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

Schizencephaly is a rare congenital anomaly of the brain, characterized by formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It often manifests with partial seizures, mental retardation and hemiparesis. Only two cases of schizencephaly associated with psychosis have been reported in the literature. A patient of schizencephaly, who had bipolar affective disorder is described. It has been compared with the earlier two reported cases of schizencephaly associated with pyschosis.
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PMID:Schizencephaly associated with bipolar affective disorder. 1213 87

Hemimegalencephaly is a rare cerebral malformation that usually presents with mental retardation, controlateral hemiparesis and intractable seizures. We report a case of hemimegalencephaly diagnosed in adulthood based on MRI findings. The electroencephalogram initially suggested partial status epilepticus. The diagnosis of this cerebral malformation has been made easier thanks to recent progress in cerebral imagery with MRI. We describe and discuss the relevant encephalographic aspects.
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PMID:[Hemimegalencephaly: a misleading EEG tracing]. 1238 29

We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51 children with either unilateral PMG or closed-lip SCHZ were selected through neuroradiological analysis for investigation at our service. We evaluated the frequency of epilepsy, electroclinical features and evolution. The mean time of follow-up was 7 years (range 1-12 years). All patients underwent neurological examination, computed tomography scan and magnetic resonance imaging, serial electroencephalographic (EEG) recordings and neuropsychological assessment. Thirty-six of the 51 patients had unilateral PMG. All patients had hemiparesis with mild spasticity. Mental retardation was mild in 20 and moderate in 14. In two patients IQ was normal. Partial motor seizures were recorded in 28 patients, with secondary generalization in 20. The median age at onset of seizures was 2 years (range 4 months-7 years). Interictal EEGs showed unilateral spikes in all patients. In 21 patients epilepsy worsened between the ages of 4 and 8 (mean 5.6 years) with frequent atonic seizures, atypical absences, epileptic negative myoclonus and gait difficulties. EEGs showed continuous spike-wave activity or bilateral high-frequency spike discharges during slow-wave sleep. Frequent relapses of atonic and myoclonic seizures were seen in nine patients. At present, 16 patients are seizure-free. Fifteen patients with unilateral SCHZ were included in the study. Focal motor seizures were registered in seven cases, in three of them with secondary generalization. The median age at onset of epilepsy was 2.5 years (range 1-4 years). Interictal EEGs showed unilateral spikes in these seven cases. All patients except one presented mild spastic hemiparesis. Mental retardation was mild in ten children, moderate in two and IQ was normal in three. Although the underlying mechanisms leading to PMG and SCHZ are probably similar, the electroclinical phenomenon of secondary bilateral synchrony with frequent negative myoclonus was not present in our cases with unilateral closed-lip SCHZ.
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PMID:Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. 1503 Sep 2

Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis and mental retardation. We report the clinical and imaging features in two patients with epilepsy revealing a Dyke-Davidoff-Masson syndrome. Brain MRI showed unilateral loss of cerebral volume with hypertrophy and hyperpneumatization of the paranasal sinuses and mastoid cells. Ipsilateral fronto-parietal polymicrogyria was present in one patient.
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PMID:[Dyke-Davidoff-Masson syndrome: a report of two cases]. 1579 14

The so-called Dyke-Davidoff-Masson syndrome (DDMS) is a rare disorder of cerebral hemiatrophy. The clinical presentation may consist of facial asymmetry, contralateral atrophy (including the trunk, and the extremities) and hemiparesis, speech difficulties, mental retardation, and epilepsy. Because it involves multiple systems, especially problem of the airway, occult myopathy, and seizure disorder, anesthesia for such a patient is a challenge to any anesthesiologist. However, there are no clinical reports which concern the anesthetic management of such patients in the literature. We herein report a 5-year-old girl, a sufferer of DDMS, scheduled for burr trephination. The successful anesthetic management is brought forward with highlights of inference from the experience.
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PMID:Anesthetic approach to the Dyke-Davidoff-Masson syndrome--a case report. 1586 6

