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Schimke Immunoosseous Dysplasia

Schimke immuno-osseous dysplasia


Presentation

  • Accelerated atherosclerosis has been a proposed cause for the neurologic complications but is not universally present.[n.neurology.org]
  • In the present study we tested the hypothesis that mitochondrial dysfunction may be an underlying pathophysiologic mechanism in this multisystemic disease.[ncbi.nlm.nih.gov]
  • We present a novel mutation (NM_014140.3:c.2070 2insT) that results in defective SMARCAL1 mRNA splicing in a child with SIOD.[ncbi.nlm.nih.gov]
  • We report on a 17-year-old woman who presented with behavior changes, developmental regression, and partial complex seizures in early childhood. Computed tomographic scan of the brain was normal at that time.[ncbi.nlm.nih.gov]
  • Individuals with the mild presentation typically survive into adulthood if renal complications are treated.[sema4.com]
Vomiting
  • We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in addition, vomiting and prolonged diarrhea.[ncbi.nlm.nih.gov]
  • At 8 years of age, she developed symptoms of central nervous system (CNS) vascular impairment including recurrent headaches with nausea, vomiting, blurred vision, hallucinations, and dysosmia.[jmg.bmj.com]
Steatorrhea
  • The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID.[ncbi.nlm.nih.gov]
  • The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID. наверх[gastroportal.ru]
Profound Mental Retardation
  • To our knowledge this is the first reported patient with SID, profound mental retardation, and a seizure disorder.[ncbi.nlm.nih.gov]

Workup

  • However, the molecular genetic workup can be performed in two steps: MLPA, followed by sequencing of the coding regions and splice sites (Grimm et al 2012).[healthdocbox.com]
Albuminuria
  • Massive albuminuria appeared at the same time (2 g/day quantitatively). The girl had neither edema nor hypertension, ascites, or other signs of glomerular dysfunction. The nephrosis was refractory to corticosteroid treatment.[docslide.com.br]
White Matter Lesions
  • MRI studies of the CNS revealed progressive white matter lesions. Morphological changes as well as neurological deficits are compatible with cerebral ischaemia.[springerlink.com]

Treatment

  • Treatment depends on the symptoms and severity in each person.[rarediseases.info.nih.gov]
  • Treatment - Schimke immunoosseous dysplasia These resources address the management of Schimke immuno-osseous dysplasia and may include treatment providers. * Gene Review: Schimke Immunoosseous DysplasiaThis link leads to a site outside Genetics Home Reference[checkorphan.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The patient also suffers from progressive hip dysplasia leading to severe pain that requires continual treatment with buprenorphine.[docksci.com]

Prognosis

  • Prognosis - Schimke immunoosseous dysplasia Not supplied.[checkorphan.org]
  • Asymptomatic, microscopic hematuria is seen in 8-21% of the general population, has a good prognosis, and is generally not an indication for kidney biopsy. But whether it should preclude kidney donation is unclear. Methods.[scinapse.io]
  • […] described in PWS (Blount disease and multiple allergies) RAS-opathies RAS-opathies (Neuro cardio facio skeletal spectrum) represent another challenging field in Clinical Genetics because we deal with a group of similar disorders, but with different prognosis[healthdocbox.com]

Etiology

  • The representation of T-cell subsets in SIOD patients is further characterized by a high proportion of memory (CD45RA CD45RO ) T cells, however, the etiology of T-cell immunodeficiency has not been elucidated.[bloodjournal.org]
  • To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology.[scinapse.io]
  • Cleft palate is also addressed, with details on etiology, phenotypes, treatment timing and approaches, and dental management.[books.google.it]
  • The aim of this study was to evaluate the ability of a combination of MLPA kits to establish the etiologic diagnosis in a group of patients with syndromic ID.[healthdocbox.com]

Epidemiology

  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.es]
  • Relevant External Links for SMARCAL1 Genetic Association Database (GAD) SMARCAL1 Human Genome Epidemiology (HuGE) Navigator SMARCAL1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SMARCAL1 No data available for Genatlas for SMARCAL1 Gene[genecards.org]
  • ., (1966), Epidemiology of autistic conditions in young children: Some characteristics of the parents and children, Social Psychiatry, Kuehn B.M., (2007), CDC: autism spectrum disorders common, Journal of the American Medical Association, 297, CDC, (2012[healthdocbox.com]
Sex distribution
Age distribution

Pathophysiology

  • The underlying pathophysiology of SIOD remains unclear.[ncbi.nlm.nih.gov]
  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]
  • SW/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 SMARCAL 1 is the gene responsible for SIOD but the underlying pathophysiologic mechanism is unclear, therefore, there is limited therapeutic options.[unboundmedicine.com]
  • Although the pathophysiology of SIOD is currently not well understood, the underlying immune dysfunction of these patients may contribute to development of these ocular conditions.[iovs.arvojournals.org]

Prevention

  • Although both were caries- and periodontal disease-free, special attention was focused on prevention, including dietary counselling, plaque control, oral hygiene instructions and the use of fluoridated toothpaste.[hal.inserm.fr]
  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Prevention - Schimke immunoosseous dysplasia Not supplied. Diagnosis - Schimke immunoosseous dysplasia SIOD is diagnosed on the basis of clinical findings. SMARCAL1 is the only gene known to be associated with SIOD.[checkorphan.org]
  • This new insight may provide a basis for novel preventative therapy in this rare disorder. Disclosure: Dr. Haffner has nothing to disclose. Dr. Rollins has nothing to disclose. Dr. Dowling has nothing to disclose. You May Also be Interested in[n.neurology.org]

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