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 3 years old boy was admitted due to recurrent attacks of tetany and carpopedal spasm since one and a half years of age. The tetany lasting for 1-2 minutes in each episode was often preceded by an upper respiratory tract infection and occurred 2-3 times a month. Both birth and family history were unremarkable. Physical findings showed mild psychomotor retardation with positive Chvostek sign. Laboratory examination revealed hypocalcemia, hyperphosphatemia, and low serum parathyroid hormone level. EEG showed abnormal tracing with increased slow waves. Head CT Scan demonstrated symmetrical calcification in the basal ganglia region. The clinical features and laboratory findings were consistent with hypoparathyroidism. The mechanism of calcium deposit in the basal ganglia still remains unclear. Tetany, muscle cramping and seizures secondary to hypocalcemia are the most common neurologic signs which respond quickly to calcium replacement. Subsequent supplemental therapy resolved movement disorders and mental retardation. If early treatment prior to the tetanic episodes is instituted in a patient with hypoparathyroidism, it may prevent the development of complications such as intracranial calcifications, cataract and permanent retardation.
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PMID:[Primary hypoparathyroidism with basal ganglia calcification: report of a case]. 263 91

The authors studied 50 of 55 patients originally hospitalized for primary sedative-hypnotic dependence 4-6 years after hospital discharge. Forty-two (84%) of the patients had resumed using sedative-hypnotics, 26 (52%) were abusing drugs at follow-up, and 21 (42%) had been readmitted for drug abuse. Three patients experienced delirious states and six experienced epileptic seizures associated with withdrawal. Physical signs of alcoholism had developed in 11 (22%); four (8%) had committed suicide. Social deterioration was noted in 24 patients. CAT scan results did not deviate from those found in a matched control sample.
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PMID:A 4-6-year follow-up of 50 patients with primary dependence on sedative and hypnotic drugs. 650 63

The LHRH-secreting hypothalamic hamartoma (HH), a congenital malformation consisting of a heterotopic mass of nervous tissue that contains LHRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle, can cause true or central precocious puberty (TPP). We have suggested that it functions as an ectopic LHRH pulse generator independent of the central nervous system inhibitory mechanism that normally restrains the hypothalamic LHRH pulse generator. TPP associated with a hamartoma has all of the hormonal hallmarks of puberty, including a pubertal pattern of pulsatile LH and a pubertal plasma LH response to LHRH administration. Little is known about the natural history of HH. We present long term data on 10 children (5 females and 5 males) with TPP due to HH. Physical signs of puberty were observed at a mean age of 2.2 +/- 1.6 yr (range, 0.5-5.1). Two of 10 had a pedunculated mass, and 8 of 10 had a sessile mass. The hamartoma varied in diameter from 4-25 mm and did not change with time (3.5-8.7 yr). Four patients have a seizure disorder, 3 with gelastic seizures (1 with mental retardation) and 1 with tonic-clonic seizures. The shape of the hamartoma, sessile or pedunculated, did not correlate with the occurrence of seizures. At presentation with sexual precocity, the mean height SD for chronological age was +3.5 +/- 0.4, the mean height SD for bone age was -1.9 +/- 0.4, and the mean bone age SD for chronological age was +6.8 +/- 0.7. Baseline data were comparable to those of 10 females with idiopathic TPP. Nine of 10 HH patients and all idiopathic TPP patients were treated with a LHRH agonist. The response to therapy was excellent in both groups and indistinguishable. Nine of 10 HH children attend school regularly and, aside from those with seizures, have no neurological handicap. While surgical resection of the hamartoma has been recommended, it carries an increased risk of morbidity and mortality and, if removal is incomplete, does not arrest the sexual precocity. In our experience, LHRH agonist therapy for TPP due to HH is the preferable approach.
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PMID:The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history. 832 33

Shaken baby syndrome is a serious form of physical child abuse, which is frequently overlooked. It should be suspected in all children younger than one year of age, who present with drowsiness, coma, seizures or apnoea. A combination of subdural haematomas and retinal haemorrhages with minimal or no trauma and no coagulopathy is almost pathognomonic of the syndrome. The findings are caused by shaking with or without impact. Physical signs of violence are often absent and the syndrome may easily be mistaken for serious infection or seizure disorder. Many cases are fatal or lead to severe disability including blindness, cerebral palsy, mental retardation or epilepsy in about 60% of the children. There are many unresolved problems regarding diagnosis, pathophysiology, treatment, prognosis, prophylaxis and legal actions. We discuss these problems and in addition present eleven children with shaken baby syndrome.
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PMID:[Shaken baby syndrome]. 982 79

"Hysterical" conversion hasn't vanished, and remains a diagnostic, therapeutic and relational challenge for the clinician. Conversion may be associated with organic disease. From the clinical point of view, two subtypes of conversion symptoms, namely psychogenic nonepileptic seizures and functional movement disorders, have been individualized. Physical signs of neurological inconsistency, and classical arguments in favor of a psychological etiology have been recently reevaluated, which allows, along with the progress of neurological investigations, to minimize the rate of misdiagnosis. Functional neuroimaging has shed light on the brain mechanisms involved in conversion phenomena. From a nosological point of view, there is a tension between the whish to "banalize" the conversion symptoms as mere "functional neurological symptoms", which makes easier to communicate the diagnosis to the patient and may remove the stigma from the diagnosis; and the wish of certain authors to "revive" hysteria, emphasizing the core phenomenon of dissociation and its close relationship with trauma. Proposed treatment of conversion disorder are numerous, although poorly evaluated and often insatisfactory, but recent publications insist on the importance of communicating the diagnosis to the patient in a honest, nonjudmental and understandable way, at the earliest phase of the disorder.
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PMID:[Hysterical conversion]. 2322 14

Snyder-Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech. Physical signs seem to evolve from childhood to adulthood. We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X). Apart from the typical features of the syndrome, the index patient presented with an ectopic right kidney and epilepsy from the first year of age that was characterized by focal motor seizures and negative myoclonus. The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of Snyder-Robinson syndrome to include myoclonic or myoclonic-like seizures (starting even in the first years of life) and renal abnormalities in affected males.
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PMID:Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. 2389 7

The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chromosomal analysis showed 46 xx -Bohring-Opitz Syndrome overlapped with C- syndrome. Goal-directed holistic care with integration of parent/carer training was started very early. She succumbed to a Respiratory- Syncitial-Virus and Pseudomonas pneumonia complicated with sepsis at the age of two years and 11 months.
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PMID:Bohring-opitz syndrome - A case of a rare genetic disorder. 2888 39