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Revista de neurologia 03/2009; 48(3):165-6. · 0.65 Impact Factor
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Anales de Pediatría 01/2004; 59(6):599-600. · 0.77 Impact Factor
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Anales de Pediatría 09/2003; 59(2):190-1. · 0.77 Impact Factor
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Anales espanoles de pediatria 06/1999; 50(5):501-3.
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M C Roche Herrero
Anales espanoles de pediatria 02/1999; 50(1):102.
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Anales espanoles de pediatria 12/1998; 49(5):503-6.
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ABSTRACT: The objectives of this study were to determine in our newborn population the frequency of facial asymmetry during crying or congenital hypoplasia of the depressor anguli oris muscle (DAOM) without associated major malformations and to evaluate the contribution of electrophysiological studies in the diagnosis of this anomaly.
We performed a prospective study of the living newborns with facial asymmetry which did not need to be admitted to the hospital and that were delivered without the use of forceps in our hospital during 4 consecutive years. Newborn evaluation included physical examination, facial nerve electroneurography and DAOM electromyography.
This anomaly without major malformations was present in 0.348/1,000 newborns. Electrophysiological studies demonstrated a normal latency in the facial nerve electroneurography and an absence or reduced number of motor unit potential without signs of denervation in the electromyography.
Diagnosis of this entity is important to exclude facial nerve palsy. Only a physical examination is necessary for a correct diagnosis.
Anales espanoles de pediatria 02/1998; 48(1):44-8.
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ABSTRACT: Benign neonatal convulsions, though rare, are seen with increasing frequency and are characterized by seizures during the neonatal period with favorable prognosis. Two distinct entities can be identified, based on whether the syndrome is familial or non-familial, with epilepsy developing in 14% of patients with the familial form. We report a retrospective study of 23 patients, 13 with benign familial neonatal seizures and 10 with benign idiopathic neonatal seizures. All except one had normal neurologic development. We observed central temporal (rolandic) EEG foci in the follow-up of a few patients in both groups, with no clinical manifestations. We consider the possibility that these entities may share common genetic factors with benign rolandic epilepsy.
Neurologia (Barcelona, Spain) 03/1996; 11(2):51-5. · 0.79 Impact Factor
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ABSTRACT: Eight cases of cutis marmorata telangiectatica congenita are presented and an analysis of associated alterations on seven is done. These abnormalities are mainly asymmetrical body development (hypotrophy of the leg in two cases, hemihypertrophy of body in five), hemihypertrophy of brain with psychomotor retardation in three patients, Nevus flameus on lumbar region in one and syndactylies on hands and feet in one. Inclusion of the disease into neurocutaneous syndromes is suggested and is emphasized the importance of the pediatric and neurological follow-up of these patients.
Anales espanoles de pediatria 07/1985; 22(8):575-80.
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ABSTRACT: A 25 months old male with herpes simplex virus encephalitis is presented. After analizing the diagnostic value of several parameters, the E. E. G. findings during the first days of the illness are specially emphasized. Results obtained until now with every type of therapy are reviewed.
Anales espanoles de pediatria 07/1980; 13(6):537-40.
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ABSTRACT: Twenty two infants, 13 females and nine males, with Sturge-Weber syndrome are reviewed. Facial "nevus flammeus" is found to be located unilaterally in 13 cases and bilaterally in nine cases. Twenty infants presented seizures with generalized type being most frequent. E.E.G. alterations appeared in 18 cases. The I.Q. was normal in five infants although somewhat lower than the inferior limits of a normal I.Q. range. The major radiological alterations seen were an increased thickness of the skull cap; intracranial calcification (11 cases), unilateral in eight and bilateral in three; cerebral hemiatrophy (10 cases), arterial and venous hypoplasia and tortuosity in the entire extension of the carotid artery. One of the infants died with no apparent cause. This death cannot be attributed to the orignal syndrome. Computerized tomography offers early adequate data concerning the intracranial calcifications and cerebral hemiatrophy. Based on this study there does not seem to be sufficient motives to separate the Sturge-Weber and the Klippel-Trenaunay syndromes into two different entities.
Anales espanoles de pediatria 05/1978; 11(4):281-94.
