[Myopathy with trabecular fibers associated with familiar autoimmune polyglandular syndrome type 1]. / Miopatía con fibras trabeculares asociada a síndrome poliglandular autoinmune tipo 1 familiar.

An association between limb-girdle muscular dystrophy and autoimmune polyglandular syndrome type 1 (APS1), in three sisters born to consanguineous parents, is presented. The components of APS1 in these patients were hypoparathyroidism, autoimmune adrenal insufficiency, primary hypogonadism and mucocutaneous candidiasis. A muscle biopsy performed on the first patient showed over 40 % of trabeculated fibers, suggesting the diagnosis of myopathy with trabeculated fibers (MTF). Intracranial calcification was found in the second patient; and epilepsy, and several other minor components of APS1, in the third; cataracts were found in the last two patients. The clinical manifestations and inheritance of MTF and APS1 are reviewed. While recessive mutations in the AIRE gene (21q22.3) cause APS1, genetic transmission of hereditary MTF has not been investigated in depth. Mutations in CRYAA, a gene that shares the same locus as AIRE, may cause recessive inheritance of cataracts. Thus, the proposal of this article is that linkage of contiguous genes that includes the AIRE gene, might be responsible for the association of both diseases in these three patients. Additional involvement of CRYAA, that possibly causes cataracts in two of the patients, might support this hypothesis, due to the proximity of this gene to AIRE. The genes COL6A1 and COL6A2, localized in 21q22.3, are discarded as transmitters of MTF in these cases, on clinical criteria. The authors wish to draw attention to the association between limb-girdle muscular dystrophy and APS1, since it has been very rarely reported in the medical literature.

Miopatía con fibras trabeculares asociada a síndrome poliglandular autoinmune tipo 1 familiar / Myopathy with trabecular fibers associated with familiar autoinmune polyglandular syndrome type 1

En este trabajo se presenta la asociación de distrofia muscular de cinturas con síndrome poliglandular autoinmune tipo 1 (SPA 1) en tres hermanas, hijas de padres consanguíneos. En las tres pacientes, el SPA 1 estuvo constituido por hipoparatiroidismo, insuficiencia suprarrenal, hipogonadismo primario y candidiasis mucocutánea. La biopsia muscular en una paciente reveló el 40 % de fibras trabeculares, sugiriendo el diagnóstico de miopatía con fibras trabeculares (MFT). Otras manifestaciones fueron calcificaciones intracraneales en la segunda paciente, epilepsia y múltiples componentes adicionales de SPA 1 en la tercera, y cataratas en estas dos. En este estudio se revisan las características clínicas y los mecanismos hereditarios del SPA 1 y la MFT. Mientras que el SPA 1 se transmite con herencia autosómico recesiva por mutaciones en el gen AIRE, localizado en 21q22.3, no se conoce la transmisión genética de la MFT hereditaria. Mutaciones en el gen CRYAA, ubicado en el mismo locus que AIRE, pueden transmitir cataratas con herencia recesiva. Se propone en consecuencia que la asociación de MFT con el SPA 1 en estas tres pacientes fuera transmitida por ligamiento de genes contiguos, que debería incluir el gen AIRE. La participación adicional del gen CRYAA en dos casos apoyaría esta hipótesis por su proximidad con el gen AIRE. Se descarta que estos casos de distrofia muscular estén transmitidos por los genes COL6A 1 y COL6A2, causantes de miopatía y situados en 21 q22.3, en base a criterios clínicos. Se pretende, en suma, destacar la asociación entre SPA 1 y distrofia muscular de cinturas por haber sido muy raramente mencionada en la literatura neurológica

An association between limb-girdle muscular dystrophy and autoimmune polyglandular syndrome type 1 (APS 1), in three sisters born to consanguineous parents, is presented. The components of APS 1 in these patients were hypoparathyroidism, autoimmune adrenal insufficiency, primary hypogonadism and mucocutaneous candidiasis. A muscle biopsy performed on the first patient showed over 40 % of trabeculated fibers, suggesting the diagnosis of myopathy with trabeculated fibers (MTF). Intracranial calcification was found in the second patient; and epilepsy, and several other minar components of APS1, in the third; cataracts were found in the last two patients. The clinical manifestations and inheritance of MTF and APS 1 are reviewed. While recessive mutations in the AIRE gene (21q22.3) cause APS 1, genetic transmission of hereditary MTF has not been investigated in depth. Mutations in CRY AA, a gene that shares the same locus as AIRE, may cause recessive inheritance of cataracts. Thus, the proposal of this article is that linkage of contiguous genes that includes the AIRE gene, might be responsible far the association of both diseases in these three patients. Additional involvement of CRYAA, that possibly causes cataracts in two of the patients, might support this hypothesis, due to the proximity of this gene to AIRE. The genes COL6A1 and COL6A2, localized in 21q22.3, are discarded as transmitters of MTF in these cases, on clinical criteria. The authors wish to draw attention to the association between limb-girdle muscular dystrophy and APS1, since it has been very rarely reported in the medical literature

