[Klüver-Bucy syndrome as the initial symptom of adult-type ceroid lipofuscinosis (Kufs' disease)]. / Síndrome de Klüver-Bucy como manifestación inicial de ceroidolipofuscinosis del adulto (enfermedad de Kufs).

AIMS: The purpose of this paper is to report the case of a patient with Kluver-Bucy syndrome caused by adult-type ceroid lipofuscinosis (Kufs' disease) and to review the literature dealing with the causes of this syndrome. CASE REPORT: A 38-year-old male examined because of behavioural changes and cognitive impairment. Brain biopsy findings were characteristic of adult-type ceroid lipofuscinosis. This patient fulfilled the criteria of Kufs' disease, since he had mixed clinical features belonging to both type A (neuropsychiatric disorders) and B (aphasia-apraxia-agnosia syndrome) of the disease. The initial symptoms included several clinical features of Klüver-Bucy syndrome (probable visual agnosia, apathy, increased sexual activity, lack of sexual inhibition, hypermetamorphopsia, increased oral behaviour and changes in dietary habits). CONCLUSIONS: Adult-type ceroid lipofuscinosis is an infrequent clinical entity that is difficult to diagnose owing to the absence of peripheral biological markers and the need to confirm such a diagnosis by means of a histopathological study.

Síndrome de Klüver-Bucy como manifestación inicial de ceroidolipofuscinosis del adulto (enfermedad de Kufs) / Klüver-Bucy syndrome as the initial symptom of adult-type ceroid lipofuscinosis (kufs’ disease)

Objetivos. Presentar un paciente con síndrome de Klüver-Bucy causado por ceroidolipo fuscinosis del adulto (enfermedad de Kufs) y revisar la literatura sobre a las causas de dicho síndrome. Caso clínico. Se trata de un varón de 38 años de edad valorado por cambios conductuales y deterioro cognitivo. La biopsia cerebral fue característica de ceroidolipo fuscinosis del adulto. Este paciente cumplía los criterios de la enfermedad de Kufs definida, ya que presentaba características clínicas mixtas de los tipos A (alteraciones neuropsiquiátricas) y B (síndrome afaso-apractoagnósico) de dicha enfermedad. Los síntomas iniciales incluyeron varias características clínicas del síndrome de Klüver-Bucy (probable agnosia visual, apatía, aumento de la actividad sexual, falta de inhibición sexual, hiper-metamorfopsia, aumento de la conducta oral y cambios en los hábitos dietéticos). Conclusiones. La ceroidolipo fuscinosis del adulto es una entidad infrecuente y de difícil diagnóstico dada la ausencia de marcadores biológicos periféricos y la necesidad de la confirmación de dicho diagnóstico mediante un estudio histopatológico

Aims. The purpose of this paper is to report the case of a patient with Klüver-Bucy syndrome caused by adult-type ceroid lipofuscinosis (Kufs’ disease) and to review the literature dealing with the causes of this syndrome. Case report. A38-year-old male examined because of behavioural changes and cognitive impairment. Brain biopsy findings were characteristic of adult-type ceroid lipofuscinosis. This patient fulfilled the criteria of Kufs’ disease, since he had mixedclinical features belonging to both type A (neuropsychiatric disorders) and B (aphasia-apraxia-agnosia syndrome) of the disease. The initial symptoms included several clinical features of Klüver-Bucy syndrome (probable visual agnosia, apathy, increased sexual activity, lack of sexual inhibition, hypermetamorphopsia, increased oral behaviour and changes in dietaryhabits). Conclusions. Adult-type ceroid lipofuscinosis is an infrequent clinical entity that is difficult to diagnose owing to the absence of peripheral biological markers and the need to confirm such a diagnosis by means of a histopathological study

[Prothrombotic factors in stroke]. / Factores protrombóticos en la enfermedad cerebrovascular isquémica.

INTRODUCTION: Factor V Leiden and prothrombin 20210A polymorphisms are the most common mutations related to deep vein thrombosis, however their relationship with stroke is debated. This paper studies the possible relationship between both entities. MATERIAL AND METHODS: A case-control study was conducted during 27 months to study their association. A total of 312 stroke cases were included, 73 were under 60 years. Control group was obtained from blood donors. Factor V Leiden and prothrombin 20210A polymorphism prevalence was studied. Results were analyzed according to the age and the type of stroke (TOAST classification, 1993). RESULTS: Factor V Leiden was not related to stroke in the general population (OR: 0.65; 95 % CI: 0.18-2.27). The study according to age did not show any association (younger than 60 years: OR: 1.12; 95 % CI: 0.21-5.90; older than 60 years: OR: 0.50; 95 % CI: 0.11-2.14). However, prothrombin 20210A polymorphism OR in cases under 60 was OR: 2.92; 95 % CI: 0.71-11.92 suggesting a possible association between this mutation and stroke. There was no association in the general population (OR: 2.0; 95 % CI: 0.63-6.29) or in people over 60 (OR: 1.73; 95 % CI: 0.51- 5.83). The analysis according to stroke subtype did not show any association in the distribution of any of the polymorphisms studied. CONCLUSION: This study suggests that prothrombin 20210A polymorphism may play a role in stroke under 60 years of age. Factor V Leiden does not seem to be related to stroke.

