje. Diseño. Revisión sistemática con caso único. Caso clínico. Varón, de 5 años de edad, sin antecedentes personales, que a los 4 años inicia un cuadro de alteraciones del comportamiento y afasia, acompañado de alteraciones paroxísticas en el EEG y en el polisomnograma nocturno, y muestra en la TAC craneal un quiste en la línea media. Nunca presentó crisis convulsivas. Tratamiento. El tratamiento con carbamacepina ha producido mejoría clínica en el comportamiento, disminución de los paroxismos y aparición de husos de sueño, con poca repercusión sobre la afasia. Conclusiones. El caso descrito es una variante del SLK , sin crisis epilépticas, con cierta mejoría a la carbamacepina y quiste de línea media (AU)