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PubMed1980

[Infantile portal hypertension. Experimental studies on the hemodynamics of various shunt models and clinical study of prehepatic infantile portal hypertension].

The experiments are based on an analysis of the literature on more than 2000 cases of portal hypertension in childhood. The purpose of the experimental model was to test and compare the hemodynamic effects of shunt operations performed in the clinic. In 24 dogs (29 +/- 5,7 kg) general and intestinal hemodynamics were measured during acute prehepatic portal hypertension before and after mesentericocaval, splenorenal, and splenocaval shunt. From the hemodynamic point of view the splenocaval shunt is superior because of its complete venous decompression of the region of spleen and cardia and greater blood flow to the liver. Furthermore shunt flow, and consequently volume load imposed on the general circulation, are significantly smaller in splenocaval shunt.

Animals↗
PubMed1993

[Organochlorine compounds: correlation between maternal and infantile blood levels, maternal milk and maternal-infantile parameters. Study in the province of Huelva].

In our study of the levels of organochlorine compounds (OCC), several factors were taken into account. In the mother, age, diet, place of residency, profession, the number of previous breast-fed children and alcohol and tobacco intake. We then studied the effect of the OCC passed through the placenta. Here, we checked the length of gestation, the birth weight, the cephalic perimeter measurement, the possible neurological alterations such as hypotonie and hyporreflexie and the possible clinical repercussions of the OCC. The OCC studied were, DDT, hexachlorobenzene (HCB), hexachlorocyclohexanes (HCH) and isomers alpha, beta and gamma or lindane, dieldrin, heptachloro epoxide (HE) and polychlorobiphenyl compounds (PCB). The samples studies included, blood for the mother and umbilical cord during the delivery, blood from the babies at the ages of one and three months, and the mother's milk (n = 30) and formula milk (n = 20) one and three months after birth. The analytical study was made at the National Institute o Toxicology in Seville with the following methods, gas chromatography, electron capture detector and mass spectrometry. The statistical analysis was based on the Kruskal-Wallis, Shapiro Wilks, Levene, Pooled and Separate tests. We have found that older mothers and those who consumed more fatty meat and blue fish had statistically significant higher levels of OCC. There were also differences depending on the place of residency. The newborn babies with a greater birth-weight and cephalic perimeter measurements also had higher levels of OCC. In these babies, we also found clinical symptoms such as hypotonie and hyporreflexie.

Adult↗
PubMed1976

[Infantile papular acrodermatitis. Acrodermatitis papulosa and the infantile papulovesicular acrolocalized syndrome].

Papular acrodermatitis of childhood is an infectious disease characterized by a non-relapsing, non-itching, monomorphic erythemato-papular dermatitis limited to the face and limbs. It is always associated with anacute hepatitis, with hepatitis B antigen in the serum and with a reactive reticulohistiocytic lymphadenitis. In childhood other types of papular or papulovesicular acro-located eruptions, itching or non-itching, associated with reactive lymphadenitis, are observed, in the course of known diseases and with unknown cause. These acro-located cutaneous eruptions of unknown origin, which show varying features, should be classified as "papulovesicular acrolocated syndrome" until their ethiopathogenesis is known.

Acrodermatitis↗
PubMed2002

Benign familial infantile seizures: further delineation of the syndrome.

Benign familial infantile seizures are an autosomal dominant epilepsy disorder that is characterized by convulsions, with onset at age 3 to 12 months and a favorable outcome. Benign familial infantile seizures have been linked to chromosome 19q whereas infantile convulsions and choreoathetosis syndrome, in which benign familial infantile seizure is associated with paroxysmal choreoathetosis, has been linked to chromosome 16p 12-q12. Many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Moreover, in one large pedigree with paroxysmal kinesiogenic dyskinesias only, the syndrome has also been linked to the same genomic area. Families with pure benign familial infantile seizures may be linked to chromosome 16 as well. In this study, we present a series of 19 families and 24 otherwise healthy infants with benign familial infantile seizures. Two of these families include members affected with benign familial infantile seizures and paroxysmal choreoathetosis. We included patients with normal neurologic examinations, who started having simple partial seizures, complex partial seizures, or apparently generalized seizures without recognized etiology between 2 months and 2 years of age. Neurologic studies were normal, but in all patients, there was a history of similar seizures and age at onset in either the father or the mother. Twenty-four patients (14 girls and 10 boys) were evaluated at our hospital between February 1990 and February 2001. Age at onset, sex, family history of epilepsy and/or paroxysmal dyskinesias, neurologic examination, semiology, distribution, and frequency and duration of seizures were evaluated. Electroencephalographic (EEG) and neuroradiologic studies were also performed. Seizures began between 3 and 22 months of life, with a median age of 5 1/2 months. Nine patients (37.5%) had only apparently generalized seizures, 5 patients (20.8%) had only partial seizures, and 10 patients had both partial and apparently generalized seizures (41.6%). Seizures were invariably brief, occurred during the waking state (100%), and presented mainly in clusters in 12 patients (50%). Interictal EEG was normal in 23 patients (95.8%). Sixteen patients (66.6%) had a confirmed history of convulsions in family members other than parents. Twenty-two patients became seizure free after 30 months of life. Two brothers in the same family had brief paroxysmal episodes of choreoathetosis in the hemibody triggered by stress while awake at 15 and 17 years old, respectively. One of them had paroxysmal choreoathetosis only, and the other was associated with benign familial infantile seizures. One father had brief spontaneous episodes of paroxysmal choreoathetosis when awake at age 18 years. All of them had a good response to antiepilepsy drugs, and neurologic examination and EEG and neuroradiologic studies were normal. Benign familial infantile seizure is a genetic epilepsy syndrome with autosomal dominant inheritance. It may be associated with paroxysmal choreoathetosis (infantile convulsions and choreoathetosis syndrome), which has been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Patients in families with infantile convulsions and choreoathetosis syndrome could display either benign familial infantile seizures or paroxysmal choreoathetosis or both. It is likely that the disease in families with pure benign familial infantile seizures may be linked to the infantile convulsions and choreoathetosis region as well. We cannot exclude the possibility that the youngest patients may develop choreoathetosis or other dyskinesias later in life.

