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

We reported a clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia. She was well until 3 days prior to first admission in local hospital. Two days prior to admission, she began to vomit. Twelve hours later, she was noted to be lethargic and developed malaise with frequent vomiting. At physical examination on admission, she had frequent fits and her posture was decerebrate rigidity. Consciousness disturbance continued for two weeks. Thereafter, she became severely handicapped with spastic quadriplegia, mental retardation and intractable epilepsy. She was transferred to our hospital one month later. We cared her totally and carefully with our rehabilitation staff, but during her course several rare happening occurred; she suffered from subdural hemorrhage due to hypocupremia and received an operation for the release of contracture of her hips. She died of acute cardio-respiratory failure at 8 years and 5 months of age. Her autopsy findings were characteristic of the damage to an immature brain during development; cactus formation of cerebellar cortex and periventricular leukomalacia.
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PMID:[A clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia]. 138 94

The sleep apnea syndromes have been recognized clinically in the United States only within the past ten years. The true extent of the problem is not known, but it seems certain that these syndromes are much more common than was generally assumed five years ago. Every clinician should be aware of the signs and symptoms of sleep apnea because of the rapid and prompt response to therapeutic measures. Sleep apnea syndromes, whether obstructive or central, can result in systemic or pulmonary hypertension, arterial blood gas abnormalities, life-threatening cardiac arrhythmias, chronic respiratory failure, sleep disturbances, narcolepsy, excessive daytime somnolence, sexual dysfunction, and the suspicion of mental retardation. The immediate and dramatic improvement produced by tracheostomy in the obstructive type of sleep apnea, or nocturnal ventilatory support in the central type, can not only enhance the quality of life for these patients, but return them to functional and productive lives.
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PMID:Sleep apnea syndromes. 703 20

Cystic disease of the lungs with focal nodular adenomatoid proliferation is among the least common pathologic stigmas of tuberous sclerosis. It tends to develop in adult life, occurs more commonly among female patients who do not have mental retardation and epileptic seizures, and may be rapidly fatal after the onset of respiratory symptoms. Reported here is one such case, that of a 45-year-old woman who had, in addition to the pulmonary involvement, cerebral tubers, retinal phakomas, adenoma sebaceum, subungual fibromas, renal angiomyolipomas, cardiac angiofibroma, hepatic angiomas, and thyroid adenoma. This is also the first patient in whom pulmonary function tests by body plethysmography were performed, which aids our understanding of the pathophysiology of respiratory failure in tuberous sclerosis.
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PMID:Cystic disease of the lungs in tuberous sclerosis: clinicopathologic correlation, including body plethysmographic lung function tests. 741 9

Osteogenesis imperfecta, a rare connective tissue disorder, is known to be associated sometimes with the invagination of the basilar skull. This deformity may disturb respiratory function secondary to brain stem compression and hydrocephalus. In addition, the deformed thoracic cage and fragile ribs make pulmonary care more complicated. A case of 24-year-old man is presented with brain stem compression syndrome secondary to osteogenesis imperfecta congenita with basilar impression. He developed respiratory failure and became tracheostomy positive-pressure ventilator dependent at the age of 21 years. He also suffered multiple skeletal abnormalities and mental retardation, and following the brain stem compression, severe quadriparesis. The patient's condition is stable since he has been using the ventilator and he is currently living in the community.
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PMID:Chronic ventilator use in osteogenesis imperfecta congenita with basilar impression: a case report. 800 73

Down Syndrome (DS) is the most common of the chromosomal disorders and manifests abnormalities in several organ systems. While mental retardation, skull and brain anomalies, and the development of Alzheimer-type neuropathological changes in patients greater than age 40 years are well recognized by neurologists and neuropathologists, less appreciated are the various cervical spine abnormalities that can occur. Widening of the anterior atlanto-odontoid distance (AAOD) and atlantooccipital instability occur in up to 21% and 63% of DS patients, respectively, but neurologic complaints are uncommon and rarely are severe enough to contribute to the patient's demise. We present a case of 49-year-old DS patient whose triplegia, subacute progressive respiratory failure, and death could be attributed to severe degenerative joint disease of the cervical spine with osteophyte formation and severe spinal canal stenosis. We provide the first detailed correlation study between pre-mortem magnetic resonance imaging (MRI) and extensive autoptic dissection in an adult DS patient with cervical spine abnormalities, as well as a review of the literature.
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PMID:Cervical spine abnormalities in Down Syndrome. 1050 34

