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

Four patients affected with the nevoid basal cell carcinoma syndrome and recurrent seizures are described and the pertinent literature is reviewed. Three of the patients had multiple basal cell carcinomas and cutaneous nevi, dentigerous cysts, and skeletal anomalies characteristic of the syndrome. The seizures had their onset in childhood and were generalized tonic-clonic in three patients and both tonic-clonic and complex partial in the fourth. Focal neurological deficits were found in only one patient. Pneumoencephalography in two patients and head CT scan in a third were negative. Electroencephalography showed focal spike discharges in one patient, bilateral anterior paroxysmal slowing in another, and nonspecific shifting temporal theta transients in the other two cases. Psychometric testing yielded full-scale scores ranging from 39 to 84. In addition to mental retardation, congenital communicating hydrocephalus, and medulloblastoma, seizures should be included among the neurological manifestations of the nevoid basal cell carcinoma syndrome.
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PMID:Nevoid basal cell carcinoma syndrome and epilepsy. 710 17

Cases of nonspecific mental retardation (MR) born in British Columbia between 1952 and 1970 ascertained through the British Columbia Health Surveillance Registry were linked by birth registration number to family sibships from computer-linked groupings of birth and marriage records in British Columbia. It was possible to retrieve family information for 97% of the cases by this method. Because of good ascertainment and relatively large sample size, the 1952-1965 birth cohort comprising 2,209 index cases was selected for calculations of overall risks and recurrence risks to sibs categorized by sex, MR level, associated neurological disability, and singleton versus multiple birth. The overall risk of affected individuals among all sibs was 4.4 +/- 0.6%, which was about ten times greater than the minimum population incidence of nonspecific MR. The risk among subsequent sibs of the first affected case in a family was 3.7 +/- 0.8%. These risks varied depending on sex, MR level, and whether the mental retardation was associated with hydrocephalus, microcephalus, cerebral palsy, or epilepsy. The recurrence risk after two affected individuals was 12 +/- 7%--about three times greater than after one affected individual. Even though the frequency of MR is greater among twins than in the overall population, the recurrence risk of nonspecific MR was not significantly different for index cases from either singleton or multiple births.
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PMID:Sib risks for nonspecific mental retardation in British Columbia. 713 31

The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.
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PMID:Cockayne syndrome. 717 33

Two series of achondroplastic patients were studied. The first series included 5 patients referred to our neurosurgical department for macrocranium and/or mental retardation. The second series was composed of 20 patients arbitrarily chosen from a medical group. Macrocranium was observed in 60% of the patients and was related to hydrocephalus in all but 2 cases. Radiological studies demonstrated that the posterior fossa was deformed and narrowed in its 3 planes, while its volume was conserved because of an abnormal ascension of the tentorium. The conflict between normal brain development and the craniostenosis at the base of the skull is responsible for an upward tilt of the petrous pyramids, a lowering of the mastoid process, and the illusion of a basilar invagination. Ventriculographies, pneumoencephalographies and isotopic transits demonstrated normal CSF circulation. The study suggests that hydrocephalus is related to the stenosis of the sigmoid sinus at the level of narrowed jugular foramina with a resulting raise in intracranial venous pressure. The majority of patients with macrocranium stabilizes spontaneously. Thus, a surgical indication should be extremely limited.
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PMID:Hydrocephalus and achondroplasia. A study of 25 observations. 743 42

A case of cranio-facial dysostosis (Crouzon's disease) associated with enlarged head due to hydrocephalus was reported with special reference to the mechanism of the hydrocephalus. A 2-year-old boy who complained of mental retardation was admitted on Dec 78' when choked disc and dilatation of the lateral ventricle shown on CT scan were also seen. Characteristic signs of hypertelorism, exophthalmos, hypoplastic maxilla and mandibular prognathism indicating cranio-facial dysostosis (Crouzon's disease) were noted on admission. There were no indicative findings of cranial sutures at all on plain skull film, which was seen on previous film at the age of 11 months. Craniometry on plain film indicated narrowed basal angle and shortening of both anterior and posterior cranial fossas. A moderate symmetrical dilatation of the lateral and third ventricle with normal ranged forth ventricle were shown on CT scan. RI cisternography using 111In was normal without ventricular reflex or subarachnoid block. Choked disc was gradually disappeared following shunting operation performed on Dec. 28, 1978. PVG demonstrated the stenosis and ventral displacement of the aqueduct at the site 7 mm from the outlet of the third ventricle. Poststenotic dilatation for 4 mm in width was also noted. These findings suggested that maldevelopment of the enchondral bone at the skull base in cranio-facial dysostosis produced bending of the aqueduct leading to obstructive hydrocephalus as seen in the case.
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PMID:[A case of cranio-facial dysostosis (Crouzon's disease) associated with hydrocephalus (author's transl)]. 745 40

