Cortical Blindness in a Child Secondary to Mycoplasma pneumoniae Infection.

Our objective is to present a case of an uncommon complication associated with Mycoplasma pneumoniae infection in a child where cortical blindness was the main clinical feature. Stroke due to an infection by M. pneumoniae is very uncommon. No consensus has been reached on the pathogenesis, although several pathogenic mechanisms have been proposed. Occlusion of posterior cerebral circulation is the most uncommon central nervous system complication of M. pneumoniae infection being reported. Symptoms are usually hemiplegia and dysarthria. We report a case of a 6-year-old boy who suffered cortical blindness due to a stroke 2 days after M. pneumoniae infection. This is the first case of documented cortical blindness due to posterior cerebral arteries occlusion in children after M. pneumoniae infection.

[Narcolepsy with and without cataplexy: an uncommon disabling and unrecognized disease]. / Narcolepsia con y sin cataplejia: una enfermedad rara, limitante e infradiagnosticada.

Although narcolepsy is a relatively uncommon condition, its impact on a child's life can be dramatic and disabling. Narcolepsy is characterized by excessive daytime sleepiness (EDS), with brief "sleep attacks" at very unusual times and usually associated with cataplexy (sudden loss of muscle control while awake, resulting in a fall, triggered by laughter). Other symptoms frequently reported are sleep paralysis (feeling of being unable to move or speak, even totally aware), hypnagogic hallucinations (vivid dreamlike experiences difficult to distinguish from reality) or disturbed night time sleep. Some children also experience depression or overweight-obesity. Although narcolepsy has been thoroughly studied, the exact cause is unknown. It appears to be a disorder of cerebral pathways that control sleep and wakefulness, involving dorsolateral hypothalamus and hypocretin. A genetic factor has been suggested, but narcolepsy in relatives is rare. Researchers have suggested that a set of genes combines with additional factors in a person's life to cause narcolepsy. The effective treatment of narcolepsy requires not only medication (usually stimulants, antidepressants and sodium oxybate), but also adjustments in life-style (scheduled naps). Management of this condition in children demands a comprehensive approach to the patient, that includes a correct diagnosis, pharmacological and non-pharmacological treatment and adjustments in the environment. These strategies can improve the child's self-esteem and ability to obtain a good education.

[Benign myoclonic epilepsy -a curious case report]. / Epilepsia mioclónica benigna del lactante: un caso curioso.

INTRODUCTION: Benign myoclonic epilepsy in infants is a rare condition that belongs to the group of epilepsies and generalised epileptic syndromes. Doubts have recently arisen as to whether it is really benign, with some reports of cases of compromised psychomotor development when therapy is started late. The differential diagnosis can be associated with epileptic and non-epileptic diseases, and it is important to preclude it from the former due to their severity. Lombroso and Fejerman's benign myocloni are the non-epileptic diseases that create most problems as far as the differential diagnosis is concerned. Congenital defects of the cranial vault are quite rare and are sometimes associated with other malformations. Exceptionally they appear in isolation, and familial cases have been reported. CASE REPORT: Here we describe the case of a female infant, who had been subject to a follow-up in the Children's Neurology department from the age of 7 months and who had been diagnosed as suffering from unspecific bone erosion of the cranial vault and benign myoclonic epilepsy in infants. Psychomotor development has taken place within the range of parameters that can be considered to be normal and the patient is currently 25 months old. CONCLUSIONS: From the clinical point of view, in this case we can rule out the most severe epileptic situations. This is a clinical case that is atypical, not only because of the coexistence of two rare diagnoses, but also due to the clinical features and electroencephalographic manifestations. Both situations are very uncommon and there is no apparent relationship between them.

[Neuropsychological alterations are frequent in rolandic epilepsy and its atypical developments]. / Las alteraciones neuropsicologicas son frecuentes en la epilepsia rolandica y sus evoluciones atipicas.

