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)

Charts of all infantile esotropes who received their primary surgical procedure at the North Carolina Memorial Hospital, between February 1978 and June 1984 were reviewed. Neurologic problems (general and ocular) were identified in 29 of the 47 patients (61.7%) followed a minimum three months (mean = 25.0 +/- 2.9 mos). Frequent general neurologic problems were prematurity, hydrocephalus, mental retardation, cerebral palsy, meningomyelocele, intraventricular hemorrhage, and seizures (neonatal and/or postnatal). Abducens nerve palsy was the most common ocular neurologic impairment. Neurologic impaired esotropes were older (mean = 31.9 +/- 3.8 mos) than the "normal" group (mean = 17.0 +/- 3.3 mos) at the time of surgery. Recession/resection procedures were performed on 13 (44.8%) of the neurologically impaired and nine (50.0%) of the normal esotropes. Bimedial recessions were employed on 12 (41.4%) of the patients with neurologic problems and seven (38.8%) of the normal esotropes. Unilateral medial recessions and/or inferior oblique recessions were performed on six patients. At last follow-up, orthophoria (+/- 10 delta) was present in 16 (55.2%) neurologically impaired patients and 15 (83.3%) normal esotropes (p less than 0.05 by the normal deviate (z) test). Seven (24.1%) neurologically impaired patients had residual esotropia, while consecutive exotropia was present in six (20.7%) patients. Among normal esotropes, residual esotropia was found in one patient and consecutive exotropia in two (11.1%) patients. DVD's occurred in nine patients while four subjects developed a postoperative accommodative component.
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PMID:Infantile esotropia: results in the neurologic impaired and "normal" child at NCMH (six years). 395 Aug 44

An 8-year-old revealed the karyotype 46,XX,del(1)(q21 leads to q25). Both parents had normal chromosomes. The patient showed the following findings: underweight at birth, severe growth deficiency (at 7 9/12 years, length, weight and head circumference were at the levels of 24, 18 and 6 months, respectively), delayed bone age; bilateral cleft lip and cleft palate; a pattern of facial dysmorphic stigmata including a short, bulbous nose, exotropia, anisocoria, absence of some teeth, poorly modeled auricles; very small hands and feet with short fingers and toes, and broad thumbs and big toes exhibiting dysplastic, hyperconvex nails; in radiographs multiple phalangeal cone-shaped epiphyses, bifid terminal phalanges of the thumbs and half-moon shaped terminal phalanges of the big toes and absence of the 12th ribs. The patient suffered from seizures and from recurrent otitis and pyuria. Motor and mental development were profoundly delayed: at 8 years she was unable to sit up, had no speech and barely responded to her environment. As the proband and her parents were Fya/Fyb, location of the Duffy locus on segment 1q22 leads to 1q24 can be excluded.
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PMID:Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies. 693 55

A nine-week-old Caucasian male presented with right ptosis and right exotropia due to a third cranial nerve palsy. Symmetrical macular lesions and a paramacular hyperpigmented lesion with overlying vitreous cells in the left eye were compatible with congenital toxoplasmosis. Computer tomography demonstrated calcifications in the periventricular and midbrain regions where the oculomotor nerve exits the brainstem. The diagnosis was confirmed by the toxoplasma indirect fluorescent antibody titer greater than 1:2048 for the infant and greater than 1:512 for the mother. Treatment was instituted with pyrimethamine, sulfadiazine and folinic acid. Neurologic sequelae included a right hemiparesis, infantile seizures, and generalized developmental delay. A Mueller's muscle resection (RUL) combined with 9-mm recession of the right lateral rectus and 7-mm resection of the right medial rectus muscles produced minimal ptosis and right exotropia one year later. the child now prefers to fix with the right eye and a vertical nystagmus is evident in the left eye. To our knowledge this is the first reported case of an infant with noncomitant strabismus due to congenital toxoplasma cranial nerve involvement. The finding of an acquired third cranial nerve palsy accompanied by progressive neurologic sequelae warrants consideration of congenital toxoplasmosis.
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PMID:Congenital toxoplasmosis associated with acquired oculomotor nerve (CN III) palsy. 717 24

Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was developing normally. All of the children had severe visual impairment and nystagmus. Pupillary responses varied. Ocular deviations included one with exotropia and three with esotropia. The extent of pituitary hormone deficiency varied. One child was symptomatic from birth, having severe hypoglycemia and seizures. Two children had prolonged neonatal jaundice. One unusual case had growth hormone deficiency with a normal growth curve. Another child with diabetes insipidus had dehydration and polyuria without polydipsia.
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PMID:Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism. 735 76

Defects in the assembly of dolichol-linked oligosaccharide or its transfer to proteins result in severe, multi-system human diseases called Type I congenital disorders of glycosylation. We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase (GPT) activity encoded by DPAGT1. The patient presents with severe hypotonia, medically intractable seizures, mental retardation, microcephaly, and exotropia. Metabolic labeling of cultured dermal fibroblasts from the patient with [2-(3)H]-mannose revealed lowered incorporation of radiolabel into full-length dolichol-linked oligosaccharides and glycoproteins. In vitro enzymatic analysis of microsomal fractions from the cultured cells indicated that oligosaccharyltransferase activity is normal, but the GPT activity is reduced to approximately 10% of normal levels while parents have heterozygous levels. The patient's paternal DPAGT1 allele contains a point mutation (660A>G) that replaces a highly conserved tyrosine with a cysteine (Y170C). The paternal allele cDNA produces a full-length protein with almost no activity when over-expressed in CHO cells. The maternal allele makes only about 12% normal mature mRNA, while the remainder shows a complex exon skipping pattern that shifts the reading frame encoding a truncated non-functional GPT protein. Thus, we conclude that the DPAGT1 gene defects are responsible for the CDG symptoms in this patient. Hum Mutat 22:144-150, 2003.
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PMID:Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. 1287 55

Rathke cleft cysts are commonly found on autopsy but are seldom symptomatic. Conventional treatment of these lesions consists of transsphenoidal drainage with partial excision of the cyst, and recurrence is rare. Alternatively, the instillation of absolute alcohol into the cyst has been described in several reports, with no complications. The authors report on a woman with Rathke cleft cyst that recurred three times after the initial treatment; the lesion was treated with alcohol cauterization on the final recurrence with devastating complications. This 51-year-old woman presented in 1992 with headaches and visual disturbances. Admission magnetic resonance imaging revealed a sellar/suprasellar lesion that was treated with conventional surgery and was subsequently confirmed to be a Rathke cleft cyst. The patient again presented with recurrence of the cyst at 22, 26, and 31 months after the initial presentation. On the final recurrence the cyst was treated with alcohol cauterization. Postoperatively, the patient awoke blind and suffered a seizure from leakage of the alcohol. The patient remains completely blind in both eyes and is also anosmic and has left lid ptosis and exotropia, which signify damage to the first through third cranial nerves. Rathke cleft cysts have been known to recur after primary surgery; however, this is the first report of a single cyst recurring three times despite conventional surgical treatment. Additionally, this is the first report in which devastating complications from alcohol cauterization of the cyst have been described. The authors therefore advocate caution when attempting alcohol cauterization and advise that meticulous care be taken to ensure the patency of the cyst.
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PMID:Devastating complications from alcohol cauterization of recurrent Rathke cleft cyst. Case report. 1520 Jan 27

Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history of unilateral nasal discharge since birth and seizures since age 1 week. She was microcephalic and there was visual impairment. A fleshy mass of the left nostril was noted. Ophthalmological evaluation revealed left exotropia, dysplastic optic discs and retina, 'morning glory' appearance of the left optic disc, and bilateral chorioretinal lacunae. Magnetic resonance imaging of the brain showed absence of the corpus callosum, dysmorphic changes of the lateral ventricles, a superiorly located third ventricle, heterotopic grey matter of the frontal lobes, a left nasoethmoidal cephalocele, and closed lip schizencephaly of the left frontal lobe. This female infant developed asymmetric infantile spasms at age 8 weeks. Surgical correction of the cephalocele was declined. She developed recurrent pneumonias secondary to aspiration of feeds and died at age 8 months during one of these events.
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PMID:Aicardi syndrome associated with anterior cephalocele in a female infant. 1751 34

