Biomedical subjects

M Gutiérrez-Molina

Publications and source records attributed to M Gutiérrez-Molina.

14 recordsLinked to original sources

PubMed2005

ANCA-associated vasculitis as paraneoplastic syndrome with colon cancer: a case report.

Coexistence of a vasculitis and a neoplastic disease is rare and the pathogenesis is unknown. Most of these associations refer to leukocytoclastic or poliarteritis nodosa (PAN)-type vasculitis and hematological malignancies. There are few reports of vasculitis in patients with solid tumours and there are also few reports of paraneoplastic ANCA-associated vasculitis. We report a case of p-ANCA-positive vasculitis with peripheral nerve involvement associated with a colon cancer. Vasculitis resolved after corticoid treatment and surgical removal of the tumour.

Adenocarcinoma↗

PubMed2005

[Muscle-eye-brain disease. Presentation of one case with genetic study].

INTRODUCTION: The objective [corrected] is to present a case of muscle-eye-brain (MEB) disease with genetic study. MATERIAL AND METHODS: We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral biopsy and genetic studies were performed. RESULTS: Severe visual acuity impairment with optic atrophy from the first months of life, abnormal VEP and ERG, CT and MR showing < > image of the cerebral cortex and subcortical white matter with myelinating changes; the histologic study of the cerebral biopsy sample showed hypomyelinating lesions and migration changes. The patient is alive at 21 years of age. The genetic study confirmed the presence of two recessive mutations, c.1274G>C and c.1895+1_4delGTGA, within the POMGnT1 gene. CONCLUSIONS: The patient shows typical clinical, neurophysiological, histological and genetic MEB features.

Adult↗

PubMed1997

Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF).

OBJECTIVES: We analyzed the percentage of mitochondrial DNA (mtDNA) heteroplasmy in blood samples of 13 individuals belonging to a three family generation of myoclonic epilepsy with ragged-red fibers (MERRF) and compared the 5 affected patients and the 8 unaffected relatives. MATERIAL AND METHODS: DNA was extracted from blood and muscle of the proband and from blood of 12 maternal relatives. A PCR restriction analysis method was used to detect the mutation. RESULTS: The proband had the complete MERRF phenotype. The phenotype in three other individuals in the maternal lineage was consistent with the MERRF syndrome. The remaining were asymptomatic. The np 8344 mutation was observed in muscle and blood of the proband, and in blood from every one of 12 maternal relatives, ranging from 44% to 83% of mutated genomes. Symptomatic individuals had higher levels (P < 0.001) of mutated mtDNA than asymptomatic maternal relatives. However, high proportions of mutant genomes (up to 63%) were found in asymptomatic relatives. CONCLUSIONS: Although there seems to be a gene dosage effect in MERRF, we found no absolute relationship between the relative proportion of mutant genomes in blood and clinical severity. Factors other than gene dosage in blood may account for the differences in clinical phenotype.

Adult↗

PubMed1997

[Menkes' disease: anatomo-clinical presentation of a case].

We describe a case of Menke's disease with severe neurological involvement, convulsive crises and characteristic hair anomalies (scanty, fragile, macroscopically hypopigmented and microscopically kinked) which led to rapid diagnosis. Vascular abnormalities with elongated, twisted arteries, skeletal abnormalities (more wormian cranial bones than usual, lateral spurs of metaphyses) and vesicle diverticuli. Electron microscopy of skeletal muscle showed concentrically laminated bodies, possibly of mitochondrial origin. Respiratory chain enzyme activity was normal. The patient died at the age of two and a half. On necropsy, histological abnormalities characteristics of the illness were seen (loss of neurones in the granular layer of the cerebellum, the neurones of Purkinje had thickening of the dendrites which spread out in the form of a weeping willow, reduplication and fragmentation of the internal elastic layer of muscle arteries). In the cortex of the cerebellum mega-mitochondria with electron-dense bodies, were seen on electron microscopy. This is the first case of Menke's disease described in the Spanish literature which includes pathology and electron microscope studies.

Brain↗

PubMed1995

Multiple intraspinal low-grade astrocytomas mixed with lipoma (astrolipoma). Case report.