[Acute presentation of leukodystrophy due to mitochondrial cytopathology and multiple deletions of mitochondrial DNA]. / Leucodistrofia de presentación aguda por citopatía mitocondrial y deleciones múltiples del ADN mitocondrial.

INTRODUCTION: Deletions of mitochondrial DNA (mtDNA) are a known cause of various mitochondrial cytopathies, which are sporadic and usually not due to maternal transmission. The multiple deletions are usually transmitted on a Mendelian pattern, and are frequently of autosomal dominant character. Leukodystrophy may be part of the picture, or even the form of presentation, of some mitochondrial cytopathies. Thus, in a case of leukoencephaly of unknown origin, mitochondrial cytopathy should be considered in the differential diagnosis. CLINICAL CASE: We present the case of a boy with no previous clinical abnormalities who, at the age of 13, suddenly fell to the floor with an encephalopathy which required aggressive treatment, needing mechanical ventilation and prolonged sedation. Following partial recovery spastic-dystonic quadriplegia remained. Neuroimaging showed advanced leukodystrophy with small hemorrhages in the white matter, which later disappeared. After rejecting other aetiologies, mitochondrial cytopathies in muscle were studied. A partial defect of the I and IV complexes of the respiratory chain and two deletions of mtDNA were shown. CONCLUSIONS: This case is another example of the variable clinical presentation of mitochondrial cytopathies and yet another argument for their inclusion in the diagnosis of leukodystrophy of unknown origin.

Takayasu's arteritis: transcranial Doppler findings and follow-up.

Takayasu's arteritis is an inflammatory disease that produces a narrowing of the aorta and its major branches. The transcranial doppler findings and its value have not been clearly determined. We describe a patient with a history of orthostatic syncopal attacks, and transitory ischemic attacks. Arteriography showed severe narrowings and occlusions of multiple large branches of the aortic arch. Transcranial doppler showed a low flow velocity in both middle cerebral arteries, low pulsatility index and damping in the waveform. After surgery, transcranial doppler ipsilateral to the graft became almost normal and the collateralization pattern had changed. This case provides further evidence that the Takayasu's arteritis leads to relevant changes in the transcranial doppler waveform and that this technique can help in the follow-up of these patients.

Development of myelopathy before herpes zoster rash in a patient with AIDS.

We describe the case of a patient with AIDS who developed progressive myelopathy due to varicella-zoster virus 2 months before the appearance of skin lesions typical of herpes zoster. Varicella-zoster virus was isolated from his CSF. Therapy with acyclovir failed to control his neurological complications despite its in vitro efficacy against the isolates.

[Candida albicans meningitis in 2 parenteral drug addicts. Review of the literature]. / Meningitis por Candida albicans en 2 adictos a drogas por vía parenteral. Revisión de la literatura.

BACKGROUND: HIV infection and parenteral drug abuse (PDA) are frequently associated conditions. Both are at increased risk of developing specific types of Candida infections. Localized CNS infection is an exceptional finding. METHODS: We report two cases of meningitis in PDA due to Candida albicans--one of them HIV positive, and review the literature emphasizing the characteristics of 8 HIV positive patients 4 of them PDA. RESULTS: Most frequent presentation symptoms were fever and headache for more than two weeks. Three patients were found normal on neurologic examination. In two cases CT scan showed hydrocephalus. In one case CNS infarcts were demonstrated on MRI. Median CSF cell counts were 109, mostly lymphocytic. Two cases had elevated adenosine deaminase levels in CSF. Two cases were treated with fluconazole, one improved and the other was cured. Four patients died due to the infection, one of them received no specific treatment. CONCLUSIONS: Candida meningitis can be a manifestation of HIV related immunosuppression. Clinical and CSF findings are mild. Mortality is high. Probably a maintenance therapy is required.

[Craniocervical dystonia and facial hemispasm: clinical and pharmacological characteristics of 52 patients]. / Distonía craneocervical y hemiespasmo facial: características clínicas y farmacológicas de 52 enfermos.

