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J M Pardal-Fernández

Publications and source records attributed to J M Pardal-Fernández.

10 recordsLinked to original sources
PubMed2004

Rett syndrome: a case presenting with atypical seizures. Neurophysiological and clinical aspects.

OBJECTIVE: To describe a specific electroclinical type of epileptic seizure in a patient with Rett syndrome. PATIENT AND METHODS: We present the case of a girl with Rett syndrome and epilepsy, whose seizures followed two differentiated phases, namely (a) a brief hypertonic onset with tonic-axial predominance, followed by (b) a posterior prolonged clinical absence. These two phases were associated, respectively, to a paroxystic desynchronisation or generalised rapid spikes discharges, followed by a critical slow activity. CONCLUSIONS: The epileptic seizures described in this report have not been previously documented in Rett syndrome. We review and discuss pathophysiological hypotheses in the light of this and previously reported cases of the syndrome.

Anticonvulsants↗
PubMedDate not supplied

[Peripheral facial paralysis. The value of clinical neurophysiology].

AIMS: The aim of this study was to review the value of neurophysiological exploration in peripheral facial paralysis in the literature and in our own experience. METHOD: Peripheral facial paralysis is a frequently occurring cranial neuropathy with an acute presentation. Its striking clinical expression is usually in strong contrast to its benign prognosis, except for a small percentage of cases in which the existence of acute injury to the nerve (axonotmesis) will cause it to progress unfavourably, either due to the absence of nerve regeneration or because this is inadequate or insufficient. A neurophysiological study aids diagnosis and the functional and prognostic assessment. CONCLUSIONS: We recommend the utilisation of standardised studies involving a comprehensive electromyographic and electroneurographic evaluation of the facial territory, including reflexology (blink reflex). Use of a suitable methodology in the neurophysiological study of this neuropathy will allow us to complete the diagnosis and to evaluate progress, even from very early days (early surgical approach prior to the onset of nerve degeneration), all of which is decisive in the prognosis of injury throughout the process.

Blinking↗
PubMedDate not supplied

Bilateral sacral radiculopathy in a cyclist.

UNLABELLED: OBJECTIVE-PURPOSE: The purpose of this case report is to describe a gait disorder presenting as a bilateral sacral radiculopathy after vigorous cycling. Also, we discuss the pathogenic mechanisms and we revise the bibliography. PATIENT AND METHODS: The patient complained of a rapid painless weakness in legs, after intense and prolonged cycling 4 months ago. The physical and electromyographical examinations revealed important weakness in foot and knee flexors, and signs of acute denervation with mixed reinnervation (active and chronic) in myotomal S1 muscles, respectively. The lumbo-sacral magnetic resonance imaging were normal. The follow-up studies demonstrated gradually improvement in clinical and neurophysiological parameters. DISCUSSION: We established that our patient presented a subacute bilateral S1 radiculopathy and we confirmed the progressive clinical and neurophysiological improvement. The radiculopathy are infrequent in cyclists, and its common origin is the external compressive aggression. In our patient we speculate and discuss that this radicular lesion could present different pathogenic mechanisms: the elongation, the compression and the secondary vasanervorum ischemia. In our knowledge S1 radiculopathy related to compressive lesions in sportsmen has not been previously described.

Adult↗
PubMedDate not supplied

Tibial muscular dystrophy with late adult onset in a Spanish family.

PURPOSE: We report autosomal dominant distal muscular dystrophy in 5 members of a Spanish family. INTRODUCTION: This unusual muscular disorder has late adult onset and predominantly it affects the anterior compartment of the legs. This myopathy presented clinical and electromyographical characteristics, but unspecific histological findings. Early there have appeared genetical studies, the most frequently used is chromosome linkage, but it is not an absolute criterion for diagnosis, and it is not available in most hospitals. PATIENTS DESCRIPTIONS: In our cases walking difficulties appeared between the fourth and fifth decades, characterized by progressive and varied weakness with amyotrophy in the tibial anterior compartment. The electromyography confirmed the presence of a severe non-inflammatory myopathy, chronic and symmetric in the pretibial muscles and of less intensity in the calf muscles. The levels of creatine phosphokinase were normal and muscle biopsy identified a chronic, unspecific lesion with important fibrosis. CONCLUSIONS: The findings, although with some phenotypical differences, were those commonly found in Markesbery-Griggs disease, tibial muscular dystrophy or late onset type 2 distal myopathy. We report a family affected by this muscular disorder, we describe the differential diagnosis and we discuss the review of the available literature.

Adult↗
PubMedDate not supplied

[Chronic relapsing axonal neuropathy. A case report].

INTRODUCTION: Polyneuropathies (PNP) result from damage to a number of nerves. They are classified according to the anatomical-functional, histological, aetiological and genetic characteristics. Here we report on the prolonged follow-up carried out on an adult male who had a chronic recurring axonal-type PNP. CASE REPORT: We describe the case of a 65-year-old male who presented episodes of neurological deficit over a period of 10 years that were interspersed with prolonged, stable periods in which he was free of new symptoms. The patient's functional limitations became greater with each successive relapse and the situation is now one of extreme disability. The characteristics of the clinical picture pointed towards a diffuse peripheral nerve disorder, and the neurophysiological studies carried out revealed polyneuropathic, sensory and motor injury mediated by an axonal mechanism with no associated demyelination. A comprehensive analytical, imaging and functional study was conducted, but did not reveal any specific causes. The particular clinical process, the exclusion of other pathologies and the electrophysiological findings allowed us to reach a diagnosis of recurring or episodic chronic primary axonal PNP. CONCLUSIONS: This description can be added to the few cases reported in the literature. As we see it, this is an unusual, although probably underdiagnosed, disease and it must be taken into account in the differential diagnosis of chronic recurring PNP because of the diagnostic implications and--with respect to its usually poor response to therapy--due to the prognoses.

Aged↗
PubMedDate not supplied

[Embryopathy due to valproic acid with severe malformations in the central nervous system].

INTRODUCTION: Embryogenetic disorders are one of the most serious problems in the life of an epileptic. Over the last few decades many antiepileptic drugs, including valproic acid, have been shown to have teratogenic properties. Embryopathy due to valproate, also known as fetal valproate syndrome, is a well-known and documented example of these conditions. CASE REPORT: We report the case of a preterm newborn infant who, at birth, exhibited a syndrome characterised by facial dysmorphia, gingival hyperplasia, neurological hyperexcitability and multiple malformations, the most striking of which was the presence of predominantly temporal atrophy in the left brain hemisphere. The most significant event in the medical history of the case was the mother's taking valproate in monotherapy throughout the entire period of gestation as treatment for generalised idiopathic epilepsy that was diagnosed during adolescence. Screening precluded the most common metabolic, hereditary or infectious causes that can cause embryopathies. CONCLUSIONS: The mother's history of taking valproic acid and the specific findings that coincided in the peculiar embryopathy of this patient enabled us to link them.

Abnormalities, Drug-Induced↗