Multiple intraspinal low-grade astrocytomas without neurofibromatosis stigmata and low-grade astrocytoma with intermingled areas of adipose tissue have not been reported previously. The authors present the case of a 48-year-old woman with a 7-month history of paraparesis. When she underwent surgery, multiple intraspinal mixed tumors made up of astrocytes mingled with adipose cells were found and excised. In this report, the authors refer to this tumor as an "astrolipoma" and discuss its characteristics.

Astrocytoma↗

PubMed1994

Small arterial granular degeneration in familial Binswanger's syndrome.

A 55-year-old mildly hypertensive woman died after having developed a subcortical dementia during the past 9 years, with focal neurological signs. She presented at the age of 46 years with short episodes of dizziness and diplopia, suggesting that transient ischemic attacks involved the posterior fossa structures. Over the next 8 years, she developed difficulty in walking, urinary incontinence and seizures. On examination in 1989, she was severely demented. There was tetraparesis, bilateral arm and leg spasticity with hyperreflexia and bilateral Babinski signs. She showed epilepsia partialis continua involving the eyes, left hemiface and limbs. CT showed hypodensity of the white matter and lacunes in the basal ganglia and centrum semiovale, moderate hydrocephalus with cerebellar and cortical atrophy. Clinical and radiological features were similar to those of Binswanger's disease. Similar cases had occurred in the family affecting the patient's grandfather, father and two brothers, suggesting an autosomal dominant hereditary disease. Postmortem examination disclosed a Binswanger type of leukoencephalopathy caused by a peculiar microangiopathy characterized by a slightly basophilic small arterial granular degeneration of the medial sheath associated with the presence of ballooned smooth muscle cells with clear cytoplasm. Electron microscopic study revealed degenerative changes in the parietal vessels with notable increase of basal-membrane-type material and electron-dense granular deposits. These lesions could correspond to a specific familial pathology of the small arteries of the brain. They are identical to those reported in some patients with autosomal dominant inheritance. For other patients with similar clinical features and the same familial pattern, reported as "hereditary multi-infarct dementia'' and "chronic familial vascular encephalopathy'', there are no sufficient objective pathological facts to consider that they have the same disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Arteries↗

PubMed1994

Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity.

In most of the cases previously described, the defect on complex II was suggested by low activity of succinate cytochrome C reductase (SCCR). The clinical pattern of the previous 10 cases is heterogeneous and may be limited to one particular tissue or be of a more general nature. We report a 22-year-old-woman, daughter of consanguineous parents, with generalized muscle weakness, easy fatigability and benign course, who showed a decrease of SCCR activity in mitochondria of muscle fibers. Free carnitine (FC) concentration was decreased in muscle as well. The muscle biopsy showed a mild variation in fiber size, with fiber type I predominance, subsarcolemmal oxidative DPNH accumulations, excess of neutral lipids and abnormally large mitochondria with paracrystalline inclusions. A possible inheritance pattern is discussed. Coenzyme Q10 therapy in this patient induced a significant increase of global MRC index score and a decrease of the turns-mean amplitude ratio in the automatic analysis of the EMG.

Adult↗

PubMed1993

Can nimodipine prevent ischaemic reperfusion injury in the rat brain?

Reperfusion injury is a pathophysiological entity distinct from the primary ischaemic injury; the oxygen arriving with blood recirculation, although necessary for alleviating the ischaemic status, may be harmful and provoke additional injury in the already damaged tissue. This study aims to analyse whether nimodipine reduces cerebral dysfunction after transient global cerebral ischaemia, using our previously described experimental model, which permits the impregnation of cerebral tissue during the periods of ischaemia and reperfusion. Some aspects of this study contribute to our understanding of the reperfusion injury concept. Three groups of rats were used. Animals in Group 1 (n = 13) served as normal controls for neurophysiological recordings. Rats in Groups 2 (n = 7) and 3 (n = 7) were subjected to global cerebral ischaemia and either isotonic saline (Group 2) or nimodipine solution (Group 3; 40 micrograms/kg) was intra-arterially injected through the external carotid artery during ischaemia and reperfusion and distributed to the circle of Willis. Seventy-two hours after global cerebral ischaemia somatosensory evoked potentials were evaluated and P1 wave latency was used to compare the three groups of animals. The peak onset of this wave was 8.13 +/- 1.5 msec, 18.63 +/- 3.1 msec and 13.17 +/- 2 msec for Groups 1, 2 and 3 respectively. P1 latency was significantly higher in Group 2 than in Groups 1 and 3 (p < 0.01). Histopathological findings showed that the level of injury in the hippocampus and striatum in Group 3 was more limited than in Group 2, although no statistical significance could be found.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

PubMedDate not supplied

[Schilder's diffuse myelinoclastic sclerosis].

