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)

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

MELAS syndrome is a form of mitochondrial myopathy with manifestations of seizure, stroke-like syndrome, lactic acidosis, ragged red muscle fibres and mitochondrial encephalopathy. The syndrome has been reported in association with a variety of endocrine and metabolic disorders including diabetes mellitus (DM), hypothalamo-pituitary hypofunction, hypothalamic growth hormone deficiency and delayed puberty. Mitochondrial DNA (mtDNA) point mutation may be the major pathological defect. However, association of MELAS syndrome with hyperthyroidism has not previously been reported. A case is reported from Taiwan of a 32-year-old woman suffering from MELAS syndrome with associated DM and hyperthyroidism. When the latter was diagnosed in April 1988, the patient underwent subtotal thyroidectomy. There was no family history of thyroid disease. Because of repeated seizures, she had computed tomography (CT) and magnetic resonance imaging (MRI) of the brain which showed focal, low-density lesions over the cerebral hemispheres. Both serum and cerebral spinal fluid lactic acid levels were elevated. Mild elevations of serum T4 and T3 and a high titre of TSH receptor antibody were still present. Hyperglycaemia was noted during hospitalization and DM confirmed by oral glucose tolerance test. Muscle biopsy showed ragged red fibres. DNA analysis showed an A-to-G transition at the 3243rd nucleotide position of the tRNA(Leu(UUR)) gene of the mtDNA from the patient. Quantitative polymerase chain reaction (PCR) and restriction analysis revealed that about 60% of the blood mtDNA was of mutant type. The patient received antithyroid drugs for hyperthyroidism, diet control for DM and anti-epileptic drugs for seizure.
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PMID:MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. 755 21

Growth hormone deficiency (GHD) associated with and secondary to asphyxiating perinatal events is a well-established disorder of childhood. However, hypoglycaemic fits due to GHD in children with cerebral palsy simulating symptomatic epilepsy do not seem well-recognized in literature. Within one year we have encountered two boys with cerebral palsy, one aged three and the other six years, who exhibited growth retardation and hypoglycaemic episodes. Both had suffered perinatal asphyxiation. Both had seizures which did not respond properly to antiepileptic drugs. Provocative tests (sleep and clonidine) disclosed GHD. Following growth hormone therapy, fits and hypoglycaemic episodes disappeared, and the children resumed normal growth.
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PMID:[Hypoglycemia caused by growth hormone deficiency. Two cases in children with cerebral paresis]. 774 Jun 30

The logistic difficulties of using fractionated total body irradiation (TBI) in the youngest children often limit the choice to single fraction TBI (sfTBI) or non-TBI-based regimens. We retrospectively evaluated 44 such children ( < 7 years) conditioned with either sfTBI (n = 26) or busulphan-cyclophosphamide (Bu-Cy) (n = 18), transplanted for hematological malignancies between 1988 and 2001. Both neutrophil and platelet engraftment were faster in the sfTBI group with a similar incidence of graft failure (6.8%). Acute GVHD (graft versus host disease) grade 2-4 occurred in 38.4% and 38.8% and chronic GVHD in 20% and 15.4% of the patients in the sfTBI and Bu-Cy groups, respectively Grade 2-4 GVHD was associated with reduced risk of relapse (p = 0.03). This finding was more pronounced in high-risk patients with 2/10 relapses in patients with GVHD grade 2-4, compared with 13/18 relapses among those with GVHD 0-1 (p = 0.05). The probability of overall survival was 43.3% in the sfTBI group and 33.3% in the Bu-Cy group (p = 0.6). However, the outcomes for high-risk patients and those with acute lymphoblastic leukemia were better in the sfTBI group. While hypothyroidism, growth hormone deficiency, learning problems and cataract formation were observed only in the sfTBI group, early cardiac toxicity, behavioral problems and seizures were more common in the Bu-Cy group. Thus, where fractionated TBI is not feasible, sfTBI offers improved survival in high-risk children with acute lymphoblastic leukemia compared with Bu-Cy, without an unacceptable increase in early or late toxicity.
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PMID:Outcome of single fraction total body irradiation-conditioned stem cell transplantation in younger children with malignant disease--comparison with a busulphan-cyclophosphamide regimen. 1516 70

We describe a patient with Duchenne muscular dystrophy (DMD) who additionally suffered from intractable seizures, severe mental retardation, and a marked macroglossia. He also had endocrinologic abnormalities consisting of growth hormone deficiency, delayed puberty, and adrenal hypoplasia. We detected a duplication of DMD exon 18 and flanking introns that caused a frame-shift and was not removed by corrective splicing. A coincident mutation in the FKRP gene was excluded by direct sequencing. Complex DNA rearrangements, deletions, and duplications >100 kb were excluded through microarray-comparative genomic hybridization (CGH), although we were not able to exclude a second coincident mutation with certainty. In conclusion, we present a case of DMD that conflicts with current understanding of genotype-phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype.
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PMID:Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. 1714 88