Athetosis↗
PubMed2006

Head growth in infants with infantile spasms may be temporarily reduced.

Epileptic activity, as a component of epileptic encephalopathies, can interfere with brain growth and development. Infantile spasms as a syndrome represent such epileptic activity during the period of spasms and hypsarrhythmia. The rate of head growth in infants with infantile spasms during the period of spasms has not been studied previously. A retrospective study of head growth in 38 infants with infantile spasms and no other cause of abnormal head growth is presented. Mental outcome was assessed at follow-up. The mean head circumference of infants with infantile spasms was not significantly smaller than in the normal population, but the proportion of head circumference below the tenth percentile in the infantile spasms group was higher (27%). Head circumference below the tenth percentile in the fourth and fifth month after the onset of infantile spasms was significantly associated with later mental retardation (P = 0.004). There was no correlation with specific treatment of infantile spasms. Transiently diminished head growth in infants with infantile spasms coincides temporally with the onset of infantile spasms and "catches up" during remission of infantile spasms in favorable cases. This pattern can reflect the negative influence of epileptic activity on brain growth during the sensitive period. Head circumference can provide a reliable predictive value of mental outcome in children with infantile spasms.

Case-Control Studies↗
PubMed2002

Treatment of infantile spasms: an evidence-based approach.

The object of this work was to subject established empirical medical treatment regimens for infantile spasms to evidence-based medicine analysis in order to determine the current best practice for the treatment of infantile spasms in children. Clinical studies of infantile spasms reported during the presteroid era were reviewed critically to define the natural history of the disorder. Treatment trials of infantile spasms conducted since 1958 were rigorously assessed using MEDLINE and hand searches of the English language literature. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmia. Outcome measures included complete cessation of spasms, resolution of hypsarrhythmia, relapse rate, developmental outcome, the presence or absence of epilepsy, and/or an epileptiform electroencephalogram. Evidence was defined as class I, II, or III, and practice parameter recommendations were made using the framework devised by the American Academy of Neurology. Class I and III evidence support a standard of practice recommendation for the use of vigabatrin in the treatment of infantile spasms in children with tuberous sclerosis. Class I and III evidence support a guidelines recommendation for the use of either ACTH or vigabatrin in infantile spasms in nontuberous sclerosis patients. There is no strong evidence that successful treatment of infantile spasms improves the long-term prognosis for cognitive outcome or decreases the incidence of later epilepsy. A practice option recommendation for the use of oral corticosteroids in the treatment of infantile spasms is supported by limited and inconclusive class I and III data. Based on the evidence, no recommendation can be made for the use of pyridoxine, benzodiazepines, or the newer antiepileptic drugs in the treatment of infantile spasms. ACTH and vigabatrin are the most effective agents in the treatment of infantile spasms, but concerns remain about the risk/benefit profiles of these drugs.

Adrenocorticotropic Hormone↗
PubMed1992

Treatment of infantile spasms: medical or surgical?

Although infantile spasms were initially described in 1841, remarkably little progress has been made in understanding the pathophysiology of this "peculiar form of infantile convulsions." Consequently, our ability to treat infantile spasms is limited. Infantile spasms are classified as a "generalized" seizure disorder in the international classification system, which suggests that the underlying brain abnormality causing the seizures also must be diffuse or generalized. As the classification suggests, there are many diffuse, or multifocal, brain disorders related to infantile spasms, e.g., inborn errors of metabolism, hypoxic-ischemic brain injury, and developmental brain defects such as tuberous sclerosis or Aicardi's syndrome. On the other hand, infantile spasms have been reported in which a localized brain abnormality was present, e.g., tumor, stroke, and trauma. On rare occasions, removal of a tumor has resulted in cessation of the generalized infantile spasms. This finding suggests that focal cortical abnormalities can cause infantile spasms and that removing the abnormality can stop the seizures. At University of California, Los Angeles, the Pediatric Epilepsy Surgery Program has developed new approaches to the treatment of infantile spasms. The principal underlying concepts are (a) children with medically refractory infantile spasms may have an area of cortical defect (called the zone of cortical abnormality) that causes the seizures and (b) infantile spasms are usually generalized seizures. Thus, the goal of the surgical assessment is not the identification of the focus of seizure onset but rather the identification of the zone of cortical abnormality.

