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

We report a classical case of Prader-Willi syndrome (PWS) in an adult with typical interstitial deletion of chromosome 15, and emphasize the study of hormonal change. This 21-year-old female had PWS face characteristics, small hands and feet, marked obesity, mental retardation, growth retardation, absence of puberty and amenorrhea. She also had the characteristic history of infantile hypotonia, poor feeding, failure to thrive and then improved appetite, followed by obesity from the age of four years. She had compulsive hyperphagia, to the extent of stealing and lying to take food. Chromosome study with high resolution banding technique revealed a small interstitial deletion at band q12 of chromosome 15, which is characteristically found in a majority of patients with PWS. Hormonal study revealed hypogonadism and growth hormone deficiency of supposed hypothalamic origin. She also had non-insulin-dependent diabetes mellitus with decreased pancreatic insulin reserve.
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PMID:Hormonal change in an adult with Prader-Willi syndrome: report of a case. 791 75

The authors report a 9-year-old girl with mid-facial hypoplasia, maxillary hypoplasia, prognathia, microbrachycephaly, mouth opening and protruding tongue. She also had psychomotor retardation such as mental retardation and speech delay. Frequent laughter fits and seizure disorder was also noted. Although the high resolution chromosome study failed to demonstrate any deletion of chromosome 15q, the clinical picture was compatible with Angelman syndrome. Breast development at the age of six and rapid progression of bone age was noted at follow up. After a series of examinations, the diagnosis of gonadotropin-dependent precocious puberty was made. MRI of brain revealed an intermediate cyst in the pituitary gland and slightly enlarged pineal gland. However, serum alpha-fetoprotein and beta-HCG were undetectable and the size of the pineal gland remained the same at the 1-year follow-up. She was treated with long-acting GnRH analogue and valproic acid. The combination of precocious puberty and Angelman syndrome has not been reported before and such association needs further experience for clarification.
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PMID:Precocious puberty in a case with probable Angelman syndrome. 794 14

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy, mental retardation and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism.
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PMID:Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. 798 82

A 49-year-old female with mental retardation was admitted with suspected renal insufficiency with a raised creatinine (5.1 mg/dl), hyperkalaemia (5.6 mmol/l), and a 12-hour history of diffuse abdominal pain and persistent vomiting. On admission, she had a haematoma around the right shoulder and arm-pit, swelling of the right upper-arm, and severe limitation of movement of the right hand. These injuries were the result of trauma some 5 days previously. She was a long-term inpatient in a psychiatric clinic, with a history of autoaggressive behaviour, which had led to several fractures in the past as a result of falls. The creatinine kinase was elevated to 6680 U/l. The suspected diagnosis of acute oliguric renal failure due to rhabdomyolysis was confirmed by the presence of marked myoglobinuria (409 ng/ml). Because of the delay in diagnosis, acute renal failure developed, and the patient required haemodialysis for 20 days. Because of their many predisposing factors, psychiatric patients represent a special risk group for development of rhabdomyolysis, recognition of which is often delayed.
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PMID:[Acute myoglobinuric kidney failure as a consequence of autoaggressive behavior in mental retardation]. 803 54

Pancreaticoduodenectomy with revascularization of the hepatic artery and portal vein was performed on a 17-year-old girl with giant nonfunctioning islet cell tumor of the pancreas. She had a remote history of neonatal hypoglycemia leading to mental retardation and a right Wilms' tumor resected at 8 months. Serum pancreatic polypeptide levels were elevated. Her postoperative course was complicated by an ischemic perforation of the colon, which did not infect her prosthetic vascular grafts. The relationship between her neonatal hypoglycemia, Wilms' tumor, and subsequent islet cell neoplasm is unclear.
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PMID:Giant nonfunctioning islet cell tumor requiring pancreaticoduodenectomy and complete liver revascularization. 810 91

The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux. Endocrinological investigations revealed a partial deficiency of growth hormone.
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PMID:A Japanese patient with the Costello syndrome. 816 45

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

The aim of the article is to encourage psychiatrists to follow the psychopathological approach to mental retardation. According to the author's opinion it is impossible to explain mental retardation only by using neurological and genetic categories. Mental retardation belongs to the group of psychological disorders like the psychoses and the neuroses. This disorder is characterized by pathological organisation of personality, that inhibits the development of the cognitive functions. The author presents the conditions of life in social care homes (where the basic needs concerning dignity, love and freedom are absent) as an example of the factors pathologizing the personality. She explains the psychological meaning of some abnormal behaviours by persons with mental retardation living in such conditions.
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PMID:[The psychological meaning of abnormal behavior in mental retardation]. 825 44

A case is reported of hydrocephalus due to overproduction of cerebrospinal fluid (CSF) caused by villous hypertrophy of the choroid plexus in the lateral ventricles. A 7-year-old girl with mental retardation developed gait disturbance; hydrocephalus and a Dandy-Walker cyst were detected on computerized tomography. She was initially treated with a ventriculoperitoneal shunt; however, shunting failed to control the hydrocephalus. The excessive outflow of CSF suggested choroid plexus abnormality, and magnetic resonance (MR) imaging revealed enlargement of the choroid plexus in both lateral ventricles. The patient was therefore diagnosed as having hydrocephalus induced by overproduction of CSF, which was controlled by resection of the choroid plexus. Histological examination showed the structure typical of normal choroid plexus. This is a rare case of villous hypertrophy of the choroid plexus in which MR imaging assisted in the diagnosis.
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PMID:Hydrocephalus due to villous hypertrophy of the choroid plexus in the lateral ventricles. Case report. 828 72

The split-hand/split-foot anomaly is a component of several disorders which may occur sporadically or be transmitted as autosomal dominant or autosomal recessive traits. We describe a severely mentally handicapped patient with ectrodactyly of both feet in association with extreme microphthalmia, central cleft-lip and palate and mental retardation. She has an apparent de novo 46,XX,t(6;13) (q21;q12) unbalanced translocation. Either of these breakpoints may be the locus for the ectrodactyly-ectodermal dysplasia-facial cleft (EEC) syndrome.
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PMID:Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. 828 91


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