[A descriptive analysis of the demand for ambulatory neurological care in the health district of Huelva]. / Análisis descriptivo de la demanda de asistencia neurológica ambulatoria en un área sanitaria de Huelva.

INTRODUCTION: In recent years the demand for ambulatory neurological care has risen. Studying this situation can help to improve health care planning and the quality of the referrals from primary care. AIM: To analyse a number of variables involved in the first visits referred from primary care to neurology services. PATIENTS AND METHODS: We conducted a prospective, descriptive study in which data was consecutively collected about 500 new patients from primary care who had appointments for a visit to general neurology services in the health district of the province of Huelva. Demographic features, the reason for referral, initial diagnoses and the case resolution index were analysed. RESULTS: Mean age was 51 years old, and patients were predominantly female (63.4%). The most frequent diagnoses were headaches (42.8%) and cognitive impairment (12%). In 8.2% of cases the referred patients had no neurological pathology. Data showed that 40.2% were discharged after the first visit. CONCLUSIONS: The demographic characteristics and reasons for the visit were similar to those previously published on other regions in Spain. The high percentage of direct discharges translates into a poor selection of the patients referred from primary care. Improving the quality of referrals would make it possible to enhance the efficiency of ambulatory neurological care.

[Atypical Guillain-Barre syndrome clustering: is it necessary to reconsider the diagnostic criteria and microbiological protocol?] / Agrupacion de casos de sindrome de Guillain-Barre atipico: es necesario redefinir los criterios diagnosticos y los protocolos microbiologicos?

INTRODUCTION: Guillain-Barre syndrome is classically defined as a symmetrical ascending acute polyradiculoneuropathy, although there are atypical variants that make diagnosis difficult. CASE REPORTS: The medical data of six patients in our hospital area are collected during the first quarter of 2013. Lumbar punctures, imaging, neurophysiological studies, ganglioside antibodies and serologies have been proposed in all cases. We focus on the atypical features as late hyporeflexia, increased frequency of asymmetry and distal paresis and initial fever. From a neurophysiological point of view, all patients presented sensorimotor axonal forms. The most consistent datas in early studies is the F wave's alteration. A Miller Fisher variant associated with faciocervicobraquial paresis and cerebral reversible vasoconstriction syndrome has been detected. A bilateral brachial paresis and lumbar polyradiculopathy in the context of influenza A infection is other interesting case. The saltatory variant with cranial nerve involvement and lower limbs paresis has been demonstrated in one patient. Bands in cerebrospinal fluid are positive in three cases and anti-ganglioside antibodies in one patient. The syndrome of inappropriate secretion of antidiuretic hormone may explain some of the hyponatremias registered. The first line of treatment are inmunoglobulins in all patients. Plasmapheresis exchanges has been used as an additional therapy in four cases. CONCLUSIONS: These clusters of six axonal cases with atypical clinical features justifies the need for knowledge of these variants in order to achieve an early treatment. Late hyporeflexia and brachialfaciocervico, saltatory and lumbar forms should be considered in the spectrum of Guillain-Barre syndrome. The etiological study should rule out a lots of pathogens as influenza A.

TITLE: Agrupacion de casos de sindrome de Guillain-Barre atipico: es necesario redefinir los criterios diagnosticos y los protocolos microbiologicos?Introduccion. El sindrome de Guillain-Barre se define clasicamente como una polirradiculopatia aguda simetrica ascendente, si bien existen variantes atipicas que dificultan el diagnostico. Casos clinicos. Se recogen las historias clinicas de seis pacientes de nuestra area hospitalaria durante el primer trimestre de 2013. Se han realizado punciones lumbares, electroneurograma-electromiograma y analiticas con autoinmunidad en todos los casos. El conjunto de la muestra destaca por la presencia de caracteristicas atipicas, como hiporreflexia tardia, mayor frecuencia de asimetria y afectacion distal, asi como fiebre inicial. Desde el punto de vista neurofisiologico, todos los pacientes presentan formas axonales de tipo sensitivomotoras y las alteraciones de la onda F son el dato mas precoz. Se identifica una variante de sindrome de Miller Fisher asociada a paresia faciocervicobraquial y sindrome de vasoconstriccion cerebral reversible. Otro caso auna las variantes de paresia braquial bilateral y polirradiculopatia lumbar en el contexto de infeccion aguda por influenza A. La variante saltatoria ha sido demostrada en otro paciente. Todos los pacientes han recibido tratamiento con inmunoglobulinas, y en dos de ellos se sumo la plasmaferesis como terapia adicional. Conclusiones. La agrupacion de seis casos axonales con caracteristicas clinicas atipicas justifica la necesidad del conocimiento de estas variantes para lograr un diagnostico y un tratamiento precoz. La hiporreflexia tardia y las formas faciocervicobraquiales, saltatorias y lumbares deben considerarse dentro del espectro del sindrome de Guillain-Barre. El estudio etiologico debe incluir el cribado de numerosos patogenos, entre los que debe incluirse el virus influenza A.

[Cerebral calcifications: a clue for a diagnostic process in a nonspecific clinical case]. / Calcificaciones cerebrales típicas como orientación de cuadro clínico inespecífico.

Coeliac disease is a gluten sensitive enteropathy, autoimmune in origin, which has been traditionally regarded as a gastrointestinal disease. Years later it has been reported an extraintestinal affection. A huge number of neurological syndromes of unknown cause had been initially described in association with coeliac disease, with total or partial response to a gluten free-diet. A specific kind of occipital cerebral calcifications in relation to coeliac disease has been also described, and sometimes it means the existence of a syndrome called "Gobby's Syndrome". We show a patient with a mild unknown coeliac disease, a woman who had occipital cerebral calcifications in a TAC cerebral, which was made because of her intractable migraines and that it lead to the diagnosis. The migraine disappeared after a gluten free-diet, like similar cases reported by literature. The fact of existing neurological symptoms associated to coeliac diseases opens a therapeutic window of opportunity because they would respond to a gluten free-diet.

