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

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.
 ...
PMID:Anaesthetic considerations for the child with leukodystrophy. 156 64

An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and spasticity. There was nearly complete absence of central myelin with preservation of peripheral myelin. The 17 reported patients with connatal Pelizaeus-Merzbacher disease are summarized. Evidence of autosomal recessive inheritance is provided by our patient, 3 previously described girls, and 1 family with both boys and girls affected equally. This possible form of inheritance is important to consider in genetic counseling.
 ...
PMID:Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form. 350 78

Reported here are two siblings with sudanophilic leukodystrophy occurring in early infancy. Soon after birth, high fever, distension of the abdomen and spasticity of the extremities were noted. Neurologic disorders, frequent convulsive seizures, and malnutrition caused both siblings to die at the age of 3 and 6 months, respectively. Neuropathologic examination of the brain revealed diffuse demyelination in the cerebral and cerebellar white matter as well as a disturbance of the myelination, especially in the descending pathway. Numerous sudanophilic lipids and glial fibers proliferated in the demyelinated areas. Neurochemically, there was a marked decrease in all lipid components, cholesterol, phospholipids, and glycolipids and an increase in cholesterol ester. Fatty-acid composition of cerebroside and sulfatide, especially that of long-chain acids, was within normal range, unlike the fatty-acid composition found in connatal Pelizaeus-Merzbacher disease. The brain damage in postnatal infant caused by frequent convulsive seizures and the severe demyelination in the cerebral and cerebellar white matter in both patients are discussed. The cases of sudanophilic leukodystrophy and Pelizaeus-Merzbacher disease occurring in children under 5 years of age are reviewed.
 ...
PMID:Postnatal sudanophilic leukodystrophy in two siblings. 402 64

A 39 year-old man with mild stable mental retardation, without family history, developed progressively a gait disturbance and intellectual deterioration. CT scan showed a low density of the periventricular hemispheric white matter which increased on subsequent examinations. Eight months before death he presented with several Grand Mal seizures. He died 29 months after the onset of the clinical disorders. Neuropathological studies included light and electron microscopy of a cerebral biopsy and a post-mortem examination of the brain. It showed a sudanophilic leukodystrophy with unusual features: cavitation of the white matter, oligodendrocyte proliferation and lamellar "fingerprint" dense cytoplasmic inclusions in the oligodendrocytes. Only 3 similar cases have been previously reported.
 ...
PMID:[Cavitary orthochromatic leukodystrophy with oligodendroglial changes. A sporadic adult case]. 408 1

Two spanish male brothers with weakness and muscular dystrophy and affection of the CNS are presented. Muscular disturbances were noticeable from birth and, although generalized, they affected more severely proximal muscles. Both children presented joint contractures from an early stage. None of the patients got to walk and to stand. Muscular serum enzymes were slightly elevated. EMG and muscular histology were compatible with conventional pathology of PMD. Other features of severe alteration of CNS were observed in both patients, being the most significant lack of sphincter control at 13 and 7 years old, mental retardation with an IQ about 70, generalized seizures at 10 years in the older boy and presence of brain alterations at computerized tomography (CT), consisting in low density on subcortical brain parenchima in both cerebral hemispheres and the cerebellum in the older brother and in both cerebral hemispheres in the younger. Clinical course is stationary in both brothers. It seems that in our patients there is an autosomal recessive heredity. All clinical, genetic, EMG, CT and histological features are compatible with congenital progressive muscular dystrophy of Fukuyama type.
 ...
PMID:[Muscular dystrophy with central nervous system involvement. Apropos of 2 Spanish cases]. 666 Jun 39

Proteolipid protein (PLP) is an integral membrane protein of CNS myelin. Mutations of the X chromosome-linked PLP gene cause glial cell death and myelin deficiency in jimpy mice and other neurological mutants. As part of an attempt to rescue these mutants by transgenic complementation, we generated normal mouse lines expressing autosomal copies of the entire wild-type PLP gene. Surprisingly, increase of the PLP gene dosage in nonmutant mice with only 2-fold transcriptional overexpression results in a novel phenotype characterized by severe hypomyelination and astrocytosis, seizures, and premature death. This demonstrates that precise control of the PLP gene is a critical determinant of terminal oligodendrocyte differentiation. Dysmyelination of PLP transgenic mice provides experimental evidence that Pelizaeus-Merzbacher disease, previously associated with a partial duplication of the human X chromosome, can be caused by doubling of the PLP gene dosage.
 ...
PMID:Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. 751 50