Paraparesia, hiperprolactinemia e íleo en el síndrome de Guillain-Barré / Paraparesis, hyperprolactinemia and adynamic ileus in Guillain-Barré syndrome

Se presenta un caso de síndrome de Guillain-Barré (SGB) con manifestaciones clínicas poco frecuentes, que fueron el inicio con alteraciones vegetativas, como estreñimiento y elevación de tensión arterial, seguidas de íleo y déficit motor con arreflexia limitada a las extremidades inferiores. Se demostraron secreción inadecuada de hormona antidiurética e hiperprolactinemia, que se resolvieron en el curso de la enfermedad. El íleo y la paraparesia mejoraron con la aspiración gástrica y con la administración de inmunoglobulinas por vía intravenosa (IVIg), experimentando una recaída 80 días después, constituida por empeoramiento de la paraparesia, dolor de las extremidades, elevación de la tensión arterial y respuesta hipotensora anómala al fármaco captopril. Se produjo recuperación del cuadro clínico con una nueva administración de IVIg. En este trabajo se revisan los aspectos menos habituales de este caso de SGB, como son el íleo, la paraparesia y las alteraciones hormonales, comparándolos con los datos hallados en la literatura neurológica. Se comenta el diagnóstico diferencial con problemas medulares, neuropatías metabólicas, paraneoplásicas y el síndrome POEMS, y se plantea que la hiperprolactinemia podría apuntar tanto a la denervación adenohipofisaria como a la respuesta autoinmunitaria en el curso de esta enfermedad (AU)

[Paraparesis, hyperprolactinemia and adynamic ileus in Guillain-Barré syndrome]. / Paraparesia, hiperprolactinemia e íleo en el síndrome de Guillain-Barré

A case of Guillain-Barré with unusual autonomic dysfunction at its onset, that consisted of constipation and hypertension, followed by adynamic ileus and flaccid paraparesis with areflexia limited to the lower limbs, is presented. Inappropriate secretion of antidiuretic hormone and hyperprolactinemia were demonstrated, which resolved spontaneously afterwards. The adynamic ileus resolved and the paraparesis improved with gastric aspiration and intravenous immunoglobulin administration, only to worsen eighty days later. Paraparesis worsened, accompanied by hypertension, an abnormal hypotensive response to captopril and limb pain. The whole clinical picture resolved after a second course of intravenous immunoglobulin. Unusual clinical aspects of Guillain-Barré syndrome found in this case are reviewed, such as paraparesis, prolonged adynamic ileus and endocrine abnormalities, comparing them with available data from the neurological literature. Differential diagnosis with myelopathy, metabolic and paraneoplasic neuropathies, POEMS syndrome, chronic inflammatory demyelinating polyneuropathy and recurrent Guillain-Barré syndrome are commented on. Hyperprolactinemia is proposed as a marker, either of adenopituitary denervation or of the autoimmune response, in the course of this disease.

Quality of life of adolescents suffering from epilepsy living in the community.

OBJECTIVES: To examine the quality of life of a population sample of adolescents suffering from epilepsy. METHODS: All people aged 10-19 years diagnosed with epilepsy and without comorbid conditions in the Spanish province of Huesca were considered for the study. Quality of life was measured with the Spanish version of the Qolie-AD-48. RESULTS: A total of 66 young people with a mean age of 15 years had active epilepsy and agreed to participate; 30.3% had experienced seizures during the previous year. There were some differences in quality of life according to gender and socioeconomic status. Quality of life decreased with increasing severity of epilepsy (r = -0.63, P < 0.01). Medication neurotoxicity was associated with a lower quality of life over and above the effect of severity of the illness (partial r = -0.58, P < 0.01). Quality of life was negatively associated with the number of seizures per year (r = -0.64, P < 0.01), longer duration of the illness (r = -0.36, P < 0.01) and earlier age of onset (r = -0.29, P < 0.05). CONCLUSIONS: The quality of life of young people with epilepsy in community samples varies according to gender and socioeconomic status, but severity of the epilepsy and side-effects of medication are the main influence. This highlights the importance of optimal control of the seizures with medications with few side-effects.