Abnormalities of deep cerebellar nuclei in Joubert syndrome have been previously reported only in rare autopsy cases. Epilepsy in association with Joubert syndrome is also rarely reported. In two new cases of patients with Joubert syndrome, bilateral hypoplasia of deep cerebellar nuclei was detected in vivo by magnetic resonance imaging. One of the patients had drug-resistant epilepsy. Both patients received clinical examination, electroencephalography, neuropsychologic testing, and high-resolution magnetic resonance imaging (1.5 T). Patient 1, a 7-year-old boy, had muscular hypotonia, periodic tachypnea, mild ataxia, global developmental delay, exotropia, and polydactyly. Patient 2, a 23-year-old woman, had muscular hypotonia, epilepsy with pharmacoresistant generalized tonic-clonic seizures, learning disability, esotropia, and mild gait ataxia. Abnormalities of deep cerebellar nuclei might contribute to the pathophysiology of epilepsy in patients with Joubert syndrome.
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PMID:Hypoplasia of deep cerebellar nuclei in joubert syndrome. 1943 86

Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of proteins. CDG-Ij (DPAGT1-CDG) is caused by a defect of the human DPAGT1 (UDP-GlcNAc: Dolichol Phosphate N-Acetylglucosamine-1-Phosphotransferase), catalyzing the first step of N-linked glycosylation. So far the clinical phenotype of only one CDG-Ij patient has been described. The patient showed severe muscular hypotonia, intractable seizures, developmental delay, mental retardation, microcephaly and exotropia. Molecular studies of this patient revealed the heterozygous mutation c.660A>G (Y170C; paternal) in combination with an uncharacterized splicing defect (maternal). Two further mutations, c.890A>T (I297F) and c.162-8G>A as a splicing defect were detected when analyzing DPAGT1 in two affected siblings of a second family. We report two new patients with the novel homozygous mutation, c.341C>G (A114 G), causing a severe clinical phenotype, characterized by hyperexcitability, intractable seizures, bilateral cataracts, progressive microcephaly and muscular hypotonia. Both our patients died within their first year of life. With the discovery of this novel mutation and a detailed clinical description we extend the clinical features of CDG-Ij in order to improve early detection of this disease.
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PMID:Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. 2230 30

Introduction Orbital meningoencephalocele formation is primarily a result of congenital defects in the pediatric population and trauma of the anterior cranial fossa in adults. We present a unique case of nontraumatic nasal and orbital meningoencephaloceles presenting as bilateral proptosis with exotropia secondary to chronic hydrocephalus. Clinical presentation A 20-year-old male with a history of tuberous sclerosis, X-linked intellectual disability, and epilepsy presented to the emergency department with two days of nausea, emesis, seizures, and two months of progressive proptosis. Initial radiographs of the skull showed a "copper beaten" appearance, indicating chronically elevated intracranial pressure. Computed tomography imaging of the head demonstrated bilateral defects in the cribriform plate and anterior cranial fossa. Magnetic resonance imaging of the brain revealed triventricular hydrocephalus with meningoencephalocele extension into the nasal cavity and frontal horn herniation into the extraconal space of the orbits. The hydrocephalus was managed with ventriculoperitoneal shunt placement with rapid and complete resolution of the proptosis. Conclusion No reports have described bilateral proptosis as the presenting finding of orbital and nasal meningoencephaloceles in the absence of trauma or congenital defect. This case study demonstrates the management of meningoencephalocele formation secondary to chronic hydrocephalus.
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PMID:Orbital and nasal meningoencephaloceles secondary to chronic hydrocephalus: A rare cause of bilateral proptosis. 2988 88


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