Current guidelines for the diagnosis of adult growth hormone deficiency (GHD) state that the diagnosis must be proven biochemically by provocative testing that is done within the appropriate clinical context. The need for reliance on provocative testing is based on evidence that the evaluation of spontaneous growth hormone (GH) secretion over 24 h and the measurement of IGF-I and IGFBP-3 levels do not distinguish between normal and GHD subjects. Regarding IGF-I, it has been demonstrated that very low levels in patients highly suspected for GHD (i.e., patients with childhood-onset, severe GHD, or with multiple hypopituitarism acquired in adulthood) may be considered definitive evidence for severe GHD obviating the need for provocative tests. However, normal IGF-I levels do not rule out severe GHD and therefore adults suspected for GHD and with normal IGF-I levels must undergo a provocative test of GH secretion. The insulin tolerance test (ITT) is the test of choice, with severe GHD being defined by a GH peak less than 3 microg/l, the cut-off that distinguishes normal from GHD adults. The ITT is contraindicated in the presence of ischemic heart disease, seizure disorders, and in the elderly. Other tests are as reliable as the ITT, provided they are used with appropriate cut-off limits. Glucagon stimulation, a classical test, and especially new maximal tests such as GHRH in combination with arginine or GHS (i.e., GHRP-6) have well-defined cut-off limits, are reproducible, are independent of age and gender, and are able to distinguish between normal and GHD subjects. The confounding effect of overweight or obesity on the interpretation of the GH response to provocative tests needs to be considered as the somatotropic response to all stimuli is negatively correlated with body mass index. Appropriate cut-offs for lean, overweight, and obese subjects must be used in order to avoid false-positive diagnoses of severe GHD in obese adults.
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PMID:Growth hormone levels in the diagnosis of growth hormone deficiency in adulthood. 1742 91

Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum, and pituitary-hypothalamic dysfunction such as growth hormone deficiency. The phenotype is highly variable and the clinical presentation may be mild or extremely severe. Other distinct features, which occur especially when cerebral cortical abnormalities are also present (SOD-plus), consist of significant generalized developmental delay and/or spastic motor deficits. We report a case of SOD-plus with mild cortical dysplasia which was revealed to be thickening of bilateral insular cortex without schizencephaly by MRI, and there was no sign or symptom of cortical dysfunction except for one episode of brief seizure.
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PMID:A patient with septo-optic dysplasia plus. 1776 Nov 98

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) falls within a group of pediatric disorders with both respiratory control and autonomic nervous system dysregulation. Children with ROHHAD typically present after 1.5 years of age with rapid weight gain as the initial sign. Subsequently, they develop alveolar hypoventilation, autonomic nervous system dysregulation, and, if untreated, cardiorespiratory arrest. To our knowledge, this is the first report of discordant presentation of ROHHAD in monozygotic twins. Twin girls, born at term, had concordant growth and development until 8 years of age. From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including obesity, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker. Results of genetic testing for PHOX2B (congenital central hypoventilation syndrome disease-defining gene) mutations were negative. With early recognition and conservative management, the affected twin had excellent neurocognitive outcome that matched that of the unaffected twin. The unaffected twin demonstrated rapid weight gain later in age but not development of signs/symptoms consistent with ROHHAD. This discordant twin pair demonstrates key features of ROHHAD including the importance of early recognition (especially hypoventilation), complexity of signs/symptoms and clinical course, and importance of initiating comprehensive, multispecialty care. These cases confound the hypothesis of a monogenic etiology for ROHHAD and indicate alternative etiologies including autoimmune or epigenetic phenomenon or a combination of genetic predisposition and acquired precipitant.
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PMID:Monozygotic twins discordant for ROHHAD phenotype. 2180 98

Growth hormone deficiency (GHD) is a well-recognized clinical syndrome in adults. However, due to the high frequency of normal serum IGF-I levels in hypopituitary adults with GHD, it is now widely accepted that despite normal levels of total IGF-I, adults clinically suspected with GHD within the appropriate clinical setting must undergo GH provocative testing to confirm its diagnosis. Although the insulin tolerance test (ITT) is labor intensive, contraindicated in the elderly and in adults with seizure disorders and ischemic heart disease, can be unpleasant for the patient, and is potentially hazardous, this test remains the gold standard test for the biochemical demonstration of GHD in adults. In contrast, with the unavailability of the GHRH and arginine test as the alternative test to the ITT in the United States since 2008, the glucagon stimulation test (GST) has since been increasingly used in the United States because of its availability, reproducibility, safety, lack of influence by gender and hypothalamic cause of GHD, and relatively few contraindications. In this paper, we discuss our recommendations in performing this test, the potential drawbacks in conducting and caveats in interpreting this test, and its future perspectives.
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PMID:Glucagon stimulation testing in assessing for adult growth hormone deficiency: current status and future perspectives. 2236 84

A 9-year-old boy presented with recurrent episodes of hypoglycemic seizures. He had classical facies and body asymmetry suggestive of Russell-Silver syndrome. On evaluation, he was found to have ketotic hypoglycemia with growth hormone deficiency.
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PMID:Peripubertal hypoglycemia--an unusual cause. 2257 Sep 77


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