The results obtained in a retrospective study on clinical and pharmacological aspects of 41 patients suffering craniocervical dystonia (24 with blepharospasm, 17 with torticollis) and 11 with spasm are here presented. Mean age of symptoms onset was 57.4, 43.8 and 55.8 years old respectively; this variable was comparatively higher in females than in males with torticollis. The prevalence of blepharospasm and hemifacial spasm was higher in females. A 38.7% of patients suffering blepharospasm also presented oromandibular dystonia (Meige's syndrome). Other abnormal movements less frequently associated were cephalic tremor, postural hand tremor and larynx dystonia. In three cases with blepharospasm there was family history of Parkinson's disease and in two cases with torticollis there was family history of essential tremor. The mean age of onset was lower in patients with clonic torticollis and the evolution time of symptoms was longer than in those who presented the tonic type. Clonic torticollis were less frequently associated to pain. Trihexyphenidyl (anticholinergic) was the most efficient drug in craniocervical dystonia, and clonazepam in facial hemispasm. In general, as earliest the age of onset was, as better the therapeutical response was.

[Focal dystonias and facial hemispasm: treatment with botulinum A toxin]. / Distonías focales y hemiespasmo facial: tratamiento con toxina botulínica A.

We report the results of the treatment of 80 patients with various idiopathic focal dystonia and essential hemifacial spasm with Botulinum A toxin. A statistically significant improvement was obtained in our 34 patients with blepharospasm, 19 patients with hemifacial spasm, 59% of 22 patients with cervical dystonia and 60% of 5 patients with hand dystonia. Mean duration of the benefit of each injection was 15.3, 16.3, 7.6 and 8.7 weeks respectively. Adverse effects were local and transient. We concluded that botulinum A toxin is a safe and effective therapy for patients with focal dystonia and hemifacial spasm.

[Focal dystonias and facial hemispasm: treatment with botulinum A toxin]. / Distonías focales y hemiespasmo facial: tratamiento con toxina botulínica A.

We report the results of the treatment of 80 patients with various idiopathic focal dystonia and essential hemifacial spasm with Botulinum A toxin. A statistically significant improvement was obtained in our 34 patients with blepharospasm, 19 patients with hemifacial spasm, 59% of 22 patients with cervical dystonia and 60% of 5 patients with hand dystonia. Mean duration of the benefit of each injection was 15.3, 16.3, 7.6 and 8.7 weeks respectively. Adverse effects were local and transient. We concluded that botulinum A toxin is a safe and effective therapy for patients with focal dystonia and hemifacial spasm.

Chronic inflammatory demyelinating polyneuropathy as first manifestation of human immunodeficiency virus infection.

We studied three patients who were admitted to the hospital because of progressive weakness without other systemic signs or symptoms. All three cases were young males who had been intravenous drug user for many years. Electrophysiologic study showed prolonged distal latencies and marked slowing of motor and sensory conduction velocities, consistent with primary demyelination. Nerve biopsy also showed signs of demyelination. Antibodies against HIV in CSF and blood were detected during the diagnostic evaluation. Clinical and electrophysiological studies improved in two cases after prednisone administration. Patients with predominant motor demyelinating neuropathies and risk factors should be screen for HIV infection.

Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder.

We report a family with branchial myoclonus, spastic paraparesis, and cerebellar ataxia in which six members were affected in two generations and the inheritance appeared to be autosomal dominant. Age at onset ranged from 40 to 50 years. Rhythmic myoclonus involving the palate, pharynx, larynx, and face was followed by truncal ataxia and spastic paraparesis in most patients. CT and MRI revealed mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord. The pons appeared normal and the olives not hypertrophic. CSF studies revealed severe reduction of the serotonin metabolite 5-hydroxyindoleacetic acid. Treatment with 5-hydroxytryptophan and carbidopa at highest tolerated dose mildly improved ataxia but did not modify the myoclonus. Treatment with anticholinergics, benzodiazepines, phenytoin, valproate, carbamazepine, and baclofen was unsuccessful. The clinical symptoms were progressive, leading to death or severe disability 5 to 10 years after the onset of the disease.

Recovery from rheumatoid cerebral vasculitis.

A 48-year-old woman with the classical features of longstanding rheumatoid arthritis acutely developed a diffuse cerebral disease. Angiograms showed extensive cerebral vasculitis, and CT scan demonstrated cerebral oedema and haemorrhage. Her clinical state, EEG and CT scan rapidly returned to normal following treatment with corticosteroids.