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Biomedical subjects

J M Prats Viñas

Publications and source records attributed to J M Prats Viñas.

At least 19 recordsLinked to original sources
PubMed2006

Postencephalitic chronic granulomatous disease.

This report details the evolution of a case of herpes simplex encephalitis to chronic granuloma in a 13-year old female who, at the age of 8, suffered herpes simplex virus type 1 encephalitis. Eight months later, she developed an intracranial hypertension syndrome with the onset of a new lesion in the necrosed zone of her right temporal lobe, with no viral presence in the cerebrospinal fluid. The histologic characteristics were those of chronic granuloma with multinucleated giant cells and calcifications. Initially treated for neurosarcoidosis, the patient remained steroid-dependent for 4 years and the steroids could only be withdrawn by treatment with Infliximab. This type of evolutive pattern has probably been completely overlooked until now; it can only be accurately diagnosed by biopsy. It was initially mistaken for neurosarcoidosis.

Adolescent↗
PubMed2005

[Infantile spasms as the first manifestation of propionic acidemia].

Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset, who at 6 months presented bursts of infantile spasms and a hypsarrhythmic electroencephalogram. He was treated with vigabatrin. At 8 months magnetic resonance imaging showed a wider than normal subarachnoidal space, and hyperintense thalamus, globus pallidus and subthalamic nucleus. Biochemical and genetic analysis confirmed propionic acidemia. Specific therapy was started and the patient is not currently under anti-epileptic treatment and his electroencephalogram is normal. This onset of propionic acidemia is unusual, and we believe that treatment with vigabatrin protected the basal ganglia from irreversible excitotoxic damage.

Age of Onset↗
PubMed2005

[Tuberous sclerosis associated with rhabdomyoma in the left ventricular outlet tract].

We report a 2-month old newborn with a family history of adenoma sebaceum, achromic spots and renal lithiasis. Echocardiography-magnetic resonance imaging showed a solitary pediculated rhabdomyoma in the left ventricular outlet tract causing a severe systolic aortic valve obstruction. Surgical excision was carried out through the aortic valve with no valvular lesions. The patient presented multiple seizures 24 hours after surgery with good response to medical therapy. Ten days later, computed tomography showed a spot lesion in the subependimary area in the posterior position of the parietal horn, compatible with a hamartoma associated with tuberous sclerosis.

Heart Neoplasms↗
PubMed2003

[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?].

INTRODUCTION: Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease. OBJECTIVE: Four patients who presented the disease during the first year of life are described. PATIENTS AND METHODS: The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution. CONCLUSION: Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.

Dementia, Vascular↗
PubMed2002

[Congenital myasthenic syndromes. Clinical and electromyographic evaluation].

BACKGROUND: Congenital myasthenic syndromes are the more frequent group of disorders involving neuromuscular transmission in childhood. They are characterized by hypotonia, weakness and periodic apneic spells, which can be life threatening. Further elucidation of the causes of these syndromes requires sophisticated technology, which is not available in all hospitals. OBJECTIVE: To provide evidence that clinical features and repetitive stimulation support and guide the correct diagnosis in the absence of invasive techniques. METHODS: All the patients diagnosed with congenital myasthenic syndrome were selected. The sample consisted of four children: two with a defect in acetylcholine resynthesis and mobilization (familial infantile myasthenia), one with absence of the endplate-specific form of acetylcholinesterase and one with acetylcholine receptor deficit. The clinical and electromyographic features of these syndromes are described in detail. CONCLUSIONS: Clinical phenotypes and repetitive stimulation can be used to classify the most common myasthenic syndromes and to avoid more aggressive techniques, predict potentially life threatening respiratory exacerbations and avoid iatrogenic effects. They can also be used in genetic counseling.

Child↗
PubMed1998

[Unilateral aplasia of the cerebellum in Aicardi's syndrome].

A case of unilateral aplasia of the cerebellum in a girl with Aicardi's syndrome is described. Aplasia of an entire hemisphere is one of the least frequent malformations of the cerebellum. Hypoplasia, partial hemispheric defects of the cerebellum and, rarely, complete absence of one hemisphere have been described in Aicardi's syndrome, which is associated with multiple systemic and CNS malformations. In our patient, who presented the characteristic trial of infantile spasms, callosal agenesia and retinal lacuna, we also saw right cerebellar aplasia along with other CNS malformations using magnetic resonance. We discuss the possibility that this aplasia arises as the result of a developmental defect of the posterior arterial system of Willis's polygon.

Cerebellum↗
PubMed1998

[Frequency and current clinical diversity of cerebral cortical dysgenesis].

OBJECTIVE: The extended use of MRI has increased the number of patients diagnosed of cortical dysgenesis and has changed the clinical spectrum usually associated with this disorder. The aim of this study was to know the frequency and clinical variety of cortical dysgenesis in our current patient population. PATIENTS AND METHODS: All patients with dysgenesis of the neocortex or of the hippocampus, according to radiological or pathological features, were selected from the total number of patients attended during 1996 at an outpatient hospital-based neuropediatric clinic. Malformations of cerebellar cortex and neurocutaneous syndrome were excluded. RESULTS: Twenty-one patients (1.3% of all patients attended at the clinic) studied by MRI showed polymicrogyria (43%) which was of perisilvian localization in three patients, heterotopias (33%), dysplasia of the hippocampus (24%), agyria-pachygria (14%) and hemimegaencephalia (5%). Three patients underwent surgical interventions. Epilepsy was present in 90%, mental retardation in 68%, cerebral palsy 47%, infantile spasms 40%, microcephally 25%, autism 10%, hyperkinesis 5% and learning disabilities in 33% of those school age children free of mental retardation. CONCLUSIONS: The actual prevalence of cortical dysgenesis at our clinic is similar to that of neurodevelopmental impairments following birth-asphyxia (1.2%), amounting to two thirds of those following prematurity and to half of those following a brain injury of late prenatal onset. Except for the almost constant presence of epilepsy, especially infantile spasms, clinical symptomatology is diverse and occurs in a similar percentages in brain lesions acquired during labour or during late pregnancy. Hyperkinesis and autism have a similar prevalence to that seen in the total number of patients attended at the clinic during 1996.

Cerebral Cortex↗
PubMed1993

[Glutaric aciduria type I].

We report three patients with glutaric aciduria type I. The biochemical diagnosis of two cases was revealed by determination of free glutaric acid in urine, by using the CG/EM method. In the third patient, however, these levels were only slightly increased and the diagnosis was attained by the determination of total glutaric acid and glutaryl-carnitine. Serum carnitine levels were decreased in two cases. Clinical symptoms of this type of organic acidemia are highlighted by an acute or subacute presentation with signs of dysfunction of the neostriatum, simulating a cerebral paralysis with extrapyramidal signs. Homozygous patients have been reported with the same biochemical and enzymatic activity findings, but these patients were neurologically asymptomatic throughout life. Other features suggestive of the disease are macrocephaly associated with a widening of the subarachnoid spaces. Riboflavin and carnitine administration to these patients seems to prevent new bouts of neurological dysfunction.

Amino Acid Metabolism, Inborn Errors↗