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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tuberous sclerosis and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 year old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumours and an arteriovenous malformation of the leg. This is the first reported association of the fully-developed symptomatology of tuberous sclerosis and KTW in one person.
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PMID:Tuberous sclerosis and Klippel-Trenaunay-Weber syndromes. Association of two complete phakomatoses in a single individual. 16 20

Three cases of arteriovenous malformations of the vein of Galen were operated on without mortality and morbidity. Postoperative angiography confirmed total occlusion of the fistulas in each case. Microsurgical operation in the parieto-occipital region with interhemispheric approach was performed to cut the numerous feeders. The procedure was terminated when the sac was diminished in size with bipolar coagulation and clipped with encircling clips to preserve the flow through the vein of Galen. In spite of the good surgical results, the long-term outcome in the two pediatric patients was discouraging because of mental retardation caused by the arteriovenous malformation itself.
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PMID:Arteriovenous malformations of the vein of Galen: report of three microsurgically treated cases. 175 88

Since 1984, 43 patients with true vein of Galen aneurysmal malformations have been referred to us and managed according to our patient selection, technique, and follow-up guidelines. Thirty-four were embolized transarterially with bucrilate (isobutyl cyanoacrylate) or enbucrilate (N-butyl cyanoacrylate) embolization. No cutdown or hypotension during or after the embolization was used and no balloon catheter was employed. Forty-seven percent of the children had a completely occluded lesion which was confirmed when the child was at least 6 months of age at the follow-up angiographic examination; 52.9% were found to be completely normal or only to have mild cardiac failure that could be treated medically or moderate macrocephaly without neurological symptoms or mental retardation. In the embolized group 5.8% died as a result of the wrong treatment (1 case) or poor timing of embolization 3 days after ventricular shunting (1 case). The overall mortality (embolized and non-embolized groups) in the neonatal children was 27.7% with a total of 18.6% for all ages. Complete morphological exclusion of the arteriovenous malformation was accomplished in 41.9%; 74.4% of all children referred are now clinically normal or present moderate mental retardation which is diminishing. There was 3% neurological morbidity in the embolized group (only following the venous approach) in 78 sessions and more than 100 arteries embolized. These results compare favorably with surgical or other techniques of arterial embolization (balloon or particles), as well as transvenous (transtorcular or transfemoral) embolization, where the morbidity and mortality are significantly higher and the late clinical evaluation is seldom satisfactory.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Vein of Galen malformation. Endovascular management of 43 cases. 179 15

A boy with linear sebaceous nevus syndrome was followed up to 3 years of age, at which time he died of pneumonia. The lesions of nevus sebaceus were located in the midline and on both sides of the face, and there were partial colobomata of the right outer canthus continuous with pseudopterygium and of the left upper eyelid. At 2 months of age, the patient developed infantile spasms. At 1 year, electroencephalography revealed hypsarrhythmia, and left carotid angiography showed an arteriovenous malformation. At 2 years, the mental retardation and delayed motor development were detected.
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PMID:Linear sebaceous nevus syndrome. 226 82

Fifteen children and adolescents with intracranial arteriovenous malformations are reviewed and their data analyzed; their ages varied between 1 day and 15 years and there was a slight predominance of males (9 male and 6 female patients). In this series, the arteriovenous malformations appeared clinically as cerebral hemorrhage in 9 cases, epilepsy in 3, mental retardation with epilepsy in 1, subarachnoid hemorrhage in 1, and cardiac insufficiency at birth in the other. The diagnostic procedures used were computerized transmission tomography (CTT) of the cerebrum in 14 cases, cerebral panarteriography in 15, and EEG in 4 cases. Treatment took the form of surgery, radiation therapy, or medication. The last was administered to patients with epilepsy, either as a complement to other modes of treatment or as the only treatment. In all, 4 cases died, 2 for reasons to do with their operations, 1 from a lesion of the brain stem in a hematoma of the cerebellum that had not been surgically treated, and the other from an intraventricular hemorrhage 4 months after surgery. In the last patient, necropsy revealed remnants of the arteriovenous malformation. The overall mortality was thus 26% and the surgical mortality, 12.6%. Of the 11 surviving patients only 3 received anticonvulsant drugs; each of them had a good I.Q. and good marks at school, as did the other 8 survivors.
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PMID:Intracranial arteriovenous malformations in infancy and adolescence. 270 71

