Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old boy with progressive paraparesis, personality change, and seizures had laboratory evidence of adrenal insufficiency. Pathologic study showed cerebral edema, but no loss of myelin. Notable pathologic changes were limited to the spinal cord, where the corticospinal and spinocerebellar tracts were demyelinated. Lipid analysis of the brain was normal apart from the finding that galactocerebroside contained a higher proportion than normal of alpha-hydroxy fatty acids. We suggest that this case represents a distinct disease, differing importantly from adrenoleukodystrophy. The underlying defect appears to be in the early enzymatic pathway before cholesterol synthesis, although it is also possible that the defect is at the cell membrane.
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PMID:Progressive spastic paraparesis and adrenal insufficiency. 97 4

A girl with non-contributory family history, at the age of 7 years developed a recurrent ataxic-spastic syndrome followed by disorders of consciousness and seizures. She died in a decerebrate state at the age of 10 9/12 years. Diffuse EEG abnormalities changed in accordance with the clinical course. CSF findings were always negative. Brain biopsy performed at the age of 9 5/12 years was non-diagnostic. No clinical signs of adrenal insufficiency were present. Neuropathological examination disclosed severe demyelination of the cerebral white matter with formation of large periventricular cavities, relative sparing of the subcortical arcuate fibers, and peripheral myelin breakdown of the orthochromatic (neutral fat) type. There was complete absence of inflammatory lesions, comparative preservation of axons and oligodendroglia with moderate astroglial reaction. The optic system and cerebellum were not involved. Additional postanoxic changes were seen in the thalamus and hippocampus. The sporadic case is suggested to represent a cavitating form of neutral fat (simple orthochromatic) leukodystrophy which is to be separated from Schilder's diffuse sclerosis and adrenoleukodystrophy. The etiology of the disorder is unknown.
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PMID:[Cavitating neutral fat leukodystrophy with recurrent course]. 98 13

The author presents a four-year-old boy with Pelizaeus-Merzbacher disease who required anaesthesia during placement of PE (pressure equalization) tubes and a permanent silastic intravascular device (Broviac catheter). Pelizaeus-Merzbacher is one of a group of progressive, degenerative disorders of the cerebral white matter known as the leukodystrophies. They include metachromatic leukodystrophy, adrenoleukodystrophy, Krabbe's disease, Canavan's disease, Alexander's disease and Pelizaeus-Merzbacher disease. Due to the progressive nature of the disorders and their devastating effects on the central nervous system, these children frequently require anaesthesia during imaging procedures such as MRI or during various surgical procedures. Of concern to the anaesthetist is the high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, and airway complications related to poor pharyngeal muscle control and copious oral secretions. In addition, adrenal involvement and hypofunction may be seen in patients with adrenoleukodystrophy. Identification of these associated conditions during the preoperative examination will allow safe anaesthesia for these children.
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PMID:Anaesthetic considerations for the child with leukodystrophy. 156 64

Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the peroxisome, a subcellular organelle. The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease); 2) those that result from multiple enzyme deficiencies (rhizomelic chondrodysplasia punctata); and 3) those that result from a single enzyme deficiency (X-linked adrenoleukodystrophy, primary hyperoxaluria type 1). Zellweger syndrome, the most lethal of the three peroxisomal biogenesis disorders, causes infantile hypotonia, seizures, and death within the first year. Ophthalmic manifestations include corneal opacification, cataract, glaucoma, pigmentary retinopathy and optic atrophy. Neonatal adrenoleukodystrophy and infantile Refsum's disease appear to be genetically distinct, but clinically, biochemically, and pathologically similar to Zellweger syndrome, although milder. Rhizomelic chondrodysplasia punctata, a peroxisomal disorder which results from at least two peroxisomal enzyme deficiencies, presents at birth with skeletal abnormalities and patients rarely survive past one year of age. The most prominent ocular manifestation consists of bilateral cataracts. X-linked (childhood) adrenoleukodystrophy, results from a deficiency of a single peroxisomal enzyme, presents in the latter part of the first decade with behavioral, cognitive and visual deterioration. The vision loss results from demyelination of the entire visual pathway, but the outer retina is spared. Primary hyperoxaluria type 1 manifests parafoveal subretinal pigment proliferation. Classical Refsum's disease may also be a peroxisomal disorder, but definitive evidence is lacking. Early identification of these disorders, which may depend on recognizing the ophthalmological findings, is critical for prenatal diagnosis, treatment, and genetic counselling.
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PMID:The peroxisome and the eye. 171 72

