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)

Sturge-Weber syndrome is one of the neurocutaneous syndromes. It is a rare, nonfamiliar disease that is characterized by facial port-wine stain, leptomeningeal angiomatosis, choroidal angioma, buphthalmos, intracranial calcification, cerebral atrophy, mental retardation, glaucoma, seizures and hemiparesis. CT and MR are complementary in the evaluation of this disease. Epilepsy is an essential feature of Sturge-Weber syndrome and it has a major significance for prognosis and treatment. We report a 2-year-old boy with Sturge-Weber syndrome who had in addition an intracranial lipoma, a temporal arachnoid cyst and a porencephalic cyst. This combination of intracranial lesions with Sturge-Weber syndrome has not been previously reported.
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PMID:Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions. 1766 Sep 41

Familial hemiplegic migraine (FHM) is a severe dominant form of migraine with aura associated with transient hemiparesis. Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, epileptic seizures and mental retardation. The sporadic form of hemiplegic migraine named SHM, presents with identical clinical symptoms. Here we report a case of a young hemiplegic migraine patient, 11 years old, who had the first hemiplegic attack at the age of 10 years. This patient has a clinical history of epileptic seizures in the childhood successfully controlled with drug therapy. No familiarity for any type of migraine or seizures can be observed within the paternal or maternal line. The patient who can therefore be considered a sporadic case, carries a novel de novo nonsense mutation p.Tyr1009X in the ATP1A2 gene (FHM2), leading to a truncated alpha-2 subunit of the Na+/K+-ATPase pump thus lacking the last 11 amino acids. The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease.
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PMID:A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures. 1864 8

The anterior opercular or biopercular syndrome is a cortical pseudobulbar palsy due to bilateral lesions of the anterior brain operculum. It is characterized by preservation of reflex function and automatic activity, without mental impairment. Two cases are reported herein and the relevant literature reviewed. The first case was a 73-year-old female with a history of a stroke occurring seven years previously, without sequelae in the interim. She presented with sudden loss of consciousness. The neurological examination showed a right facial central palsy and anarthria, with reflex acts such as smiling, blinking and yawning, not elicited by commands; she also had a right hemiparesis and walking impairment. A brain CT scan showed an old ischemic infarction in the region of the right medial cerebral artery. Because the right motor involvement did not correlate with the findings of the initial CT scan, another CT scan two days later showed an acute brain infarction in the vicinity of the left medial cerebral artery. The second case was an 8-year-old girl with mental retardation and impairment of verbal development, caused by of biopercular pachygyria. Facio-pharyngo-glosso-masticatory diplegia and volitional selective palsy of the oro-facial muscles was seen in both patients. The neuropsychological assessment showed cognitive, emotional and social interaction impairment in both cases -as part of the frontal convexity syndrome in the first case and of mental retardation in the second. The two patients had difficulty in mastication and swallowing. The prognosis for recovery of verbal capacity is poor, although generally most patients recover the ability to swallow.
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PMID:[Biopercular syndrome: report of two cases and literature review]. 1871 20

Dyke Davidoff Masson syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. We report a case of DDMS in an 18-month-old girl who presented with right sided focal seizures, hemiparesis of the same side, and delayed milestones.
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PMID:Dyke-Davidoff-Masson syndrome. 1902 69

The Dyke-Davidoff-Masson syndrome is characterized by various symptoms related to hemiatrophy of the cerebrum and hypertrophy of the ipsilateral calvarium and paranasal sinuses. Clinical findings include hemiparesis or hemiplegia, seizures and/or mental retardation. The present report discusses the very unusual case of a late-diagnosed Dyke-Davidoff-Masson syndrome in a 75-year-old body donor who had suffered a left-sided stroke associated with the internal carotid artery in the course of tonsillitis at the age of 5.
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PMID:Postmortal diagnosis of a Dyke-Davidoff-Masson syndrome in a 75-year-old woman---a case report. 1909 69

Dyke-Davidoff-Masson syndrome is a disorder involving hemiatrophy or hypoplasia of 1 cerebral hemisphere secondary to an insult in the developing brain. Often this will manifest with seizures, hemiparesis, mental retardation, and facial changes. Associated with this pathology are the radiologically evident changes, such as thickening of the calvarium, hyperpneumatization of the sinuses, and dilation of the ipsilateral lateral ventricle among others. The following is a case presentation of an 18-year-old female emigrating from Ghana who presented to the emergency department with complaints of seizures diagnosed as being caused by cerebral malaria at 13 years of age. We hypothesize that the cerebral malaria and related vascular occlusion are the causes of her acquired cerebral changes. Included are computed tomography images.
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PMID:Dyke-Davidoff-Masson syndrome in postcerebral malaria. 1920 21

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.
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PMID:Schizencephaly associated with bipolar II disorder. 1929 19

We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms including right hemiparesis, internal hydrocephalus, mental retardation, progressive deafness, and visual impairment. Treatment starting at age 20 months, including different combinations of immunosuppressive and antiinflammatory drugs such as corticosteroids and anti-TNFalpha antibody, was unsuccessful. Four years ago, we found a heterozygous S595G mutation in the NLRP3 gene of this patient. This prompted us to introduce anakinra, which resulted in considerable improvement of the patient's complaints.
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PMID:Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. 1989 Jul 91

Facial port-wine stains are capillary malformations, which can reveal, very rarely, Sturge-Weber syndrome (SWS). SWS is a severe neurocutaneous syndrome, which involves a facial port-wine stain reaching the first branch of trigeminal nerve (V1), ophthalmologic abnormalities (especially congenital glaucoma) and neurologic signs (seizure, mental retardation, hemiparesis). Neuroimaging (CT-scan/angio-magnetic resonance imaging [MRI]) provides the diagnosis of SWS, when it shows ipsilateral leptomeningeal angioma; the best age to perform the exam is not established. Extension to superior eyelid, to other territories of trigeminal nerve (V2, V3) or to the contralateral hemiface is statistically associated to SWS. When a new-born has a facial port-wine stain reaching V1, ophthalmologic examination must be performed in the first months of life, as well as neuroimaging (at the age of 6-12 months, earlier in case of neurologic signs); a treatment of the port-wine stain by pulsed dye laser must also be considered.
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PMID:[Sturge-Weber syndrome]. 2021 18

Hemiplegic migraine (HM) is a rare and severe subtype of migraine with aura, characterized by some degree of hemiparesis and other aura symptoms. Mutations in three genes (CACNA1A, ATP1A2 and SCN1A) have been detected in familial and, more rarely, in sporadic cases. The disease can be complicated by permanent neurological deficits, the most frequent one being a cerebellar syndrome; in addition, mental retardation has been recognized as part of the phenotypic spectrum. Here, we report a Caucasian male with a novel CACNA1A mutation and an unusual clinical phenotype: the patient, who had had a history of only two HM attacks, sought medical advice at age 49 primarily because of increasing cognitive decline accompanied by cerebellar dysfunction. While common neurodegenerative causes were excluded, neuropsychological evaluation revealed a distinct profile of deficits of a subcortico-prefrontal type as previously reported in patients with cerebellar dysfunction. This suggests a possible causal link between cerebellar and cognitive disturbances in this patient; in addition to these pathophysiological aspects, we review of the role of the cerebellum in cognition.
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PMID:A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline. 2103 46


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