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)

An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with predominantly lower-limb pyramidal signs. She had no seizures, and skin, hair, hearing, and intellect were normal. Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy. A diagnosis of biotinidase deficiency should be considered in children with unexplained bilateral optic neuropathy, particularly when there is accompanying gait disorder.
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PMID:Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 943 60

Virtually all cells in humans depend on mitochondrial oxidative phosphorylation to generate energy, accounting for the remarkable diversity of clinical disorders associated with mitochondrial DNA mutations. However, certain tissues are particularly susceptible to mitochondrial dysfunction, resulting in recognizable clinical syndromes. Mitochondrial DNA mutations have been linked to seizures, strokes, optic atrophy, neuropathy, myopathy, cardiomyopathy, sensorineural hearing loss, diabetes mellitus, and other clinical features. Mitochondrial DNA mutations also may play an important role in aging, as well as in common age-related neurodegenerative disorders such as Parkinson's disease. Therefore, it is becoming increasingly important for clinicians to recognize the clinical syndromes suggestive of a mitochondrial disorder, and to understand the unique features of mitochondrial genetics that complicate diagnosis and genetic counseling.
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PMID:Mitochondrial disorders: clinical and genetic features. 1007 67

A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. Sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. Light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.
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PMID:Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder? 1007 35

In a cross-sectional study of 24 Oriental children with systemic lupus erythematosus (SLE) with a mean age of 11.25 years, 75% were found to have clinical and neurophysiological evidence of cerebral lupus. Seizures were the most common manifestation affecting 11 (61%) of the cases, followed by psychosis in five (27.7%), encephalopathy in five (27.7%), headaches in five (27.7%), personality changes in four (22.2%), stroke in three (16.6%), movement disorders in three (16.6%) and myelitis in one child (5.5%). Four children had cerebral lupus as the presenting manifestation of SLE. Twenty-one children had an electroencephalogram (EEG) of which 11 were normal. Abnormalities detected in the rest included focal sharps, slowing of background and electrodecremental changes. There was a poor correlation of EEG with the clinical presentation. Sixteen children with cerebral lupus had a computed tomogram (CT) of which three were normal. The commonest abnormality was cerebral atrophy with or without infarcts. Only four of the cases had lupus anticoagulant but compliment was reduced in 13. Sixteen of the cases also had renal involvement. Treatment was generally with steroids with only two patients receiving cyclophosphamide for cerebral relapse. Eight children (44%) made a full recovery. Learning disability was the most frequent sequelae affecting one-third of children seen at a 1-year follow up. Four (22%) had epilepsy, two (11%) had motor deficits and one child had optic atrophy. One child died of cerebral haemorrhage during a hypertensive crisis.
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PMID:Childhood cerebral lupus in an Oriental population. 1039 44

We describe two cases of infantile neuroaxonal dystrophy, which is a rare, neurodegenerative disease, with autosomal recessive inheritance. The first case was an 8 year old boy, with arrested motor and mental development, ataxia and muscle weakness. On physical examination there was horizontal and vertical nystagmus, optic disc atrophy, hypotonia; deep tendon reflexes were absent. The second case was a 1.6 year old boy with arrested motor and mental development, and seizures. On physical examination there was optic atrophy, hypertonia and hyperreflexia. Both patients had on sural nerve biopsy neuronal enlargement, consistent with neuroaxonal dystrophy. Diagnosis without pathological confirmation with neuroaxonal spheroids is very difficult, because the clinical picture is variable and the neurophysiological findings are non specific.
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PMID:[Infantile neuroaxonal dystrophy: report of 2 cases]. 1068 93

The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve cells. The majority of the patients are infants with the Tay-Sachs form of the disease associated with a severe deficiency of beta-N-Acetylhexosaminidase A (hexosaminidase A). Both Hexosaminidase A and B are deficient in Sandhoff disease. The serum total hexosaminidase and the percentage of hexosaminidase A and B were estimated in 449 patients who presented with progressive mental-motor retardation. Three cases of Tay-Sachs disease and two cases of Sandhoff disease were detected. They presented with exaggerated startle response to acoustic stimuli, seizures, optic atrophy and retinal cherry red spots in addition to psychomotor retardation. One case of Sandhoff disease had hepatosplenomegaly and skeletal deformities.
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PMID:GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay. 1082 9