OBJECTIVE: The aim of this study is to analyze clinical features, neuroradiological findings and evolution associated with Schilder s disease (SD). PATIENTS AND METHODS: We describe 5 cases (4 female/1 male) diagnosed of SD. Clinical characteristics, neuroimaging (CT and MRI), EEG, evoked potential analysis (4/5) and laboratory tests are provided, including the level of serum very long chain fatty acid of plasma cholesterol esters (3/5). RESULTS: Patients were aged between 7 and 12 years. The first clinical manifestations were: hemiparesis (3/5), quadriparesis dysarthria (1/5), and seizures cerebellar dysfunction (1/5). Other clinical features were: partial seizures (3/5), cerebellar dysfunction (2/5), loss of sensibility (3/5), visual loss (1/5), and dysarthria (2/5). CT scan and MRI showed large zones of hypodensity in the hemispheric white matter (4/5) with enhancement in T2 weighted MRI images. This finding was also observed in medulla (1/5) and cerebellum (1/5). Laboratory data were normal. EEGs showed general slow background patterns in all cases. Abnormal evoked potential analysis were recorded in 3 children. Clinical improvement followed the steroid therapy in all cases. Clinical evolution was: minimal motor disabilities (5/5), recurrences (3/5), controlled seizures (3/3), and psychomotor retardation (1/5). CONCLUSIONS: SD is a rare demyelinating disorder, with a probable relationship to multiple sclerosis. The course of this disease is unpredictable; recurrences may appear and sequelae are frequently observed. Diagnosis should be based on clinical features, neuroradiological findings and evolution.

Child↗

PubMedDate not supplied

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].

INTRODUCTION: Lafora s disease is a type of progressive myoclonic epilepsy with bad prognosis. Until now diagnosis was based on finding characteristic intracytoplasmatic polyglucosan bodies in biopsies of sweat secreting cells in the skin. Recently the gene responsible has been discovered. This permits firm diagnosis and screening of carriers. We present the case of a child diagnosed on molecular genetic studies. CLINICAL CASE: A 12 year old boy with a clinical history of three febrile seizures at the age of one year but no other abnormalities, presented a seizure of visual disorder with secondary generalization. There was no family history of seizures. Following a period of normality he had further seizures (clonic, visual and generalized myoclonic). The EEG showed generalized spike and wave activity, which was more marked after stimulation by light and became progressively worse. Neuroimaging studies were normal. In spite of treatment there was a progressive increase in visual and generalized myoclonic seizures together with deterioration of cognitive function and ataxia. Histological studies of the sweat glands showed homogeneous nodular deposits of intracytoplasmatic PAS+. Molecular studies of the EPM2A gene linked to chromosome 6q24 showed the presence of two mutations on the 1 and 4 exons. CONCLUSIONS: We describe a 12 year old patient with all the clinical features of Lafora type progressive myoclonic epilepsy in whom characteristic cytoplasmic bodies were found in the sweat gland biopsy. Molecular genetic studies of the EPM2A gene confirmed diagnosis of the disorder.

Child↗

PubMedDate not supplied

Single fiber electromyography (SFEMG) in mitochondrial diseases (MD).

Conventional EMG, nerve conduction studies and SFEMG were performed in 18 patients with various phenotypes of MD. 14 cases showed findings consistent with mild myopathy, 2 patients signs of sensory-motor axonal neuropathy and 2 cases a mixture of myopathy and axonal neuropathy. Motor unit fiber density was mild increased in 8 out of 13 tested cases. Jitter was abnormal in 10 out of 18 tested patients. Jitter abnormalities were not related to myopathic or neurogenic features in the EMG study, and may be observed in muscles without clinical weakness. The results suggest the existence of neuromuscular transmission disturbances in patients with MD.