[Cystinosis: an infrequent cause of distal myopathy]. / Cistinosis: una causa infrecuente de miopatía distal.

INTRODUCTION: Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. CASE REPORT: Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. CONCLUSIONS: Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication.

Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene.

Two Spanish sibs with familial amyloidotic polyneuropathy (FAP) homozygous for the V30M-TTR gene, were diagnosed by DNA and protein analyses. Their clinical picture was very similar to the Majorcan FAP heterozygous patients except for the sensorimotor syndrome which was more aggressive. Noteworthy were clinical differences between the sibs concerning autonomic involvement, cranial neuropathy and kidney disturbances. These differences can be due to genetic and/or environmental factors.

[Reversible posterior leukoencephalopathy, severe hypertension, and cocaine abuse]. / Leucoencefalopatía posterior reversible, hipertensión severa y abuso de cocaína.

Reversible posterior leukoencephalopathy syndrome is a brain disorder characterized by headache, nausea, vomiting, visual disturbance, depressed level of consciousness, convulsions and occasionally focal neurologic deficits. It is commonly associated with malignant hypertension, toxemia of pregnancy or the use of immunosuppressive agents. Early diagnosis and specific treatment is essential. We report a case of reversible posterior leukoencephalopathy in the context of a hypertensive crisis in an habitual cocaine sniffer. Reversible posterior leukoencephalopathy must be suspected in every patient with hypertensive crisis and compatible clinic manifestation. Neuroimaging studies show characteristic features which confirm the diagnosis.

[Lumbosacral plexopathy as a form of presentation of an aneurysm of the iliac artery]. / Plexopatía lumbosacra como forma de presentación de un aneurisma de la arteria ilíaca.

INTRODUCTION: The etiology of lumbosacral plexopathy is often due to compression. One of the less common causes of this is aneurysm of the iliac artery. However, 13% of the patients with this disorder initially have symptoms of plexus irritation or deficit. CLINICAL CASE: We describe the case of a 42 year-old-man, with no previous medical history, who complained of right-sided sciatica for the previous three months. On examination there were clinical signs of a lesion of the right lumbosacral plexus. On CT of the pelvis and MR of the lumbar spine there were images compatible with an aneurysm of the right iliac artery. This diagnosis was confirmed on arteriography. Treatment was surgical (aneurysmography and right iliofemoral by-pass). The pain disappeared and the motor deficit improved considerably. CONCLUSION: When a patient presents with lumbosacral plexopathy, an iliac aneurysm should be considered as a possible etiological factor. In such cases early diagnosis is essential, since surgical treatment will usually resolve the clinical problem.

[Bilateral hypoacusia and basilar dolichoectasia]. / Hipoacusia bilateral y dolicoectasia basilar.

INTRODUCTION: The clinical findings of basilar dolichoectasia (DB) are caused by compression of the cranial nerves, vertebrobasilar ischaemia, hydrocephaly and compression of the brainstem. Hypoacusia as an isolated finding in DB is very rare. CLINICAL CASE: We describe the case of a 48-year-old hypertensive man with bilateral hypoacusia as an isolated finding in DB. Diagnosis was made on MR, and arteriography showed changes characteristic of an anomalous blood vessel. CONCLUSIONS: In patients with hypoacusia of uncertain aetiology, specially if they are also hypertensive, one should rule out the possibility of DB using cerebral magnetic resonance or angioresonance.

[Diagnosis of centronuclear myopathy in adults]. / Diagnóstico de la miopatía centronuclear en el adulto.

INTRODUCTION: Centro-nuclear myopathy is a congenital myopathy characterized by the presence of central nuclei on muscle biopsy. Three clinical forms have been distinguished. Classification depends on the type inherited, age of onset and degree of muscle involvement. CLINICAL CASE: We describe the case of a female patient in whom the diagnosis of centro-nuclear myopathy was made at the age of 53. The patient had not been studied previously, but was sent to us by the Department of Anaesthesia. The clinical features had first appeared in infancy. There was no family history of this disorder. Apparently this was a sporadic case. CONCLUSIONS: In the differential diagnosis of adult patients with girdle paresthesias centro-nuclear myopathy should be included. This unusual muscle disorder may be need to be considered if anaesthesia is required.

[Uremic myopathy]. / Miopatía urémica.

INTRODUCTION: The neurological features of chronic renal failure are very varied. Uremic myopathy is a controversial condition. In most cases it is related to the secondary hyperparathyroidism which these patients develop, and its characteristics are superimposed on their osteomalacia myopathy. CLINICAL CASES AND CONCLUSIONS: We report two patients with terminal chronic renal failure on hemodialysis who complained on difficulty with walking. The clinical findings, laboratory and neurophysiological investigations and the histopathological report of the muscle biopsy were similar to those of osteomalacia myopathy. The muscle weakness of patients with terminal chronic renal failure is related to many factors. The most important of these is the secondary hyperparathyroidism which leads to osteomalacia myopathy. On muscle biopsy there was isolated fibre necrosis of both types 1 and 2 (case 1) and of type 2 alone (case 2), which is considered to be the commonest finding. Although treatment with high doses of vitamin D3, or its hydroxylated metabolites, has been recommended, it was not effective in our patients.