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ABSTRACT: Two cases of Gangliosidosis GM1 are presented. They are a child who showed psychomotor backward and generalized osteoporosis, died at 16 months, and a girl studied because of psychomotor backward when she was less than a year. This girl showed radiological vertebrae alterations similar to mucopolysaccharidosis and died when she was 7 years old. The enzymatic determinations in serum and cultured fibroblasts showed beta-galactosidase deficiency in both cases. Important storage of cerebral gangliosides with increase of the percentage of GM1 was also found in both cases. Histological alterations were found in some other organs besides the brain.
Anales espanoles de pediatria 05/1977; 10(4):405-12.
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Revista de neurologia 46(12):766-7. · 0.65 Impact Factor
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ABSTRACT: To conduct a retrospective study of cases of congenital brachial palsy, focusing on its incidence, clinical manifestations and long-term course.
A systematized study of all the cases of congenital brachial palsy detected in the Hospital La Paz between January 1994 and December 2003 was carried out with the aim of recording data on the pregnancy, gestational age, type of delivery, presentation, sex and weight at birth, Apgar test and the arterial pH of the umbilical cord. It also sought to estimate the type of brachial palsy, the side that was affected, electromyographic findings, associated insults, treatment and progress.
Congenital brachial palsy was diagnosed in 48 patients. All the children, except one, were born full term and in over half the cases (54.1%) weight at birth was above average. In 43 cases presentation was cephalic and in the other 5 it was footling. Twenty-nine cases (60.5%) were classified as mild, 12 were moderate (25%) and 7 were severe (14.5%). Electromyogram studies were carried out in 19 patients (39.5%) and the following insults were found: severe axonotmesis in the 7 severe patients, moderate axonotmesis in the 10 moderate patients, and neuroapraxia and mild axonotmesis in the 2 mild patients.
The incidence of congenital brachial palsy in our hospital was 0.6 cases/1000 births/year. Proximal brachial palsy was the commonest disorder, although in most cases patients were only mildly affected and were free of sequelae when discharged. Functional limitations persisted, however, in 36.6% of the cases despite treatment being established at an early stage.
Revista de neurologia 46(12):719-23. · 0.65 Impact Factor
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Revista de neurologia 45(12):764-5. · 0.65 Impact Factor
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ABSTRACT: Spinal cord injuries in newborn infants following a traumatic delivery are well known, but occasionally cord damage is appreciated in children whose birth did not involve any complications; in some of them there has been proof of an ischemic process that originated inside the uterus.
We describe the case of a newborn female with atrophy of the cervical spinal cord compatible with an intrauterine ischemic infarct. It extended to the C4-C6 territory of the anterior spinal artery, with greater participation on the left side. Clinical symptoms were apparent from the moment of birth and took the form of an asymmetric pseudoarthrogryposis in the upper limbs. The left arm was held in abduction at the height of the shoulder, with complete flexion of the elbow and the hand at the height of the chin was hypotonic, inactive and hypotrophic; the right arm was extended and in adduction. The patient presented episodes of hyperthermia that remitted on cooling the body.
When faced with a newborn infant with symptoms that are compatible with chronic cervical spinal cord damage and in the absence of any perinatal traumatic injury, other causes, including prenatal ischemic infarct, must be taken into account.
Revista de neurologia 39(10):932-4. · 0.65 Impact Factor
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ABSTRACT: Severe myoclonic epilepsy in infancy (SMEI), or Dravet s syndrome, is one of the most serious forms of epilepsy in infancy. In this study we analyse the clinical characteristics of the process.
The cases reported in the literature are surveyed, together with a personal casuistic, from both a clinical and paraclinical point of view, and we assess the form of onset and the clinical, EEG and neuroimaging manifestations at different ages.
In most cases the disorder is characterised by onset during the first year of life, with febrile seizures, normal development prior to the onset of the seizures, multivariate critical phenomenology throughout the progression, early resistance to treatment, initial normality of EEG results and progressive neurological deterioration with ataxia and long tract signs.