The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications. From birth he showed partial gigantism of the first two fingers of the right hand associated with an arteriovenous malformation of the ulnar artery and agenesis of the radial artery. The EEG and CT scan studies are also reported. The occurrence of two dysgenetic disorders in one patient as a manifestation of disturbed embryogenesis at a very early stage of development is discussed.
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PMID:Tuberous sclerosis associated with partial gigantism in a child. 340 55

A 34-year-old male developed consciousness disturbance; semicoma, on December 15, 1984, and diagnosed as a thalamic hemorrhage perforating into the ventricular system after a computed tomographical (CT) examination. Angiography revealed an arteriovenous malformation (AVM) in the right posterior thalamic region, which was fed by a posteromedial choroidal artery. He was transferred to our neurosurgical clinic on February 18, 1985. On admission, he was alert, however, disorientation and slight mental retardation were seen as well as Parinaud's sign. Mild left hemiparesis was also detected with equivocal hypesthesia on the left lower limb. The AVM was subtotally removed on March, 12, via transventricular approach after right parietooccipital craniotomy. Consciousness disturbance (drowsy) and left hemiplegia developed after the operation, however, these deteriorations were transient, recovering to the preoperative or better status by 2 weeks after the operation. Postoperative repetitive examinations of the sensory perceptibility of various modalities revealed remarkable disturbance or complete loss of perception in joint and vibration senses (0-3/10 compared to the healthy left side). Touch sensation was also severely deteriorated (0-3/10) on the affected extremities. The disturbances in these modalities of the sensation did not show any trend to improve until the time of discharge on 57th postoperative day. On the other hand, pain and temperature sensations were less remarkably disturbed (5-8/10), and with tendency of gradual improvement. Estimation of the range of lesion by the CT scan with projecting on the Schaltenbrand & Bailey's atlas revealed that the nucleus ventralis caudalis, centre-median nucleus and pulvinar thalami were involved.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Dissociative sensory disturbance after removal of an arteriovenous malformation in the posterior thalamic region]. 379 Mar 63

A rare diffuse arteriovenous malformation (AVM) occurred in an 11-year-old boy with a 4-year history of transient ischemic attacks and weakness of the left extremities. Postcontrast computed tomography (CT) showed cord-like enhancement in the corpus callosum and pineal region. Magnetic resonance (MR) imaging demonstrated atrophy of the right hemisphere and multiple signal voids in the sulci. Cerebral angiography showed a diffuse AVM fed by the bilateral anterior cerebral and right middle cerebral arteries. The AVM nidus consisted of scattered nidi. Several draining veins appeared as multiple signal voids on MR images. No surgery was possible because of the scattered nidi. Left hemiparesis and mental retardation worsened, with progressive atrophy of the right hemisphere on serial MR images. Follow-up radiological examinations showed that the number of nidi increased, the draining vein enlarged, and the gyri calcified. The gyriform calcification on CT scans strongly resembled that seen in Sturge-Weber syndrome.
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PMID:Progressive diffuse arteriovenous malformation--case report. 768 57

A 49-year-old woman with Klippel-Trenaunay-Weber syndrome (KTW) is reported. She had characteristic features of KTW; cutaneous angiomas on her back, left knee and both plantae, varicosities on both legs, and hypertrophy of the left leg. In addition she had rare complications of KTW; asymmetric skull bone, hemicranial hypertrophy, kyphosoliosis, idiopathic hypoparathyroidism, and abnormal length of the dactyl. Her hemicranial hypertrophy was examined by CT scan, MRI and angiography. Her right hemicranial volume was enlarged and her left lateral ventricle was enlarged. The T2-weighted MRI imaging demonstrated high signal intensity beside the right lateral ventricle and in the right basal ganglia. Cerebrovascular anomalies were not revealed. She also had neurological manifestations of KTW that are rarely seen in adult cases; mental retardation, and myelopathy. The anti-HTLV-I antibodies in serum and cerebrospinal fluid were positive, so it was thought for her to have HTLV-I associated myelopathy (HAM). She was treated with peroral prednisolone and alpha-interferon (intramuscular), which improved her ability to walk. It is known that kyphosis sometimes makes the disorder of spinal cord. Although KTW is known to be associated with the spinal arteriovenous malformation, several examinations did not reveal the spinal vascular anomalies in this case. So we think the myelopathy of this case was caused mainly by the kyphoscoliosis and HAM.
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PMID:[A case of Klippel-Trenaunay-Weber syndrome--special reference to myelopathy]. 825 27

Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI and an intracranial arteriovenous malformation (AVM), which has not been previously reported.
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PMID:Arteriovenous malformation in hypomelanosis of Ito. 890 50


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