Adrenoleukodystrophy, an X-linked recessive disorder characterized by progressive demyelination of the central nervous system and adrenal insufficiency, usually manifests at 4-8 years of age. We report a 20-month-old male who presented with the sudden onset of status epilepticus and cortical blindness; initially, he had complete resolution of these findings, but experienced a relapse 3 months later. The initial computed tomographic scans depicted cerebral edema and possible "watershed infarcts:" however, over the next 2 weeks before discharge from the hospital, the cortical blindness and ataxia both resolved. During the next 2 months, he exhibited no symptoms: he had no seizures and his neurologic examinations were normal. Three months after the initial hospitalization, he developed what the mother believed was "a weakness on his right side." Magnetic resonance imaging confirmed severe white matter disease. Adrenoleukodystrophy was clinically suspected and an assay of plasma levels confirmed an elevation of C26 long-chain saturated fatty acid levels. After the patient's diagnosis of adrenoleukodystrophy was confirmed, long-chain fatty acid levels were obtained on his 5-year-old brother and his mother. This child had the earliest known onset of X-linked adrenoleukodystrophy.
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PMID:Variable phenotypes in a family kindred with adrenoleukodystrophy. 202 94

Recent electrophysiologic studies have focussed attention on the X-linked adrenoleukodystrophy (ALD) and its myeloneuropathic variant. No organized studies are, however, yet available on its relatively recently described neonatal variant. We conducted electroencephalographic, electroretinographic and evoked response studies in 2 patients with neonatal ALD. In one patient, an infant, initial EEG, hypsarrhythmic in waking and somewhat periodic in sleep, showed dramatic improvement on ACTH therapy accompanied with a seizure-free status. The EEG and clinical improvement, however, were temporary. No improvement occurred following pyridoxine therapy. Her electroretinogram (ERG), visual evoked responses (VERs) and far-field short latency brain-stem auditory evoked responses were also abnormal. The latter studies probably reflected photoreceptor degeneration, optic nerve involvement, cochlear and/or auditory nerve involvement respectively in neonatal ALD. The other patient, a 3.5-year-old girl, also had an EEG characterized by a moderate- to high-amplitude slow background activity and high-amplitude multifocal, generalized or periodic paroxysmal discharges, but presence of some better formed theta frequencies in background activity precluded a hypsarrhythmic label on her EEG. Her ERGs and VERs were totally extinct but in contrast to the first patient, she had clear-cut optic atrophy and retinitis pigmentosa on ophthalmological examination.
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PMID:Electrophysiologic studies in neonatal adrenoleukodystrophy. 257 57

Neonatal hypotonia, seizures beginning at 5 days, and severe retardation were noted in a girl with normal karyotype and biochemical evidence of impaired adrenal function. Postmortem examination at 14 months revealed malformative and destructive lesions of central gray and white matter, atrophy of adrenal cortex with striated adrenocortical cells, hepatic fibrosis, and PAS-positive macrophages in several organs. Pathologically and clinically, this patient most closely approximated neonatal adrenoleukodystrophy (ALD) and differed strikingly from X-linked childhood ALD. In contrast, biochemical changes resembled the abnormalities observed in X-linked ALD and differed from those in the neonatal form. The very-long-chain fatty acid accumulation characteristic of both disorders was demonstrated, but unlike neonatal ALD, the levels or metabolism of plasmalogens, pipecolic acid, phytanic acid, and bile acid intermediates were normal, and peroxisomes in a liver biopsy specimen were present in normal number and appeared enlarged. While the case resembles the recently reported entity of peroxisomal acyl-CoA oxidase deficiency, assignment to this category was excluded by immunoblot studies on postmortem liver, which revealed normal amounts of this enzyme. Correlation of clinical, morphologic, and biochemical data suggests that this case is an example of a so-far undescribed entity, and reinforces the concept that the phenotypic spectrum of peroxisomal disorders is wider than realized.
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PMID:Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. 338 29