INTRODUCTION: Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes is called benign because its seizures are usually favourable and due to the spontaneous normalisation of the electroencephalogram on reaching puberty. Nevertheless, evidence has been found of the impact on cognitive development with the presence of heterogeneous cognitive deficits, especially related to persistent intercritical discharges during non-REM sleep. The aim of this study is to examine the epileptogenic networks involved in the neuropsychological disorders of this pathology. DEVELOPMENT: A common feature of the atypical developments is persistent epileptic activity during slow sleep, which plays an important role in the development of the neurocognitive deficits that are associated to this pathology. Factors such as the age at onset of the epilepsy, the onset of the atypical development, the location of the interictal discharges and the continuous epileptic activity during sleep that persists for more than two years can trigger changes in the functioning of the neurocognitive networks. This may result in deficits in the neuropsychological functions, which may even be irreversible. CONCLUSIONS: A close clinical and electroencephalographic follow-up is necessary. Moreover, formal neuropsychological studies must be conducted as of the onset of benign childhood epilepsy with centrotemporal spikes. This is even more necessary in cases in which there is an obvious atypical development in order to detect and prevent the neuropsychological deficits before they establish themselves on a definitive basis.

TITLE: Las alteraciones neuropsicologicas son frecuentes en la epilepsia rolandica y sus evoluciones atipicas.Introduccion. La epilepsia rolandica o epilepsia benigna de la infancia con puntas centrotemporales se denomina benigna debido a lo favorables que suelen ser sus crisis y a la espontanea normalizacion del electroencefalograma al llegar a la pubertad, aunque se ha demostrado el impacto sobre el desarrollo cognitivo con la presencia de deficits cognitivos heterogeneos, relacionados especialmente con las descargas intercriticas persistentes durante el sueño no REM. El objetivo de este trabajo es estudiar las redes epileptogenas involucradas en los trastornos neuropsicologicos de esta patologia. Desarrollo. Las evoluciones atipicas tienen en comun una actividad epileptica persistente durante el sueño lento, que desempeña un papel importante en el desarrollo de los deficits neurocognitivos que se asocian a esta patologia. Factores como la edad de inicio de la epilepsia, el inicio de la evolucion atipica, la localizacion de las descargas interictales y la actividad epileptica continua durante el sueño que persista durante mas de dos años pueden provocar cambios en el funcionamiento de las redes neurocognitivas, con los consecuentes deficits en las funciones neuropsicologicas, que incluso pueden resultar irreversibles. Conclusiones. Es necesario un seguimiento cercano tanto clinico como electroencefalografico; ademas, deben realizarse estudios neuropsicologicos formales desde el inicio de la epilepsia benigna de la infancia con puntas centrotemporales y mas en los casos que es evidente una evolucion atipica para detectar y prevenir los deficits neuropsicologicos antes de que se instauren definitivamente.

[Breath-holding spell or epileptic seizure? A description of three girls with epileptic seizures triggered by anoxia]. / ¿Espasmo del sollozo prolongado o crisis epiléptica?: descripción de tres niñas con crisis epilépticas desencadenadas por anoxia.

TITLE: ¿Espasmo del sollozo prolongado o crisis epiléptica?: descripción de tres niñas con crisis epilépticas desencadenadas por anoxia.

Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome.

PURPOSE: To describe the vascular and nonvascular intracranial and extracranial anomalies associated with hemangiomas and vascular malformations of the face, neck, and/or chest. METHODS: Seventeen patients had a physical examination and imaging studies consisting of one or more of the following: pneumoencephalography, conventional carotid and vertebral arteriography, CT, MR imaging, and MR angiography. RESULTS: Conventional arteriography revealed persistence of the trigeminal artery in 5 cases, absence of internal or external carotid and/or vertebral arteries in 11 cases, persistence of intervertebral arteries in 1 case, deformities of the aortic arch in 3 cases, and anomalies of the intracranial arteries in 3 cases. MR angiography revealed persistence of the trigeminal artery in 1 case in which conventional arteriography failed to show the malformation, and permitted visualization of narrowing of the intracranial arteries. CT and MR imaging showed a cerebellar anomaly in 8 cases and cerebral cortical dysplasia with cerebral hemispheric hypoplasia in 1 case. Vascular and nonvascular anomalies appeared ipsilateral to the external vascular abnormalities in most cases. CONCLUSION: This study demonstrates the association of cutaneous angiomas with anomalies affecting intracranial and extracranial arteries, the cerebellum, and, less frequently, the cerebral hemispheres and aortic arch. This association constitutes a relatively frequent neurocutaneous disorder, which we call the cutaneous hemangioma-vascular complex syndrome.

