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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case with acute disturbance of consciousness associated with calcium hopanthenate (HOPA) administration was reported. He was a 3-year-old boy with autistic developmental delay, had orally taken 1.5 g of HOPA daily for 3 months. Clinical manifestations consisted of fever, vomiting and coma. Laboratory examination revealed severe hypoglycemia and metabolic acidosis, but there were no hepatic enzyme abnormalities. Analysis of urinary organic acid profile showed that very large amounts of medium and long chain dicarboxylic acids and omega-1 hydroxy-fatty acids were excreted. In particular, 2-hydroxysebacic acid, the accumulation of which has only been reported in the urine of patients with Zellweger syndrome and neonatal adrenoleukodystrophy (NALD), was observed. Analysis of urinary acylcarnitines showed that acetylcarnitine was predominant and C6-C10 dicarboxylic acylcarnitines were also excreted. He was treated with and rapidly responded to intravenous glucose and bicarbonate. After withdrawal of the drug he has had no problems and dicarboxylic aciduria disappeared. A CT scan showed symmetric, low density areas in periventricular white matter, especially around the posterior horns of the lateral ventricles. A T2-weighted MRI scan revealed high-intensity signal in the white matter corresponding to areas of low density on CT scan. We conclude that that a large amount of HOPA administration may cause encephalopathy by the inhibition of both mitochondrial and peroxisomal beta-oxidation.
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PMID:[Clinical and biochemical studies in a case of acute encephalopathy associated with calcium hopanthenate administration]. 219 43

The spectrum of metabolic neuromuscular disorders is wide. Most inherited metabolic diseases are related to enzyme defects within lysosomes but recent advances emphasize abnormalities of mitochondria, peroxisomes and intermediate filaments. In this overview, organelle pathology is described in the context of both the clinical manifestations and the biochemical and/or molecular aspects of the disease. Among the many clinical presentations of mitochondrial disorders three emerge as distinctive entities: mitochondrial encephalopathy with lactic acidosis and stroke-like symptoms, mitochondrial encephalopathy with ragged-red fibers, and Kearns-Sayre syndrome. Peroxisomal disorders are associated with numerous biochemical defects, the most frequent of which are Zellweger's syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease. Disorders of cytoskeletal proteins are associated with distinctive pathological accumulation of intermediate filaments but are without confirmed evidence of a biochemical defect. Understanding the role that organelle pathology plays in the pathogenesis of cellular disturbance or demise is essential to the elucidation of the pathogenesis of metabolic disorders.
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PMID:Organelle pathology in metabolic neuromuscular disease: an overview. 240 27

Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review. Indications for specific laboratory studies are discussed. Guidelines are provided for the stabilization and emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional evaluation and specific treatment. Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. Typical symptoms include lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. Therefore, appropriate laboratory testing for metabolic disorders should be performed in any infant who exhibits these findings. Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particularly in a full-term infant with no specific risk factors. Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and fatty acid oxidation defects. The latter disorders, among the most common encountered, exhibit marked clinical variability and also may present as a sudden death, a Reye's-like episode, or a cardiomyopathy. Jaundice or other evidence of hepatic dysfunction is the mode of presentation of another important group of inborn errors of metabolism including galactosemia, hereditary tyrosinemia, neonatal hemochromatosis, and a number of other conditions. A subset of lysosomal storage disorders may present very early with coarse facial features, organomegaly, or even hydrops fetalis. Specific patterns of dysmorphic features and congenital anomalies characterize yet another group of inherited metabolic disorders, such as Zellweger syndrome and the Smith-Lemli-Opitz syndrome. Each of these symptom complexes, and the appropriate evaluation of the affected infants, is discussed in more detail in this review.
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PMID:Inborn errors of metabolism in infancy: a guide to diagnosis. 983 97