Adrenocorticotropic Hormone↗
PubMed2003

Infantile spasms.

Infantile spasms is a catastrophic form of epilepsy found only in infants and young toddlers, with the peak incidence between 4 - 7 months of age. Estimated prevalence is 1 in 2000 - 6000 live births. There are many causes of infantile spasms, including tuberous sclerosis, hypoxic-ischaemic injury, congenital infectious diseases, inborn errors of metabolism, malformations of cortical development, genetic syndromes such as Aicardi's syndrome and chromosomal abnormalities. A small percentage of patients have idiopathic infantile spasms, with normal growth and development prior to the onset of infantile spasms and no known aetiology. Because of the poor prognosis of infantile spasms, treatment is usually aggressive and immediate, with the hopes of altering the natural history of the disease. The majority of patients with infantile spasms have a poor prognosis with intractable epilepsy, severe developmental delays and/or significant cognitive impairments. Of all patients with infantile spasms, 70 - 90% have mental retardation. Furthermore, 20 - 50% of patients with infantile spasms develop Lennox-Gastaut syndrome with multiple seizure types, cognitive impairments and a markedly abnormal electroencephalogram, arguably one of the most difficult epilepsy syndromes to treat. Infantile spasms are resistant to most of the standard antiepileptic drugs. Adrenocorticotropin hormone (ACTH) or oral steroids result in a significant reduction of seizures, as well as an improvement in the electroencephalogram. Some studies have indicated that infants treated with ACTH within the first month of onset have a more favourable prognosis. Vigabatrin has also been shown to be effective in the treatment, although it is not yet FDA-approved in the US. Valproate has also been used in the treatment of infantile spasms, with an efficacy of approximately 25 - 40%. However, in the very young infant, it does carry a high risk of fatal hepatotoxicity. Surgical resection may be the treatment of choice for those infants with focal cortical dysplasia and intractable infantile spasms. Emerging therapeutic possibilities include topiramate, felbamate, lamotrigine, zonisamide and perhaps levetiracetam. With the advancements in molecular biology, genetics and neuroimaging, there is the hope of novel therapies in the future.

Anti-Inflammatory Agents↗
PubMed2003

Infantile-onset nystagmus.

PURPOSE OF REVIEW: Recent studies on the various forms of infantile-onset nystagmus have advanced our understanding of these disorders. The previously described waveforms of infantile nystagmus syndrome (congenital nystagmus) may be identified in infants less than 7 months of age, including the more mature forms; the visual status of these patients may be directly correlated with their mean foveation times. RECENT FINDINGS: Refractive errors in patients with infantile nystagmus syndrome do not follow the expected trend toward emmetropization during infancy and early childhood. A study on the torsional component of nystagmus present in most patients with infantile nystagmus syndrome found it to be generated centrally and not by peripheral or mechanical dynamics. Two psychophysical studies on patients with infantile nystagmus syndrome revealed significant differences compared with control subjects. Two different animal models imply that lack of normal visual motion during a critical period of development in infancy leads to infantile nystagmus syndrome. An electron microscopic study of the enthesis site-where the extraocular muscle tendon inserts onto the sclera-in normal individuals versus patients with infantile nystagmus syndrome revealed significant abnormalities in the latter. Significant demographic and socioeconomic differences were reported between patients with infantile nystagmus syndrome and those with spasmus nutans. SUMMARY: New evidence supports a role for sympathomimetic modulation of infantile nystagmus syndrome. Novel surgical treatments for infantile nystagmus syndrome are also discussed.

Age of Onset↗
PubMed1989

Infantile spasms.

Infantile spasms constitute a relatively rare disorder of infancy and early childhood; their onset is usually within the first 6 to 8 months of life. A large percentage of patients with this disorder (85-90 per cent) show various degrees of retardation. Infantile spasms typically occur in clusters immediately on arousal, or soon thereafter, but rarely occur while the infant is actually asleep. The usual interictal EEG pattern associated with infantile spasms is hypsarrhythmia, but infantile spasms may occur in the absence of this EEG pattern. The pathophysiology of infantile spasms is not known, but recent evidence suggests that certain regions in the brain stem that are associated with sleep cycling may be responsible for the clinical and EEG manifestations of this disorder. At present, the only known effective treatment for infantile spasms is ACTH or corticosteroids. The therapeutic efficacy of these two agents is relatively equal, and one drug may be effective if the other drug fails. The effectiveness of certain traditional anticonvulsants (valproic acid and the benzodiazepines) and pyridoxine in the treatment of infantile spasms has not been adequately assessed. The long-term mental and developmental outcome of patients with infantile spasms is poor. The only factor that appears to be important in terms of long-term outcome is whether the patient is initially classified as cryptogenic or symptomatic, with the cryptogenic patients having the better outcomes. Approximately half of the infantile spasm patients will continue to have other types of seizures after their spasms stop.

Adrenal Cortex Hormones↗