[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.

[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.

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.

[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.

[Pourfour du Petit syndrome]. / Síndrome de Pourfour du Petit.

The Pourfour du Petit's syndrome is characterized by the unilateral appearance of mydriasis, lid retraction and exophthalmos. It suggests the existence of a localized oculosympathetic hyperactivity. It tends be to caused by injuries that suppose a stimulus of the sympathetics fibers at level of the proximal portion of the first dorsal root or in the cervical sympathetic chain. We report the clinical case of a young patient who developed a Pourfour du Petit's syndrome secondary to a small condrosarcoma of the proximal portion of the first rib. The observation of this syndrome is exceptional but its knowledge permits, by the great topographic value that possesses, a rapid identification of the causative injury.

[Patient with Hansen disease and lepromatous reaction with predominant neural involvement]. / Paciente con enfermedad de Hansen y reacción lepromatosa con afectación neural predominante.

We describe a patient with a diagnosis of Hansen's disease borderline type, presenting as cutaneous lesions and silent multineuritis. Samples of nasal mucus, earlobe and cutaneous lesions were positive for acid-fast bacilli. He was given treatment with rifampin, dapsone and clofazimine. Five years later, he developed fever, poliarthritis, orchitis and hepatic involvement. Searching for acid-fast bacilli in many cutaneous and mucosal locations was fruitfulness. Because of clinical suspicion of erythema nodosum leprosum, he was treated with steroids with improvement of his clinical picture, but subsequently he developed multineuritis with many sensitive symptoms. A high number of bacilli was seen in nerve biopsy. We comment on atypical features of clinical evolution and erythema nodosum leprosum, and emphasize the significance of large number of bacilli into peripheral nerve in contrast with their absence at other levels.

[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.

[The use of FD-6 monoclonal antibody in diagnosing and detecting the carriers of familial amyloidotic polyneuropathy type I]. / Utilidad del anticuerpo monoclonal FD-6 para el diagnóstico y la detección de portadores en la polineuropatía amiloidótica familiar tipo I.

Familial amyloidotic polyneuropathy type I (FAF-I) is caused by a specific genetic mutation that gives rise to a transthyretin anomaly whose presence in serum constitutes the biochemical marker for this disease. We studied the serum of 7 patients and 16 asymptomatic members of their immediate families using ELISA with FD-6 monoclonal antibody to detect the transthyretin anomaly. Positive results were found for the 7 patients, including the 2 patients whose disease was apparently sporadic, and 12 carriers were detected among the family members. This technique makes sural nerve biopsy unnecessary for establishing a diagnosis in patients whose clinical signs are consistent with FAP-I. Asymptomatic carriers are also detected, facilitating appropriate genetic counseling.

[Peripheral neuropathy in progressive systemic sclerosis]. / Neuropatía periférica en la esclerosis sistémica progresiva.

We report a patient that developed a sensorimotor polyneuropathy more than a year before the appearance of the typical clinical signs of progressive systemic sclerosis. A sural nerve biopsy showed epineural vasculitis with involvement of the basal membrane of the endoneural vessels, without proliferation of the connective tissue.

[Gelastic seizures, precocious puberty and hypothalamic hamartomas. A case report and the contributions of Single Photon Emission Computed Tomography (SPECT)]. / Síndrome de crisis gelásticas, pubertad precoz y hamartoma hipotalámico. Presentación de un caso y aportaciones del SPECT.

We present a patient with gelastic seizures, precocious puberty and a hypothalamic hamartoma. The diagnostic method of choice for hypothalamic hamartoma is new generation MRI. The characteristic MRI images along with lack of growth during the course of disease indicates a diagnosis of hamartoma firmly with no need for pathological studies. Although the physical nature of gelastic seizures in this syndrome is a subject of dispute, SPECT findings point to activity at a distance from nerve routes connecting the hypothalamus to the cortical regions (the temporal region in this case). Prognosis improves if the various components of the syndrome are treated early and when dysgenesis is less extensive.

[Neoplastic lumbosacral plexopathy and "hot foot"]. / Plexopatía lumbosacra neoplásica y "pie caliente".

Neoplastic lumbosacral plexopathy is a frequent and disabling complication in subjects with cancer. Its clinical presentation is characterized by pain, muscle weakness, sensory complaints in one or occasionally both limbs associated with the tumoral symptoms. The presence of autonomic symptoms is less frequent; one of these is the "hot and dry foot". We present two patients, one with prostatic cancer and the other with myxoid liposarcoma, who developed a lumbosacral plexopathy as a manifestation of the extension of the neoplastic process; in both cases there was in addition a clear difference in the temperature of the affected limb. Although infrequent, the "hot and dry foot" it constitutes an early sign of metastatic plexopathy which facilitates the differential diagnosis with preforaminal lumbosciatic radiculopathies.