The West syndrome (WS) is a distinct age-dependent global encephalopathy which encompasses manifold problems of developing brain, and because of this, WS stands out as a symbolic syndrome for child neurology as a whole. It is unanimously recognized that this syndrome was first described by Dr W.J. West of Tunbridge, UK in 1841. In the following 100 years, however, the disease remained in the dark of neglect and misconception. An extensive literature survey carried out by Gastaut et al. revealed that only a few articles followed after West; about one article per decade between 1840 and 1920, and 18 per decade between 1920-1950. Among those, most distinguished contributions were detailed clinical observations made by Asal and Moro (1925) and Zellweger (1948), according to the author's opinion. An explosion of scientific interest at the world level was triggered by the discovery of hypsarhythmia on EEG by Gibbs and Gibbs in 1952 and of dramatic therapeutic effect of ACTH by Sorel and Dusaucy-Bauloye in 1958. In Japan, Katsutaka Takagi first reported four cases of apparent WS in 1903. An extensive search for Japanese classic literatures conducted by the author revealed 13 highly probable WS cases scattered in eight papers by 1945. A great confusion in terms of a concept of the disease had been prevailed for 50 years after Takagi until 1957, when the author first reported clinical and EEG findings in 99 cases, together with a 16 mm film demonstration of typical spasms in three cases at the Japan Pediatric Society meeting. Needless to say, however, WS turned out to be one of the most popular targets for clinical investigation of child neurologists in Japan afterwards, and nowadays, about 30 to 40 reports continue to be either published or orally presented at the meeting each year.
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PMID:History of clinical identification of West syndrome--in quest after the classic. 1172 Jul 93

Causes of hypotonia in the newborn can be broadly categorized into two classifications. Hypotonia with a supraspinal origin may be seen with systemic disease, hypoxic ischemic encephalopathy, cerebral malformations, syndromes (for example: Down, Prader-Willi, Lowe, Zellweger, Smith-Lemli-Opitz), and c-spine injury. Disorders of the motor unit that present with hypotonia in the newborn period include SMA, congenital myotonic dystrophy, congenital myasthenia gravis, and congenital myopathies. Central core disease is one of the classic congenital myopathies that can be differentiated based on characteristic histologic findings. Muscle fiber samples from patients with central core disease possess distinct morphology that can be diagnostic. Many infants may not exhibit muscle weakness in the newborn period, although there have been rare cases of profound hypotonia and respiratory failure. Clearly, muscle biopsy is the gold standard and is indicated for any infant with marked hypotonia that is not thought to be supraspinal in origin.
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PMID:The hypotonic infant: case study of central core disease. 1259 91

Moderate hypothermia therapy (HT) after perinatal asphyxia of the newborn has clearly demonstrated its efficacy in reducing both mortality and long-term neurosensory sequelae. HT has now been introduced in many developed countries as a standard of care for term infants meeting the entry criteria for therapeutic cooling. However, this new therapy is only effective in case of an acute perinatal hypoxic-ischemic event. Since a number of potentially deleterious complications have been described during cooling, a strict evaluation of the newborn's status is mandatory. To help clinicians reliably select newborns who may benefit from HT, amplitude-integrated electroencephalography (aEEG) is today strongly recommended. The indication criteria for cooling include aEEG in addition to delivery history, Apgar score, cord pH and lactates, and neurological scoring for encephalopathy. We report a clinical case of a term baby girl, considered for HT in our unit, because of a clinical feature of severe neonatal encephalopathy, metabolic acidosis on cord pH, and a history of fetal distress on fetal heart rate monitoring. However, despite all these criteria, her early aEEG, like her classic EEG, showed no signs of hypoxic-ischemic encephalopathy (HIE). She was then denied HT and her early magnetic resonance imaging (MRI) exam showed no signs of HIE but typical features of a metabolic disorder (Zellweger-like syndrome). Thanks to the HT strict protocols, including early aEEG and MRI exam, the right diagnosis was rapidly made and the hypothesis of a hypoxic-ischemic event during delivery was finally ruled out.
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PMID:[Neonatal therapeutic hypothermia: amplitude-integrated electroencephalography to confirm the indication]. 2324 66