Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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