Clinical, neuropathological and molecular genetic studies in a 9 month old boy with Pelizaeus-Merzbacher disease are described. The principal clinical features were developmental delay, nystagmus, stridor and seizures. Both brain and spinal cord showed almost complete absence of stainable central myelin, while cranial and spinal root myelin was preserved. Probes for cDNA in the boy and his asymptomatic mother indicated an increase in the dosage of proteolipid protein gene (of at least twofold) compared with controls.
 ...
PMID:A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. 754

Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones. A similar connatal presentation has been reported in other degenerative disorders, such as Pelizaeus-Merzbacher disease. Heredodegenerative disorders should be considered when no cause is discovered for a severe, congenital, static encephalopathy.
 ...
PMID:Connatal Leigh disease. 755 83

Mutations of the proteolipid protein (Plp) gene cause a generalized central nervous system (CNS) myelin deficit in Pelizaeus-Merzbacher disease of man and various tremor syndromes in animal models. X-linked spastic paraplegia is also due to Plp gene mutations but has a different clinical profile and more restricted pathology involving specific tracts and regions. We have shown previously that PLP overexpression in mice homozygous for a Plp transgene results in premature arrest of CNS myelination and premature death. Here, we demonstrate that a low-level increase in Plp gene expression in transgenic mice causes significant axonal degeneration and demyelination with predilection for specific tracts. Following normal motor development, aged mice develop progressive myelin loss, axonal swellings with resultant Wallerian degeneration, and marked vacuolation of the neuropil associated with ataxia, tremor, and seizures. The age of onset and severity of the phenotype is a function of Plp gene dosage. The corticospinal tracts, optic nerve, fasciculus gracilis cerebellum, and brainstem are particularly involved. Although oligodendrocyte cell bodies show little abnormality, their inner adaxonal tongue is often abnormal, suggesting a perturbation of the axon/glial interface that may underlie the axonal changes. We conclude that abnormal expression of an oligodendrocyte-specific gene can cause axonal damage, a finding that is relevant to the pathogenesis of PLP-associated disorders and probably to other myelin-related diseases.
 ...
PMID:Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene. 959 May 58

The purpose of this study is to explore and compare epileptic seizures and EEG evolution in the various types of genetic leukodystrophy (GL). The authors reviewed the medical records and analyzed 69 serial EEGs in 27 patients with GLs: 13 with late infantile metachromatic leukodystrophy, one with juvenile metachromatic leukodystrophy, one with globoid cell leukodystrophy, six with X-linked childhood adrenoleukodystrophy, one with neonatal adrenoleukodystrophy, four with classic Pelizaeus-Merzbacher disease (PMD), and 1 with connatal Pelizaeus-Merzbacher disease. The diagnoses were made by biochemical and molecular studies. Two or more EEG studies with both awake and sleep traces were recorded during the varying clinical stages for each patient. At the beginning of the GLs, the EEGs were normal or showed mild slowing of background activity. Clinical seizures, mainly of focal origin, with progressive slowing and paroxysmal discharges on EEGs, usually appeared during the later stages of metachromatic leukodystrophy, X-linked childhood adrenoleukodystrophy, and classic Pelizaeus-Merzbacher disease. However, intractable seizures, mainly generalized in nature, and more severe slowing and abundant paroxysmal discharges on EEGs, with commensurate neurologic deterioration, were observed during the earlier course of globoid cell leukodystrophy, neonatal adrenoleukodystrophy, and connatal Pelizaeus-Merzbacher disease. These results indicate that GLs involve not only white matter, but gray matter as well. In all types of GL, there is good correlation between the severity of EEG changes, the severity of the diseases, and the clinical state of the patient.
 ...
PMID:Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies. 1129 Sep 36


1 2 Next >>