We surveyed Japanese patients with hemimegalencephaly by means of a questionnaire. Clinical findings, including intellectual and motor function levels and epileptic symptoms, were investigated. All 44 patients (28 males and 16 females) with hemimegalencephaly were sporadic. Sixteen patients had underlying neurocutaneous syndromes. The number of patients with right-sided hemimegalencephaly (n = 29) was almost twice that of patients with left-sided hemimegalencephaly (n = 15). Forty-one patients had mental retardation and hemiparesis and 14 patients were bedridden. All patients had epileptic seizures, which first appeared within a month in 18 cases and within 6 months in 11 cases. In 42 patients, magnetic resonance imaging revealed both cortical and white-matter abnormalities in the affected hemisphere. Antiepileptic drugs were not very effective. Fifteen patients were surgically treated. Eleven patients underwent functional hemispherectomy, which resulted in fairly good seizure control and improved development. There is a correlation between the onset of epilepsy and the degree of clinical severity of motor deficit and intellectual level. Neither underlying disorders nor laterality of the affected side was related to the degree of clinical severity.
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PMID:Clinical aspects of hemimegalencephaly by means of a nationwide survey. 1592 Dec 36

The prognosis for intellectual development in children with symptomatic infantile spasms is usually poor. We report a 9-year-old boy with a history of a large, presumed perinatal, left middle cerebral artery infarct discovered when he developed infantile spasms at 6 months of age. The infantile spasms responded to treatment with adrenocorticotropic hormone. He attained cognitive milestones at normal times, requiring only speech therapy for dysarthric speech. At 9 years of age, he has seizures and a severe right hemiparesis but is an articulate honor roll student in advanced English classes. The development of infantile spasms after large-branch middle cerebral artery stroke does not always predict future mental retardation.
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PMID:A 9-year-old boy with a history of large perinatal stroke, infantile spasms, and high academic achievement. 1596 31

Dyke-Davidoff-Masson syndrome is clinically characterized by hemiparesis, hemiplegia, seizures, mental retardation, and facial asymmetry secondary to congenital or early childhood vascular insult. A 21-year-old man with Dyke-Davidoff-Masson syndrome presented with uncontrolled seizures. The authors present the magnetic resonance (MR) and positron emission tomography (PET) findings of this syndrome.
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PMID:Positron emission tomography in Dyke-Davidoff-Masson syndrome. 1610 Apr 87

Sturge - Weber syndrome (SWS) is a rare disorder that occur with a frequency of approximately 1 per 50,0001. It isa neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. The hallmark is intracranial vascular angioma, most often involving the occipital and posterior parietal lobes, but it can also affect the other cortical regions. An ipsilateral facial cutaneous vascular malformation (port wine nevus)usually affects the upper face. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis,mental retardation and delayed developmental milestones. This article reports a case of 8 years old boy who presented with weakness of right half of body since birth, mental retardation and delayed developmental milestones. Clinical examination revealed deep purple nevus on left lower face, and less power of left upper & lower limbs.X-ray skull showed calcification. C.T. Scan of brain revealed curvilinear calcification with focal atrophy.
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PMID:Sturge - Weber syndrome. 1638 55

Biliary atresia (BA) is a rare disease, characterized by progressive and obliterative cholangiopathy, and is one of the major causes of secondary vitamin K deficiency in infancy. We describe 15 infants (10 female, 5 male) with BA, presenting with intracranial hemorrhage (ICH), including 10 subdural hemorrhages, 4 subarachnoid hemorrhages, 2 intraventricular hemorrhages, and 1 intraparenchymal hemorrhage. The age at onset of ICH ranged from 26 to 79 (mean 54.2) days. Eight patients underwent successful surgical evacuation of ICH, following administration of vitamin K. All 15 patients underwent Kasai portoenterostomy for BA 8-30 days after onset. During a mean follow-up period of 86.8 (range 2-352) months, 4 patients died of liver failure despite lack of neurological sequelae. Two patients underwent living-related donor and 1 patient living-unrelated donor liver transplantation. Only 2 patients suffered neurological signs and symptoms, including mental retardation and epilepsy, whereas 3 were noted to have temporary hemiparesis which recovered completely during the follow-up period. The possibility of BA should be considered in the treatment of ICH due to vitamin K deficiency, since it is reported to be one of the major causes of secondary vitamin K deficiency. Urgent surgical intervention for ICH can be performed successfully following sufficient administration of vitamin K or fresh frozen human plasma. Moreover, early performance of Kasai portoenterostomy is possible even for patients who have undergone craniotomy.
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PMID:Intracranial hemorrhage and vitamin K deficiency associated with biliary atresia: summary of 15 cases and review of the literature. 1704 16


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