Adolescent↗

PubMedDate not supplied

Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder with a chronic progressive course. The gene, MLC1, has been localized on chromosome 22qtell and 26 different mutations have been described. We report two siblings of non-consanguineous parents who presented with characteristic features of MLC. They showed macrocephaly from the first months of life. After a short time, motor clumsiness, ataxia, seizures and psychomotor retardation were observed. During childhood, both patients had a coma that lasted several days following a minor head trauma. The eldest sister experienced a permanent deterioration of the clinical picture after the coma. Epilepsy and electroencephalographic alterations were chronic, tending to improve during adulthood. Cerebral biopsy showed normal or minor changes in the cortical grey matter, and in the white matter gliosis, increased extracellular spaces and decreased numbers of fibres with thin myelin sheets. We have followed the patients during 24 years, from the ages of 4 and 8 years to the their present ages of 28 and 32 years. Clinical and neuro-imaging follow-up showed a chronic course with more prominent progression of the white matter abnormalities than of the neurological features. A homozygous mutation of the MLC1 gene was found in both siblings. The eldest patient, 32 years-old, needs a wheel-chair but has a good contact with the family and surrounding people. The youngest, 28-years-old, shows mild ataxia, spasticity and motor clumsiness, but she is able to participate in activities of daily life.

Brain Diseases↗

PubMedDate not supplied

[Mitochondrial respiratory chain diseases. Evaluation and variability in 52 patients].

INTRODUCTION: Clinical, electrophysiological, genetic and biochemical deficiencies variability were evaluated in 52 patients diagnosed of mitochondrial respiratory chain diseases (MRCD). PATIENTS AND METHODS: 26 men and 26 women, aged 19 to 79 years, were tested by clinical examination, electrophysiological techniques, muscle biopsy and genetic and biochemical studies. RESULTS: The patients were classified into seven phenotypes: myopathy, chronic progressive external ophthalmoplegia, progressive ophthalmoplegia plus ataxia, Kearns-Sayre syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke episodes (MELAS), myoclonic encephalopathy with ragged-red fibers (MERRF), and encephalopathies. Each phenotype may begin by different ways. The electromiography showed myopathy in 39 cases and various types of neuropathy in 10. Ragged-red COX negative fibers or widespread electron microscopic abnormalities were found in 47 cases. Simple deletions, multiple deletions and three different point mutations were observed. Deficiency of complexes I, II, III and IV were found alone or in different associations. CONCLUSIONS: MRCD shows wide variations in clinical, genetic and biochemical studies. Some patients with nonspecific manifestations, mainly of central nervous system, need careful attention and to be on account of diagnostic suspicion.

Adult↗

PubMedDate not supplied

[Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients].

AIM: To show that the cerebellar ataxias described by Norman and by Jaeken (CDG1a) are the same disease. PATIENTS AND METHODS: Seven patients, five females and two males (there were two siblings pairs), who presented a severe cerebellar disease slowly progressive associated with generalized cerebellar atrophy. The sister of one of the patients of the series had been studied because of psychomotor retardation but she died at two years of age due to respiratory problems. An autopsy was carried out that showed severe cerebellar atrophy, and the histological study revealed loss of granular cells and diverse abnormalities of Purkinje's cells, especially focal swellings of 'asteroid bodies' or 'cactus like' type. This suggested to us that Norman's ataxia and CDG1a could be the same pathological entity. RESULTS: All seven patients had severe cerebellar hypoplasia-atrophy and a small brainstem. Most patients showed peripheral neuropathy with decreased motor nerve conduction velocity, but very little decreased sensory nerve conduction velocity. All seven patients had highly raised serum concentrations of asialotransferrin, and heterozygous molecular PMM2 deficit (CDG1a). One of these seven cases was the patient whose sister had histological cerebellar changes corresponding to Norman's ataxia. CONCLUSION: The findings observed in our series suggest that the diseases described by Norman and Jaeken are the same pathological entity and CDG1a can be the biological basis of the histological changes of the cerebellum in Norman's ataxia. We suggest the name of Norman-Jaeken ataxia or disease for this entity.

Adolescent↗