Male and female siblings demonstrated similar facial features and had seizures from birth. Neurologic development, which was delayed, began to deteriorate at 1 year. Sudden death occurred at 2 8/12 and 2 3/12 years of age associated with respiratory infections. Tanning of the skin was noted 2 months before death in the first child. In the second child, blood cortisol levels failed to increase after intravenous ACTH administration, and computerized axial tomography (CAT) scans were normal. At autopsy both patients demonstrated adrenal atrophy and degenerative changes of the white matter throughout the neuraxis. We propose that these siblings have a new form of adrenoleukodystrophy that can be distinguished from the X-linked form by onset at birth, clinical appearance, and pattern of inheritance. A comparison of these cases with a second disorder, Zellweger's syndrome, suggests that a distinctive phenotype is associated with intrauterine degeneration of white matter.
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PMID:New form of adrenoleukodystrophy. 728 5

The authors present and discuss the care of a nine-month-old with neonatal adrenoleukodystrophy who required general anaesthesia for gastrointestinal endoscopy. Neonatal adrenoleukodystrophy is an inherited disorder of peroxisomal enzymes. Anaesthetic care may be affected by the presence of hypotonia, liver function abnormalities, gastroesophageal reflux, and impaired adrenocortical function. Preoperative sedation is contraindicated because of the risk of precipitating airway obstruction due to pre-existing hypotonia. Anaesthetic induction and tracheal intubation should be performed to minimize the risk for aspiration of gastric contents. The choice of muscle relaxant should take into account the pre-existing hypotonia as well as the possibility of hyperkalaemia in response to succinylcholine. Anaesthetic agents known to decrease the seizure threshold should be avoided in patients with a seizure disorder. In addition, anaesthetic agents that rely on the liver for metabolism should be used with caution in patients with cirrhosis. When time permits, these patients should be screened for adrenocortical insufficiency before surgery, and perioperative steroid coverage is advisable when preoperative testing of adrenocortical function is not feasible. While these patients eventually die after progressive deterioration, full recovery from the effects of anaesthesia and surgery can be achieved with attention to neurological, metabolic, and physical problems.
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PMID:Anaesthesia for the patient with neonatal adrenoleukodystrophy. 811 45

Cases of a ten-year-old boy with childhood cerebral adrenoleukodystrophy (ALD) and a 22-year-old youngster with adrenomyeloneuropathy (AMN) are reported. ALD is an inherited, X-linked perixisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). Neurological symptoms occur due to progressive demyelination and destruction of cerebral white matter and primary adrenal insufficiency. The boy with ALD manifested neurological signs (impaired spatial orientation, visual disturbances, poor handwriting, seizures). Latent primary adrenal insufficiency was established, and successfully treated by gluco- and mineralocorticoids. Lorenzo's oil (mixture of glyceroltrioleate:glyceroltrierucate 4:1) treatment significantly reduced elevated concentrations of VLCFA, but in spite of that, neurological symptoms progressed and the boy died a year after the initial clinical presentation of the disease. The boy with AMN revealed primary adrenal insufficiency at the age of 15 years. AMN was suspected when hair and eyebrows loss occurred and the diagnosis was established due to elevated VLCFA levels in the serum at the age of 22 years. On examination no neurologic signs of the disease could be detected. Adrenal insufficiency is well controlled by gluco- and mineralocorticoids. In addition to the previously described two women who were symptomatic heterozygotes we now also report on two patients with ALD and AMN. The patients reported are the first four with this peroxisomal disorder described in Croatia so far. Probably a great number of such patients remains unrecognised. Therefore, it is necessary to measure the serum VLCFA levels in males with primary adrenal insufficiency, and in those with signs of progressive central demyelination and destruction of cerebral white matter accompanied by neurological symptoms of unknown etiology.
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PMID:[X-linked adrenoleukodystrophy--2 case reports]. 965 Apr 81


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