Is cerebral arteritis the cause of the Landau-Kleffner syndrome? Four cases in childhood with angiographic study.

Four children with Landau-Kleffner syndrome were studied over a six year period. They presented with acquired aphasia, epilepsy, and focal or generalized EEG discharges which were exacerbated during sleep. In addition, cerebral angiography demonstrated isolated arteritis of some branches of the carotid arteries in all cases. Computed tomographic and magnetic resonance images were normal. Nicardipine in a dose of 1 to 2 mg/kg/day, added to conventional anticonvulsant drugs provided effective supplementary control of seizures, of paroxysmal EEG discharges, and of language and behavioural disturbances, even several years after the onset of the disorder and in patients whose response to other medications, including steroids, had been poor. Interruption of nicardipine administration was followed by relapse of the language disorder. Repeat angiography was performed in all four patients and showed recanalization of obstructed vessels in two cases. Focal cerebral vasculitis may be the pathogenesis of the Landau-Kleffner syndrome and calcium channel blockers such as nicardipine may be effective and specific therapy.

Hypomelanosis of ITO. A study of 76 infantile cases.

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view. Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.

Flaccid paraplegia as complication of umbilical artery catheterization.

Two patients are described who acquired neonatal flaccid paraplegia associated with umbilical artery catheterization. Neurophysiologic studies demonstrated spinal cord injury at the level of T7 and below in Patient 1 and at the level of L1 and below in Patient 2. Deferred spinal cord magnetic resonance imaging confirmed regional spinal cord atrophy. In Patient 1, the syndrome was presumed to be triggered by a spasm or embolism of the Adamkiewicz artery due to movement of the umbilical artery catheter. In Patient 2, the spinal cord ischemia was probably caused by an embolic mechanism.

[Basic principles of epidemiological studies of epilepsy]. / Principios básicos para estudios epidemiológicos en epilepsia.

OBJECTIVE: Until recently there were few epidemiological studies of epilepsy. This was probably due to lack of knowledge of concepts of epidemiology and lack of common criteria for the design of investigations. Fortunately, in recent years many studies have been published in both developed and undeveloped countries, in different age groups and dealing with all aspects of epilepsy. We wish to describe the main concepts of neuroepidemiology and methods of epidemiological measurements as applied to epilepsy. DEVELOPMENT: We describe the criteria for planning an epidemiological study including concept of the problem, selection of the model and methods and finally treatment of the data and interpretation of the results. We analyze the sample being studied and its variables. We define the concepts of clinical trial, field trial, transverse studies, sampling, study of cohorts, case control, metanalysis, sensitivity and specificity of a test. We quote the definitions and basic criteria of the International League against Epilepsy when beginning an epidemiological study of epilepsy. Finally, we review the most recent epidemiological studies, with particular emphasis on those carried out in our setting. CONCLUSIONS: Epidemiological studies are fundamental to the establishment of conclusions and advances in the investigation of epilepsy. The support of an epidemiologist is essential.

[Diagnosis and intervention of disability-causing neonatological risk factors]. / Diagnóstico e intervención de los factores neonatológicos de riesgo causantes de discapacidad.

INTRODUCTION: Early care attempts to offer children with, or at risk of suffering from, development disorders a series of optimising compensatory actions that help them to mature properly in all spheres, thus allowing them to reach a maximum level of personal development and social integration. In this study we review the main instruments used for the diagnosis and prevention of neurological disabilities during the pre-and post-natal period. DEVELOPMENT: In this field, neuropaediatrics intervenes in a joint, coordinated fashion with neonatology in the detection, diagnosis and therapeutic care of the new-born. The progress made in diagnostic techniques allows the early detection of anomalies that are associated with disability. Neuroimaging (transfontanellar echography, computerised tomography (CAT), magnetic resonance imaging, brain SPECT), genetic and molecular genetics studies, metabolic neonatal and infection screening, neurophysiological techniques and so on will enable earlier and more sensitive diagnoses to be made. In addition, throughout the neonatal period the obstetrician has the enormous responsibility of diagnosing many processes that can be subsidiary to a future disability. CONCLUSIONS: We believe that close collaboration between the obstetrician, neonatologist and neuropaediatrician will enable the detection and prevention of risk factors that can lead to a neurological disability. It is also the neuropaediatrician's duty to take part in programmes to monitor the development of children with a biopsychosocial risk, as well as participating in the detection of warning signs and in the diagnosis of neurological disorders.