[Clinical and neurochemical aspects of diaphragmatic myoclonus]. / Aspectos clínicos y terapéuticos de las mioclonías diafragmáticas.

The case of a 35-year-old woman with diaphragmatic myoclonus of four year duration is presented. The myoclonus deteriorated with anxiety, menstruation and orthostatism. It was frequently accompanied by urinary retention or incontinence. Several pharmacologic agents were shown to be ineffective until the myoclonus was suppressed with a combination of gabapentin and tiagabine. In this article, the respiratory center is proposed as the original focus of the myoclonus, a deficit of gamma-aminobutyric acid (GABA) in brainstem structures as its neurochemical substrate, and GABAergic enhancement as an effective therapeutic measure. The clinical manifestations, etiology, ancillary studies and treatment of diaphragmatic myoclonus are reviewed. Experimental evidence on the anatomical localization, physiology and neurochemistry of the respiratory center is examined. The authors try to relate some of the patient's clinical findings to the experimental data found in the medical literature. The action mechanisms of gabapentin and tiagabine are examined and these drugs are proposed as effective means of enhancing GABAergic neurotransmission and treating diseases with increased inspiratory drive.

Aspectos clínicos y terapéuticos de las mioclonías diafragmáticas / Clinical and neurochemical aspects of diaphragmatic myoclonus

Se presenta el caso de una paciente de 35 años con mioclonías diafragmáticas de 4 años de evolución. Las mioclonías empeoraban con la ansiedad, la postura en bipedestación y durante el período menstrual. Frecuentemente se acompañaban de retención o incontinencia de orina. Múltiples tratamientos farmacológicos se revelaron ineficaces hasta conseguir la supresión de las mioclonías con una combinación de los fármacos gabapentina y tiagabina. En este trabajo se propone al centro respiratorio como foco originario de las mioclonías diafragmáticas, al déficit de ácido gamma-aminobutírico (GABA) en el tronco cerebral como el sustrato neuroquímico causal, y a la facilitación de la neurotransmisión gabaérgica como una medida terapéutica eficaz. Se revisa la literatura médica sobre las manifestaciones clínicas, etiología, estudios complementarios y tratamiento de esta entidad. Se analizan las características anatómicas, fisiológicas y neuroquímicas del centro respiratorio obtenidas en condiciones experimentales, y se intentan correlacionar con los datos clínicos observados en la paciente. Finalmente, se examinan los mecanismos de acción de los fármacos gabapentina y tiagabina y se proponen como tratamiento para enfermedades con aumento del impulso inspiratorio, característica fundamental de las mioclonías diafragmáticas (AU)

Adaptación transcultural del cuestionario de medida de calidad de vida (QOLIE-AD-48) en adolescentes epilépticos / Cross-cultural adaptation of the quality of life inventory (Qolie-AD-48) for epileptic adolescents

Realizamos la adaptación de Qolie-AD-48 al castellano mediante un proceso de traducción-retrotraducción. Para comprobar las propiedades psicométricas del nuevo instrumento se administró el cuestionario a 54 adolescentes epilépticos. Previamente realizamos un pretest a un grupo piloto. Verificamos la fiabilidad mediante el coeficiente a- Cronbach, y la validez de constructo mediante el análisis factorial de las subescalas y el estudio de la correlación con otras medidas externas. Comprobamos la capacidad del nuevo instrumento para diferenciar entre los distintos grupos de gravedad de la epilepsia. La versión española de Qolie-AD-48 ha demostrado poseer unas propiedades psicométricas de fiabilidad y validez comparables a las del original, por lo que consideramos esta escala adecuada para la medida de la calidad de vida de los adolescentes epilépticos (AU)

[Adult GM2 gangliosidosis: improvement of ataxia with GABAergic drugs]. / Gangliosidosis GM2 del adulto: mejoría de la ataxia con fármacos GABAérgicos.

