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155 Possible Causes for Severe Mental Retardation in Some Patients

  • Deletion of the Long Arm of Chromosome 18

    Summary A female infant with mental retardation and multiple somatic anomalies is described. The karyological analysis disclosed the partial deletion of the long arm of chromosome 18 in cells of probands peripheral blood culture. Repeated investigations of probands mothers peripheral blood cultures disclosed the[…][link.springer.com]

  • Renal Pelvic Calculus

    There are several gene and chromosome abnormalities which associated with this disorder: microdeletion at 16p 13.3 region in the CREBBP in some patient, suggesting that deletion[azdoc.site] DISCUSSION RTS is a multiple congenital anomalies-mental retardation syndrome.[azdoc.site]

  • Wolfram Syndrome

    We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities.[ncbi.nlm.nih.gov] MRIs showed widespread atrophie changes throughout the brain, some of which correlated with the major neurologic features of the syndrome. 1992 by AAN Enterprises, Inc.[neurology.org] Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures[ncbi.nlm.nih.gov]

  • Fabry Disease

    patients, mental impairment [ 32 ].[ncbi.nlm.nih.gov] The disease is classified as mild or severe according to the absence or presence of mental retardation [ 33, 34 ].[ncbi.nlm.nih.gov] […] hepatosplenomegaly, dysostosis multiplex, joint contractures, obstructive airway disease, deafness, hydrocephaly, recurrent sinopulmonary infections, valve disease and, in some[ncbi.nlm.nih.gov]

  • Bjornstad Syndrome

    Mental retardation or hypogonadism in some patients. No specific anesthetic implications should arise from this disorder.[accessanesthesiology.mhmedical.com] Benzodiazepine premedication may decrease the anxiety of these patients with severe deafness given that communication may be difficult.[accessanesthesiology.mhmedical.com]

  • Dravet Syndrome

    In severe cases, patients may present with profound neurological deficit including hypotonia, seizures and mental retardation.[ncbi.nlm.nih.gov] Mental retardation ranged from moderate to severe, with predominance of language impairment, and some patients had a major personality disorder, labeled autistic or psychotic[onlinelibrary.wiley.com] The clinical phenotypes of this condition are variable; some patients were asymptomatic while some may present with developmental delay or autistic features.[ncbi.nlm.nih.gov]

  • Cryopyrin-Associated Periodic Syndrome

    Improvement of long-term complications have also been reported in some patients with hearing loss, loss of vision, amyloidosis (kidney disease), growth retardation, but not[dermnetnz.org] […] the bone abnormalities or existing mental retardation seen in severe NOMID/CINCA.[dermnetnz.org]

  • Wolcott-Rallison Syndrome

    There was slight to severe mental retardation or developmental delay in the majority of the patients, but some were within the normal range (WRS9-1, 10-1, 11-1, and 12-1).[doi.org] The mental and psychomotor development was assessed based on the sitting/walking age, speech and communication, and school performance.[doi.org]

  • Rasmussen Syndrome

    Untreated, the disorder may lead to severe neurological deficits including mental retardation and paralysis. In some patients the surgery decreases the seizures.[medicinenet.com]

  • Cerebral Palsy

    Many of the infants born with cerebral palsy also experience some degree of mental retardation and/or have seizures.[my.clevelandclinic.org] Children with mild cerebral palsy may only have a minor limp or an uncoordinated walk, while patients with severe cases will require care and supervision throughout their[my.clevelandclinic.org]

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