[Neuropsychological changes in coeliac disease]. / Alteraciones neuropsicológicas en la enfermedad celíaca.

OBJECTIVE: Coeliac disease is a gastrointestinal disorder caused by intolerance to cereals due to an immunological mechanism. The intestinal mucosa is damaged, causing a severe malabsorption syndrome. The diagnosis is based on classical clinical features such as diarrhoea and weight loss. However, there is a broad spectrum of this disorder which includes disorders of other organs and systems. In this paper we review the main studies of involvement of the nervous system in coeliac disease. DEVELOPMENT: Studies published to date report a high prevalence of ataxia, headaches and epilepsy, especially associated with bilateral occipital calcifications together with psychological features and psychiatric disorders including behavior change, depression, schizophrenia, autism, and disorders of personality, emotion and family relationships. Problems of learning and cognition are less common. CONCLUSIONS: Many of these processes have only relatively recently been recognized. The pathogenic mechanism of these disorders is not completely clear although biochemical factors such as a low plasma serotonin level may be a cause. Treatment is based on the early recognition of the disorder which is difficult to suspect when there are no gastrointestinal symptoms present and the use of various types of treatment, including a cereal free diet, which is the most effective.

[Severe myoclonic epilepsy in infancy. Clinical and paraclinical aspects]. / Epilepsia mioclónica severa de la infancia. Aspectos clínicos y paraclínicos.

INTRODUCTION: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

[Neonatal EEG trace of burst suppression. Etiological and evolutionary factors]. / Trazado EEG neonatal de salva supresión. Factores etiológicos y evolutivos.

INTRODUCTION: The electroencephalographic (EEG) trace seen during the neonatal period which shows so called discharges of burst suppression, is caused by a severe disorder of cerebral electrogenesis occurring at this time. OBJECTIVE: To determine the aetiology, clinical significance and evolution of a group of newborn babies with this type of EEG trace. PATIENTS AND METHODS: We made a retrospective study of fullterm babies in whom burst suppression EEG recordings had been obtained during the neonatal period. RESULTS: We studied 34 patients. In 14 cases the trace was associated with hypoxic ischemic encephalopathy; 4 with meningitis; another 4 with early infantile epileptic encephalopathy (Ohtahara syndrome); 4 cases were attributed to drugs (4 with fentanyl associated in one case with phenobarbitone and in another with midazolam); 2 cases were due to early myoclonic epilepsy; 3 to multiple organ failure; one to non ketotic hyperglycinemia and another to leucinosis. In one patient the aetiology could not be determined. Seven patients died before the age of 6 months. Severe neurological sequelae were seen in all the others except for four cases (3 treated with fentanyl and one case with hypoxic ischemic encephalopathy). CONCLUSIONS: The presence of a burst suppression EEG trace in a neonate makes extensive study to determine the aetiology necessary. Although associated with a worse prognosis, those not treated with piperidine derivatives should be classified separately. Those treated with piperidine derivatives have a good prognosis.

[Subdural effusion in type B Haemophilus influenzae meningitis. A study of 38 cases]. / Derrame subdural en la meningitis por Haemophilus influenzae tipo B. Estudio de 38 casos.