We came across some cases clinically suggestive of intrauterine infection which were confirmed to be congenital cytomegalovirus infection. A clinical profile of these patients is presented. Intracranial calcification was not seen in any of these patients. Mental retardation was profound in all the patients and all had hepatomegaly. Uncommon findings encountered included hydrocephalus, patent ductus arteriosus and corneal opacities. Other clinical findings and investigation are also discussed.
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PMID:Congenital cytomegalovirus infection in Shimla Hills, Himachal Pradesh, India. 763 48

Proteus syndrome is a rare hamartomatous syndrome with a variety of abnormalities. A 6-year-old Japanese boy without apparent abnormalities at birth developed by 1 year of age cerebriform skin tumors on the right sole, soft masses on the left sole, palms and fingers, brownish verrucous lesions and whorled brownish patches on the right side of the neck, chest, external genitals and extremities, hemihypertrophy of the right lower extremity, lordoscoliosis, protuberance of the skull, epileptic seizures, hydrocephalus and mental retardation. This patient appears to be the second Japanese case of Proteus syndrome.
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PMID:Proteus syndrome. 787 27

Twenty infants aged 2 weeks to 3 months with the diagnosis of bleeding disorder secondary to low prothrombin complex level were studied. Sixty children of the control group were matched to the cases by age +/- 2 weeks, sex and race. The ratio of boys to girls was 2.3:1. The median, mean, and range of age of the cases and controls were 43.5 days, 43.7 days, 21-73 days and 43.5 days, 46.8 days, 26-28 days respectively. Most of them were pale with a mean hematocrit of 23.55%. The partial thromboplastin time and prothrombin time were markedly prolonged. The means of vitamin K dependent coagulation factors II, VII, IX and X were 1.10%, 5.87%, 2.86%, and 4.47% of adult activity, respectively. The clinical manifestations related to the bleeding of the cases were drowsiness and convulsion (95%), pallor (85%), and apparent bleeding (10%). The sites of the bleeding were demonstrated in the cranial cavity (95%), gastrointestinal tract and oral cavity (15%), and skin (5%). Nineteen patients with intracranial hemorrhage had bleeding in the subdural space (79%), intracerebral (42%), intraventricular (32%), and subarachnoid space (5.2%). The mortality rate and permanent brain damage occurred in 10% and 45%, respectively. Only 45% of the cases recovered normally. The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), spasticity (22.2%), and hydrocephalus (11.1%). Breast feeding alone up to the day of study (OR = 7.0, p < 0.005) was found to be a significant risk factor for bleeding in these infants.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Risk factors of bleeding diathesis secondary to low prothrombin complex level in infants: a preliminary report. 788 52

We report on a woman with four successive pregnancies affected with X-linked hydrocephalus (XLH). The first child had prenatal craniocentesis and died in utero. The second child had a postnatal shunting operation, but suffers from severe growth and mental retardation at 5 years of age. In the third pregnancy, prenatal ultrasound detected hydrocephalus at the 16th and 20th weeks of gestation and the pregnancy was terminated. In the fourth pregnancy, ultrasound scanning at the 17th and 20th weeks of gestation revealed no remarkable findings, but hydrocephalus was detected at the 24th week. Autopsy confirmed the prenatal diagnosis. DNA polymorphism analysis of the Bc1I site of exons 17-18 of factor VIII gene of the woman and her last two fetuses seemed to be compatible with a linkage between the XLH locus and factor VIII gene. Although XLH has a variable presentation of ventriculomegaly, ultrasound scanning is still a useful tool for prenatal diagnosis at present. Earlier and more accurate prenatal diagnosis will be feasible with molecular analysis of the XLH locus or its flanking regions.
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PMID:Prenatal diagnosis of X-linked hydrocephalus in a Chinese family with four successive affected pregnancies. 791 Mar 98

MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation analysis in eight unrelated patients with MASA syndrome. Three different L1CAM mutations were identified: a deletion removing part of the open reading frame and two point mutations resulting in amino acid substitutions. L1CAM, therefore, harbours mutations leading to either MASA syndrome or HSAS, and might be frequently implicated in X-linked mental retardation with or without hydrocephalus.
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PMID:MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 792 Jun 60


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