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)

The intracranial haemorrhages presented within a group of 64 haemophiliacs along 25 years were revised. During this period, 10 such episodes were seen in 8 patients with haemophilia A; six of them appeared in children under 10 years of age. In five instances there were traumatic antecedents, whereas in the remaining five the haemorrhage was spontaneous, no vascular abnormalities being demonstrated in these last. The lesions observed were: intracerebral haematoma in three instances, subdural haematoma in four, subarachnoid haemorrhage in two cases and cerebellar haematoma in one case. Only one of the episodes was lethal, death being related with infectious complications. Recurrences were observed in two patients. Two patients had sequelae with seizures, plus mental retardation and motor deficit in one of them. Substitutive therapy shows capable of controlling this severe complication of haemophilia, provided it is started promptly and fair rates of factor VIII are maintained. Such therapy must be kept for longer periods in these patients with traumatic antecedents.
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PMID:[Intracranial hemorrhage in hemophiliacs. Study of 10 episodes]. 158 36

Forty-three patients with vein of Galen aneurysmal malformations (VGAM) referred to us for endovascular treatment between 1985 and 1990 and 335 additional cases published in the literature were reviewed with particular attention to the presence of ventricular enlargement and outcome after shunting. Hydrocephalus was the second most frequent symptom (46.8%); it is more frequent in infants (73%) than in children, adults (30%) or neonates (15%). Of the patients reported in the literature, 17.9% had undergone shunting. Within the shunted population there was an overall morbidity of 41% and a mortality of 10% (especially in the infant group). In our series 17 patients (39.5%) were shunted and a significant difference in the clinical outcome was noted between the shunted and the nonshunted group. Of the nonshunted patients, 66.6% were free of any neurological deficit or mental retardation and fewer than 5% presented with significant mental retardation. On the other hand, only 33.3% of the shunted patients had a favorable outcome and more than 15% developed significant mental retardation. Among the various causes of hydrocephalus in patients with VGAMs, such as obstruction of the aqueduct, subarachnoid hemorrhage, or ex vacuo hydrocephalus, high venous pressure may be of particular importance. In this article a physiopathological interpretation of the hydrodynamics in VGAMs is developed and a speculative explanation for CSF disorders related to ventricular shunting proposed. Treatment of hydrocephalus in VGAMs can be achieved through obliteration of the malformation or at least diminishing the venous pressure; surgical ventricular shunting does not have to be the first treatment of hydrodynamic disorders associated with VGAMs, especially in infants.
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PMID:Hydrodynamics in vein of Galen malformations. 161 8

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

Ultrasonography or computed tomography scanning of the brain was performed in 10 infants with congenital myotonic dystrophy between the age of 1 day and 2 months, and showed intracranial abnormalities in all. Ventricular dilation was diagnosed in eight (80%), subarachnoid hemorrhage in one, and white matter infarcts in one. The common finding of ventricular dilation is probably related to developmental brain abnormality dating back to fetal life, because it was already present in three infants scanned on the first day of life. Neonatal asphyxia was present in seven infants, associated with intraventricular hemorrhage in two. The relationship between these changes and mental retardation, which is a common feature in this disease, is unclear.
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PMID:Cerebral ventricular dilation in congenital myotonic dystrophy. 330 48

Four patients with pseudobulbar palsy, mental retardation and various degrees of speech disturbance associated with perinatal difficulties are described as having an acquired type of opercular syndrome. There were two patients with fetal bradycardia and three with subarachnoid haemorrhage and neonatal convulsion. Magnetic resonance imaging revealed cortical atrophy in the bilateral opercula with some signal abnormalities in the underlying white matter in common. Single photon emission computed tomography (SPECT) also confirmed the presence of hypoperfusion in the regions. Although the opercular syndrome is a clinical entity with a multitude of underlying pathologies, perinatal difficulties could be an important cause of the acquired type.
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PMID:Bilateral opercular syndrome caused by perinatal difficulties. 1072 99