OBJECTIVE: Studying clinical, laboratory and radiologic findings, as well as outcome, observed in patients with meningitis caused by Hib, and its relationship with subdural effusion. MATERIAL AND METHODS: Retrospective study of 38 meningitis caused by Hib. Patients were aged between 3 months and 5 years. Imaging was performed in 26 cases (68%): CT in 21 children (55%) and cranial sonography in 11 cases (29%). EEG was made in 29 patients (76%) and auditory-evoked potentials in 13 (34%). The mean follow-up period after discharge was 24 months. RESULTS: Sixty-six per cent were male and 34% female. Eight cases had subdural effusion. These patients showed higher white cell counts in blood and CSF, higher levels of proteins in CSF, and lower levels of glucose in the same medium. They also had seizures before or during hospitalization, with higher frequency than those without subdural effusion (50% vs 26%) as well as more prolonged fever (127 vs 73 hours). No specific treatment was required in any case. CONCLUSIONS: Subdural effusion is one of the most frequent complications observed in meningitis. Patients frequently present more important clinical and laboratory alterations. This finding is not related with neurologic sequelae and they resolve spontaneously with time.

[Munchausen syndrome by proxy: report of one case with epilepsy]. / Síndrome de Munchausen por poderes: presentación de un caso con epilepsia.

INTRODUCTION: Munchausen syndrome by proxy (MSBP) is a rare form of child abuse in which a parent, usually the mother, fabricates or produces illness in a child, so causing them unnecessary medical investigations, treatments and hospitalizations. One of the commonest false presenting symptom is 'seizures'. CLINICAL CASE: An eight years old boy with Munchausen syndrome by proxy is reported. This child had had genuine seizures well controlled by standard anticonvulsant treatment at the start of the false illness. At the age of seven years, the patient showed very frequent seizures. The child was treated with antiepileptic drugs, but treatments were ineffective and seizures continued. Results of multiple tests, including an extensive blood chemistry analyses, CT, MRI, SPECT, were normal. Electroencephalogram showed posterior slow waves. Acute neurological deterioration was observed six weeks after hospitalization and it was finally proved that seizures were caused or triggered by clomipramine poisoning given by her mother. CONCLUSIONS: MSBP frequently presents as epileptic seizures in these abused children. MSBP diagnosis is more difficult to be made if true seizures exists with multiple fictitious seizures. Pediatrician should be alerted to the possibility of MSBP when seizures are poorly controlled, treatments are ineffective and there is no neurophysiologic dysfunction. Early diagnosis and intervention are essential because high mortality and psychologic morbidity are associated with this syndrome.

[Joubert syndrome: a report of 5 cases]. / Síndrome de Joubert: presentación de cinco casos.

OBJECTIVE: To review clinical features, radiological findings and prognosis in Joubert syndrome. MATERIAL AND METHODS: We report 5 children (3 male and 2 female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Paz (Madrid, Spain), from 1971 to 1996. Three patients have already been published, and here, we report two new cases. RESULTS: Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died in the first 5 years of life, and the rest of the cases actually show severe mental retardation. CONCLUSIONS: Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hypotonia, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described.

[About protocols, regulations and guidelines in clinical practice. Spanish Society of Pediatric Neurology]. / Sobre protocolos, pautas y guías de la práctica clínica. Sociedad Española de Neurología Pediátrica.

OBJECTIVE: In order to increase the awareness and perception of guidelines as a helpful tool in clinical practice, a description of its main features, foundations and social context is provided. DEVELOPMENT: Protocols, algorithms and guidelines are defined as instruments to improve patient care without interfering with the clinician's criteria regarding a particular patient. They are supported by the Evidence Based Medicine, and its development follows precise rules. Guidelines are the product of high quality research, made public through Medline, research that is previously evaluated in a specified manner. The level of evidence determines the strength of the recommendation. The effects of guidelines on the health status of patients are one of the subjects of the outcomes assessment methodology. They have some limitations but they contribute to avoid arbitrary practice and to reduce practice variability among professionals. Their contribution to the present health system management and to optimized resources utilization is decisive. CONCLUSIONS: At present, clinical, scientific and management practices are closely related. Guidelines have a role in the three aspects of the Health System.

[Schilder's diffuse myelinoclastic sclerosis]. / Esclerosis mielinoclástica difusa de Schilder.

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.

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies]. / Enfermedad de Lafora. Confirmación diagnóstica por genética molecular de un nuevo caso.

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.