Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI and an intracranial arteriovenous malformation (AVM), which has not been previously reported.

Arteriovenous Malformations↗

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Ultrasonographic findings in thalamus and basal ganglia in term asphyxiated infants.

Three severely asphyxiated term neonates demonstrated bilateral hyperechogenicity in the thalamus and basal ganglia. During evolution, areas of attenuated echogenicity appeared in these structures at the same time as periventricular cysts were evident in 2 patients with coexistent periventricular leukomalacia. All 3 patients developed ventricular dilatation; in the 2 patients with periventricular leukomalacia, the ventricular border was irregular in the outer (dorsal) margin, and interhemispheric fissures were widened as a manifestation of cerebral atrophy. Furthermore, the thalamic inner (ventral) margins of the lateral ventricles were irregular in all 3 patients. This previously unrecognized finding points to a particular form of cerebral atrophy localized in the gangliothalamic region that contributes to the development of ventriculomegaly. The reported sonographic sequence implies profound damage in the thalamus and basal ganglia in asphyxiated infants which undoubtedly has contributed to the poor outcomes of our patients.

Asphyxia Neonatorum↗

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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.

Catheterization, Peripheral↗

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Plasma levels of tumour necrosis factor alpha and transforming growth factor beta-1 in children with dengue 2 virus infection in French Polynesia.

The pathogenesis of dengue haemorrhagic fever (DHF) is not well understood. In the absence of predictive clinical or biological criteria, the management of DHF patients remains difficult. The role played by cytokines in the occurrence of DHF has been suggested by several authors. In this study, we determined the plasma levels of tumour necrosis factor alpha (TNF alpha) and transforming growth factor beta-1 (TGF beta-1) in 52 children with laboratory-confirmed dengue virus infection admitted to hospital during the recent dengue 2 outbreak in French Polynesia. Thirty-three children were classified as having dengue fever (DF) and 19 as DHF. The plasma of both DF and DHF patients contained similar levels of TNF alpha. By contrast, plasma obtained from children with DHF had significantly higher levels of TGF beta-1 than plasma from children with DF, especially from days 1 to 3 after the onset of fever.

Adolescent↗

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[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↗

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[Neonatal EEG trace of burst suppression. Etiological and evolutionary factors].

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.

Calcium Channel Blockers↗

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[Alpha coma: clinical, electroencephalographic and aetiological correlation in childhood].

INTRODUCTION: Alpha coma is defined as the appearance, in an unconscious patient, of EEG activity in the alpha frequency band (8-13Hz). OBJECTIVE: To determine, in our setting, the incidence, aetiology, clinical significance and course of alpha coma in paediatric patients and review the literature. PATIENTS AND METHODS: We did a retrospective study of the patients admitted to a paediatric intensive care unit who had alpha activity recorded whilst in coma. RESULTS: Only two patients, aged 5 and 12 years, were found. Both had complex congenital cardiopathy and cardio-respiratory arrest one and twelve days postoperatively, respectively. Several EEGs were done whilst they were in coma. Barbiturate coma was not used. Both had clinical mid-brain involvement during alpha recording. The pattern was bilateral, arreactive and preceded by a theta pattern, appeared two days after the arrest, was maintained for two and three days in the two cases and was followed by delta pattern. The second case finally showed a 'burst-suppression'. The CAT was normal. The patients died 4 and 11 days after the appearance of alpha coma. CONCLUSIONS: Alpha coma is rare in childhood. Both the aetiology and the bad prognosis are similar to that of adults. Alpha coma is a transient EEG pattern occurring during the evolution of coma. We consider it to be due probably to mid-brain involvement.

Adult↗

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[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↗

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[Mannosidosis. Clinical and enzymatic studies in a family].

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Child↗

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[Treatment of the partial epilepsy in the first two years of life. Experience in 26 cases].

We performed a retrospective study with 26 patients with partial epilepsy (16 male, 10 female), aged between 1 and 24 months. We excluded those patients with seizures secondary to cerebral and extracerebral acute diseases, febrile convulsions, infantile spasms and other epileptic syndromes frequently diagnosed at this age. Etiology was of prenatal origin in 8 cases, perinatal in 9, postnatal in 3, and 6 were cryptogenic. They were all initially treated with phenobarbital (PB), 5 mg/kg/day. If seizures did not disappear, clonazepam (CZP) 0.1 mg/kg/day was added. Fifteen patients were controlled with PB in monotherapy, 7 need the association of CZP, and 4 patients could not be controlled. Among the last ones, 2 were controlled with PB and phenytoin, and the other 2 showed no response to any other drugs. Side effects (drowsiness and increased oropharyngeal secretions) were mild and transient. According to our experience, PB, alone or associate with CZP, is a safe and efficient treatment for seizures in symptomatic and cryptogenic partial epilepsy.

Age of Onset↗

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[Early infantile epileptic encephalopathy].

Early infantile epileptic encephalopathy (EIEE) with burst-suppression (Ohtaharas syndrome) is a rare type of epileptic encephalopathy in infancy and represents the earliest type of age-related symptomatic generalised epilepsy. We present 4 cases of EIEE fulfilling the classic diagnostic criteria, excluding the cases with segmentary and erratic myoclonic, characteristic features of Early Myoclonic Encephalopathy. All the patients were females. Pregnancy and delivery were normal and no other cases were observed in the families. One of the patients had a normal twin brother. Seizures began in all the cases before the 10th day of life. The initial EEG showed burst-suppression pattern, lasting for an average of 2.3 months of age (1.5-4 months). Seizures were initially resistant to therapy, although 2 cases showed partial response. None of the patients evolved to West syndrome. A case died at 5 months of age. No etiologic factors were found in two cases, but hemimegalencephaly was detected in the other two patients; in one of them seizures disappeared after corticectomy. We believe EIEE constitutes a type of epileptic encephalopaty which can be distinguished from other types of early onset epilepsy and should be included in the International Classification of Epilepsies with the West and Lennox-Gastaut syndromes.

Age of Onset↗