The diagnosis of SMEI depends on the combination of clinical manifestations and EEG at different ages, and the presence of myoclonic seizures constitutes the most significant fact. The lack of strict diagnostic criteria allows for the existence of cases that are not perfectly identified. A percentage of cases exist that do not fulfil all the abovementioned criteria. The recent description of a mutation in the alpha subunit of a neuronal voltage dependent sodium channel (SCN1A) in chromosome 2q24, as the likely source of the process, will allow screening to be carried out in the early phases of the disorder. It will also allow studies to be conducted on the phenotype genotype correlation of the disease.
Revista de neurologia 37(1):55-9. · 0.65 Impact Factor
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ABSTRACT: Headache is the commonest clinical symptom during childhood and adolescence, from a neurologist s point of view. The pathophysiology of migraine and tension headache involve personality and biochemical factors, such as serotonin, which are also common in coeliac disease.
To establish the prevalence of headache in children and adolescents with coeliac disease, and any possible relation between these conditions.
We made a randomized selection of 86 patients with coeliac disease. All were on gluten-free diets and had no current gastroenterological symptoms. They had direct interviews and full physical and neurological examinations. The diagnosis of headache was based on criteria of the International Headache Society in 1988.
The average age was 12.71 +/- 4.5 years (range 5-24). Headache occurred in 34 (39.5%) of the 86 patients studied. In 18 cases (20.9%) headache was of tension type and in 16 (18.6%) of migraine type. Of the latter, 10 cases had auras and 6 did not. There was no significant sex difference.
An increased prevalence of both migraine and tension headaches was observed in the coeliac patients studied as compared with data published in the literature. In the former patients there was also a lower frequency in histories of migraine in first degree family members. This data is probably related to the personality of the patient or to his family or social circumstances in the case of tension headaches. In the case of migraine it may be due to biochemical factors such as a lowered plasma serotonin, seen both in coeliac disease and in migraine.
Revista de neurologia 32(4):301-9. · 0.65 Impact Factor
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ABSTRACT: Six patients with congenital giant or multiple melanocytic nevi are studied retrospectively. The clinical, electroencephalographic and neuro-imaging findings for the four patients with neurocutaneous melanosis are described. The other two patients had only cutaneous melanosis. Three of the four with neurocutaneous alterations suffered seizures with flexion spasms and one had partial seizures. The seizures were treated and brought under control in three cases, whereas in the fourth untreated patient, only a single seizure was seen. Three patients have developed with lower intelligence levels and attention deficit syndrome. The other, whose intelligence is normal, suffers mild left hemiparesis secondary to porencephaly. None has developed hydrocephalus or symptoms of intracranial hypertension at the stages of follow-up reported, with ages ranging from 5 and 12 years. Contrary to previous reports, we found that the survival prognosis for patients with neurological involvement is favorable after a minimum follow-up of 5 years.
Neurologia (Barcelona, Spain) 12(7):287-92. · 0.79 Impact Factor
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ABSTRACT: Benign childhood paroxysmal eye deviation (BCPED) is classified as a 'non-epileptic paroxysmal disorder'.
We report the cases of four patients aged between 6 months and 2 years, who suffered brief episodes of upward conjugate gaze deviation, with no clonic movements or associated cognitive deterioration. These episodes, which lasted several seconds, appeared in short repeated bouts that became worse with fatigue. Results of the neurological exploration, laboratory examinations, neuroimaging (CAT, MRI, brain ultrasonography) and a neurophysiological study, which included EEG-video monitoring and EEG performed during the waking state, were all normal. A nocturnal polysomnographic study was later conducted for 7-8 hours and EEG, EMG and EOG readings were recorded. The trace showed focal or generalised paroxysmal discharges during non-REM sleep in the form of polyspike-wave and spike-wave complexes. Sleep analysis (Reschstaffen and Kales) showed only a shortened REM sleep latency, with no clear clinical meaning. Several cases have been reported in the literature with identical symptoms and normal results in the diagnostic tests, including daytime polysomnography.
The appearance of these epileptic anomalies in the nocturnal study makes it necessary to perform a complete nocturnal polysomnography. In spite of these findings, BCPED courses favourably and has a benign prognosis both with and without antiepileptic treatment. We therefore believe that BCPED should be classed within the group of 'benign idiopathic epilepsies of childhood'.
Revista de neurologia 39(2):129-32. · 0.65 Impact Factor