A 7.5-year-old girl, with infantile neuroaxonal dystrophy (INAD), showed a gradual deterioration from 16 months; at age 5 years she was bedridden, with severe tetraplegia, strabismus, nystagmus and optic atrophy, and dementia. From age 5.5 years, she had paroxysmal tonic events. Videopolygraphic recordings disclosed two different kinds of motor events: (a) epileptic tonic seizures, in wakefulness and sleep, associated with autonomic changes and ictal EEG discharges; and (b) nonepileptic prolonged clusters of brief tonic spasms, without ictal modifications of the EEG. Both motor events were characterized by a minimal and clinically similar tonic contraction of the upper extremities. Video-polygraphic studies are mandatory for a correct paroxysmal event classification and treatment in INAD patients.
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PMID:Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case. 1155 95

The progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is a pediatric disorder of unknown origin, characterized by a combination of postnatally progressive encephalopathy, hypsarrhythmia, and optic atrophy. The pathological findings are early progressive atrophy of the cerebellum, brainstem, and optic nerves. Nitric acid (NO) has recently been implicated in the mechanisms of seizure activity and neurodegeneration, which are both very active in the PEHO syndrome. However, recent studies have provided evidence that insulin-like growth factor 1 (IGF-1) may prevent the NO-mediated neuronal damage and is essential for the survival of the cerebellar granule cells. These cells will degenerate in the PEHO syndrome. In this study, we set out to test the hypothesis that NO production is activated in the PEHO syndrome and that NO production may be correlated with the reduced production of IGF-1 in the brain. Cerebrospinal fluid IGF-1 was determined with an RIA kit and NO metabolites by the Griess calorimetric method. In patients with the PEHO syndrome, as compared with controls, the levels of IGF-1 were reduced and the levels of nitrite/nitrate were markedly elevated. Defective production of IGF-1 probably reflects the underlying neurodegeneration and the increase in NO production probably reflects the seizure activity and/or neurodegeneration. These are the first biochemical abnormalities found in the PEHO syndrome and their study may lead to a better understanding of this devasting disease.
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PMID:The PEHO syndrome. 1170 Dec 91

We report the clinical findings and the diagnostic work-up of a 17-month-old girl with CDG-x. Predominant clinical signs were, besides psychomotor retardation and truncal hypotonia, stereotyped dystonic hand movements and ophthalmological abnormalities such as optic atrophy, nystagmus and strabismus. Other symptoms that are often found in patients with CDG were not present, such as seizures, microcephaly, cerebellar hypoplasia, dysmorphic features, hepatointestinal disease, coagulopathy or multiorgan involvement. Isoelectric focusing (IEF) of the patient's serum showed a marked elevation of disialotransferrin, thus confirming an IEF type 1 pattern. A generalized glycosylation defect was confirmed also by IEF of a further glycoprotein (alpha1-antitrypsin), an increased carbohydrate deficient transferrin (CDT) serum concentration and an increased CDT/transferrin ratio. All known types of CDG-I, secondary glycosylation abnormalities and variants of amino acid sequence were excluded.
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PMID:A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. 1211 27

We describe the first three cases of classical, late-infantile, neuronal ceroid lipofuscinosis from Russia. All of the patients had seizures, myoclonia, cognitive deterioration, cerebellar and pyramidal signs and also optic atrophy. Parkinsonian features were observed in one case. Electroencephalogram, evoked potentials, fundoscopy and magnetic resonance imaging (MRI) findings were characteristic for classical, late-infantile, neuronal ceroid lipofuscinosis. There was also evidence of hypointensity of the thalami in T2-weighted MRI in one patient, which was not reported earlier. Nerve conduction velocity was slowed in one case. All patients were found to have significantly reduced tripeptidyl peptidase 1 activity. All patients were homozygous for g3670 C-->T (Arg208Stop) mutation. We presume that this mutation is common in Russia.
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PMID:The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis. 1236 3


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