The authors present a case of adult GM2 gangliosidosis, B1 enzymatic type. The main clinical features found were cerebellar ataxia, proximal lower limb weakness and myokymia. The neurological examination, and the biochemical, electrophysiologic and imaging studies are all described. Decreased activity of the enzyme beta-hexosaminidase A in the metabolism of the sulfate substrate 4-MU-NAGS was found in serum. Global cerebellar atrophy was observed in a cranial nuclear magnetic resonance. The electrophysiologic study showed continuous spontaneous activity integrated by myokymia and neuromyotonic discharges in addition to signs of acute and chronic denervation. Disappearance of the myokymia and improvement in the ataxia were attained with the use of the GABAergic drugs gabapentin and tiagabine. The authors try to explain the clinical improvement obtained with the drugs by relating their mechanisms of action to the central nervous system neurotransmitter alterations proposed for this disease.

Gangliosidosis GM2 del adulto: mejoría de la ataxia con fármacos GABAérgicos / Adult GM2 gangliosidosis: improvement of ataxia with GABAergic drugs

Se presenta un caso de gangliosidosis GM2 de tipo enzimático B1 con fenotipo del adulto cuya expresión clínica está caracterizada por ataxia cerebelosa, debilidad muscular proximal de las extremidades inferiores y mioquimias. Se describen los hallazgos clínicos y los datos complementarios de tipo bioquímico, electrofisiológico y de imagen.Entre éstos se encontró actividad reducida de la enzima -hexosaminidasa A frente al sustrato sulfatado 4-MU-NAGS en suero, atrofia cerebelosa global en la resonancia magnética craneal, y en el estudio electrofisiológico, actividad espontánea continua en forma de descargas mioquímicas y neuromiotónicas, así como signos de denervación aguda y crónica. Se observó desaparición de las mioquimias y mejoría en la ataxia con la administración de los fármacos GABAérgicos gabapentina y tiagabina. Se intenta explicar la eficacia de estos fármacos, no utilizados previamente en el tratamiento de la gangliosidosis GM2, revisando sus mecanismos de acción e intentando relacionarlos con las alteraciones de la neurotransmisión en el sistema nervioso central propuestas para esta enfermedad. (AU)

[Progressive encephalomyelitis with rigidity. Clinical and electrophysiological aspects]. / Encefalomielitis progresiva con rigidez. Aspectos clínicos, electrofisiológicos y tratamiento con gabapentina.

A 72-year-old man presented with a chronic illness constituted by muscle rigidity affecting his lower limbs, trunk and neck, either spontaneous or triggered by stimuli, together with a spastic paraparesis, manual amyotrophy and pseudobulbar syndrome. The electrophysiologic study showed continuous motor unit activity integrated by normal motor unit potentials. Biochemical and imaging results were normal. These data suggest the diagnosis of idiopathic progressive encephalomyelitis with rigidity. Following administration of gabapentin (2000 mg daily), muscle rigidity and electromyographic continuous motor unit activity were suppressed. Transient drowsiness was the only side effect. The authors have tried to relate these findings to those found in the literature.

Encefalomielitis progresiva con rigidez. Aspectos clínicos, electrofisiológicos y tratamiento con gabapentina / Progressive encephalomyelitis with rigidity. Clinical and electrophysiologic aspects, and treatment with gabapentin

Se describe el caso de un paciente de 72 años de edad que presentó un proceso de evolución crónica constituido, esencialmente, por rigidez muscular de tronco, cuello y extremidades inferiores, exacerbada por estímulos tanto exógenos como endógenos, junto con paraparesia espástica, amiotrofia de las manos y síndrome seudobulbar. El estudio electrofisiológico evidenció una actividad muscular continua en forma de potenciales de unidad motora normales. Las pruebas complementarias bioquímicas y de imagen fueron normales. Estos datos apuntan al diagnóstico de encefalomielitis progresiva con rigidez, sin asociación con otra enfermedad. La administración de gabapentina a dosis de 2.000 mg/día suprimió la rigidez muscular y la actividad muscular continua en el estudio electromiográfico, con somnolencia transitoria como único efecto secundario. Se ha realizado una revisión bibliográfica sobre esa entidad, con la que se intentan relacionar los principales aspectos clínicos, neurofisiológicos y terapéuticos de nuestros hallazgos (AU)