Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This was a prospective analytical study done from October'99 through December 2000 to observe the clinical profile of epilepsy in children with cerebral palsy. Sixty epileptic children with cerebral palsy were studied and their results were compared with the results of epilepsy in 30 developmentally normal children. Ages of all children studied were 1-15 years. Majority were below five years of age and male out numbered female. Spastic quadriplegia (60%) was the commonest type of cerebral palsy. Generalized tonic-clonic seizure (66%) was the commonest seizure type in both groups. Second most common type of seizure was partial (13%) and myoclonic (29%) in developmentally normal and cerebral palsy children respectively. Mental retardation (63%) and speech delay (58%) were the two common associated problems in cerebral palsy patients. Ventriculomegaly (55%) was the commonest computed tomographic findings in cerebral palsy patients. In electro encephalography generalized epileptiform activity was the commonest finding in both groups. Clinical pattern is different in many ways when epilepsy is associated with cerebral palsy.
 ...
PMID:Epilepsy in children with cerebral palsy. 1474 90

Eyelid myoclonia with absences (EMA) and juvenile myoclonic epilepsy (JME) are two separate epileptic syndromes included in the new classification of epilepsies and epileptic syndromes by ILAE in 2001. Both are idiopathic generalized epilepsies with their clinical onset in the first two decades. EMA is characterized by eyelid myoclonia associated with absences and photosensitivity. Self-induced seizures are frequently seen in EMA. It can be associated with mildly mental retardation and resistance to treatment. JME includes three types of generalized seizures: typical absences, myoclonic jerks and generalized tonic-clonic seizures. The myoclonic jerks occur almost exclusively on awakening, involve preferently the upper extremities, may rarely affect the lower extremities or the entire body. More severe attacks may be accompanied by a fall. The myoclonic jerks occur rarely in EMA. They are usually mild and are freqently restricted to the upper extremities. Generalized tonic-clonic seizures, photosensitivity and generalized polyspike-wave discharges provoked by eye closure are features of both epileptic syndromes. In this study, we describe four female patients with eyelid myoclonia associated with absences, myoclonic jerks causing falling down and rare generalized tonic-clonic seizures. All patients had good school performance and total seizure control under sodium valproate treatment. Their EEGs show generalized polyspike-wave discharges with a frequency of 3.5-6Hz always appearing a few seconds after eye closure and photoparoxysmal response. These patients show the characterictics of both epileptic syndromes. It is clinically important to make a syndromic diagnosis for an optimum advise on treatment, lifestyle restrictions and prognosis. In this study, we have gathered evidence that EMA and JME are dynamic syndromes that tend to evolve into one another.
 ...
PMID:Overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. 1750 53

The 1p36 deletion syndrome is caused by submicroscopic deletion in the subtelomeric region of chromosome 1. Epilepsy is one of the most important features of the syndrome, in addition to the characteristic facial appearance, cardiac anomaly, dysphagia, deafness, mental retardation and growth delay. We identified three patients with this syndrome and assessed the features of complicated epilepsy. In all cases, epilepsy developed during infancy. The seizure types were mainly focal seizure and multiple seizure types including tonic seizure and tonic-clonic seizure. Interictal electroencephalogram showed focal abnormalities. Noticeably, two developed epileptic spasms and hypsarrhythmia in electroencephalogram, just after the administration of carbamazepine (CBZ). Including cases showing epileptic spasms, their epilepsy was easily tractable with anti-epileptic drugs, which could be withdrawn as they aged. All had deleted potassium channel beta subunit (KCNAB2) and gamma-aminobutyric acid A receptor delta (GABRD). CBZ may aggravate various epileptic syndromes, especially, those caused by GABA-A receptor gene mutation. Our cases may suggest the novel correspondence of GABA-A receptor-related epilepsy syndrome and exacerbation of epilepsy triggered by CBZ.
 ...
PMID:[Effect of carbamazepine on epilepsy with 1p36 deletion syndrome]. 1763 87

A 55-year-old man with congenital hemiparesis of the right side, three episodes of generalised tonic-clonic seizure at 16 years of age, and two episodes of severe depression and two episodes of hypomania in the past, presented with severe depression with psychotic symptoms. Computed tomography of the brain showed a grey matter-lined cerebrospinal fluid-filled cleft in the left cerebral hemisphere, involving the temporoparietal region. He was diagnosed to have bipolar II disorder, and was currently severely depressed with psychotic symptoms and schizencephaly. He improved with sodium valproate 1,000 mg/day, quetiapine 450 mg/day and escitalopram 20 mg/day after three weeks without any emergent side effects, and was maintaining well at three months follow-up. Although uncommon, schizencephaly may be considered as one of the differentials in cases of bipolar disorder along with congenital hemiparesis, mental retardation and/or seizures; and neuroimaging should be done to confirm the diagnosis.
 ...
PMID:Schizencephaly associated with bipolar II disorder. 1929 19

Epilepsy and Mental Retardation Limited to Females (EFMR) [OMIM 300088] was first described in 1971 [Juberg and Hellman, 1971] in 15 related females with early onset grand mal seizures and mental retardation. Although EFMR demonstrates X-linked inheritance, it follows an unusual pattern by sparing transmitting males and affecting only heterozygous females. In 2008, mutations within the protocadherin 19 (PCDH19) gene were implicated as causative of EFMR [Dibbens et al. (2008); Nat Genet 40:776-781]. The EFMR phenotype is typically characterized by seizure onset in infancy and mild to severe intellectual impairment. Several individuals with EFMR have also been described as having autistic features. We describe three unrelated female individuals, ranging in age from 3 to 19 years, with de novo novel PCDH19 mutations. All three individuals have seizure onset in infancy and require the use of multiple antiepileptic drugs. They also have varying degrees of intellectual impairment along with the presence of autistic features. Although most individuals with EFMR described to date demonstrate this unusual familial X-linked inheritance, our three unrelated females with de novo mutations highlight the importance of testing PCDH19 in females with early onset epilepsy, intellectual impairment, and autistic features, regardless of family history.
 ...
PMID:Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 2083 Jul 98

Foreign body aspiration in childhood is a common and life-threatening emergency. A 14-year-old male with history of mental retardation was transferred from another center to our hospital with diagnosis of foreign body aspiration. According to the anamnesis, he had been diagnosed with epilepsy a few years ago. Approximately 10 hours before admission, while at home, his parents had urgently placed a wooden spoon in the boy's mouth during a generalized tonic-clonic seizure to avoid possible airway injury. Nevertheless, he had inhaled a large piece of the wood after breaking the handle of the spoon with his teeth. Rigid bronchoscopic evaluation revealed the presence of a large piece of wood sitting vertically 2 cm beyond the glottis. Although bronchoscopic removal of the wooden piece from the trachea was difficult and prolonged, it was successful. Following this process, he presented with subcutaneous emphysema and pneumothorax in the intensive care unit (ICU). After improvement with the aid of chest tube drainage in the ICU, he was discharged from the hospital on the 3rd day of rigid bronchoscopy. Early diagnosis and urgent removal of a foreign body are very important for reducing mortality. However, complications related to the foreign body itself or the bronchoscopy may occur. In conclusion, the physical characteristics, position and location of the foreign body can influence the outcome, even in skilled hands.
 ...
PMID:Iatrogenic aspiration of a large piece of a wooden spoon in a 14-year-old epilepsy patient. 2193 37


<< Previous 1 2