Chromosome 14 demonstrates imprinting with differing phenotypes for both maternal and paternal uniparental disomy (UPD). Although only 11 cases of paternal uniparental disomy 14 (patUPD14) have been reported, a distinct clinically recognizable syndrome has emerged. The major features are polyhydramnios, small thorax, mildly short limbs, abdominal wall defects, and characteristic face with short palpebral fissures, broad flat nasal bridge, prominent philtrum, and small ears. Radiographically, the chest is bell-shaped and the ribs are distinctive with caudal bowing anteriorly and cranial bowing posteriorly. Several affected infants have died from respiratory failure. The survivors have short stature and mental retardation. The initial cases were all recognized because of translocations involving chromosome 14. Subsequently, several patients with a similar phenotype and normal chromosomes have been reported, including two with mixed iso- and hetero-disomy as well as one with segmental UPD14. Our patient is the first with pure paternal isodisomy 14 in the absence of a translocation. We present additional clinical information, review the literature, and discuss mechanisms that may explain paternal isodisomy 14 in our chromosomally normal patient. Paternal UPD14 with normal karyotype may be more common than previously suspected and may be overlooked unless recognition of the clinical phenotype prompts investigation for UPD.
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PMID:Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype. 1510 5

Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with considerable clinical variability, and is considered to be mainly the result of a hypothalamic defect. PWS is characterized by hyperphagia, obesity, mental retardation and hypogonadism from a young age. Hyperphagia is one of the most serious problems, which is organic in origin, inducing morbid obesity and leading to respiratory failure. Most studies attempting to control obesity in children with PWS by dietary management reported limited success due to difficulty in controlling foraging and food stealing. Here we report 16- and 20-year-old female patients with PWS who showed marked weight loss and improvement of respiratory failure by behavior modification and improvement of the environment.
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PMID:[Marked weight loss in two female patients with prader-willi syndrome by behavioral modification and improvement of the environment]. 1654 41

We report a case of a 16-yr-old male with Danon disease caused by a novel mutation in the LAMP-2 gene. Mutations in the LAMP-2 gene result in the absence of LAMP-2 on immunohistochemical staining of muscle tissue, thus defining Danon disease, a rare X-linked myopathy. It is characterized clinically by HCM or left ventricular hypertrophy, a WPW pattern on ECG, variable degrees of muscular weakness (skeletal myopathy), mental retardation, and retinal changes. The patient presented with severe skeletal muscular weakness and respiratory failure. He also had a history of two OHTs, the first one for severe HCM and the second for allograft rejection. The patient's myopathy was initially presumed to be exclusively related to steroid-induced "critical care myopathy." However, further evaluation with a thigh muscle biopsy revealed autophagic vacuoles with sarcolemnal features suggestive of a lysosomal storage disorder. DNA analysis ultimately identified a previously unreported hemizygous IVS6+3_+6delGAGT splice site deletion mutation in the LAMP-2 gene located within the 5' splice site of intron 6, consistent with Danon disease.
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PMID:Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. 1828 7

Owing to the large size of chromosome 2, partial monosomy of the long arm of this chromosome gives rise to many specific phenotypes. We report on a 2-month-old girl with an interstitial deletion of 2q24.2q24.3, which was confirmed by microarray-based comparative genomic hybridization analysis. The patient showed delayed growth and mental retardation, early myoclonic seizures, and characteristic dysmorphic features including thick arched eyebrows, upslanting palpebral fissures, long eyelashes, depressed nasal bridge, short nose, long philtrum, small mouth, micrognathia, and low set ears. Her early myoclonic seizures were likely due to haploinsufficiency of SCN1A and SCN2A, which are included in the deletion region. When she experienced acute bronchopneumonia, she showed severe pulmonary emphysema. The deletion region of 2q24.2 includes the integrin beta6 gene (ITGB6), which may prevent acute lung injury and pulmonary emphysema. Many previously reported patients with deletions of 2q24.2 showed poor outcomes because of respiratory failure. These observations suggest the possibility of a strong relationship between haploinsufficiency of ITGB6 and pulmonary dysfunction.
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PMID:Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. 2035 20

We report on a patient with mental retardation and chronic hypercapnic respiratory failure who was found to have severe central apnea and periodic breathing while undergoing an evaluation of low oxygen saturation during wakefulness at rest. Magnetic resonance imaging of the brain, which was performed to uncover potential causes for the central sleep apnea, revealed a "molar tooth sign" consistent with the diagnosis of Joubert syndrome. Joubert syndrome-related disorders are autosomal-recessive disorders characterized by diffuse hypotonia, developmental delay, abnormal respiratory patterns, and the pathognomonic neuroradiologic finding of a molar tooth sign. Adaptive servoventilation failed to correct the central apneas or the periodic breathing. Treatment with bilevel positive airway pressure in S/T mode led to resolution of the central events, improvement in sleep quality, and normalization of the oxygen saturation during wakefulness.
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PMID:Joubert syndrome associated with severe central sleep apnea. 2072 89


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