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Kohlschütter-Tönz Syndrome

Kohlschutter Tonz Syndrome


Presentation

  • Taken together, the clinical presentation and loss-of-function mutation in the ROGDI gene confirms the clinical diagnosis of KTS.[ncbi.nlm.nih.gov]
  • We present a family in which 2 affected children (a boy and a girl) were born to consanguineous parents. This report confirms the autosomal recessive inheritance of the disorder.[ncbi.nlm.nih.gov]
  • The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease.[ncbi.nlm.nih.gov]
  • Epileptic encephalopathy usually presents in the neonatal and (less frequently) early infantile period.[ncbi.nlm.nih.gov]
  • Also, spasticity and loss of mental capacity should not be considered obligatory manifestations of the syndrome because they are not present in half of reported patients, as well as in our family.[ncbi.nlm.nih.gov]
Progressive Dementia
  • Showing of 22 80%-99% of people have these symptoms Amelogenesis imperfecta 0000705 Dementia Dementia, progressive Progressive dementia [ more ] 0000726 Developmental regression Loss of developmental milestones Mental deterioration in childhood [ more[rarediseases.info.nih.gov]
Tooth Discoloration
  • Because the tooth discoloration caused by amelogensis imperfecta is often attributed to environmental factors, diagnosis of this syndrome is sometimes delayed or overlooked.[xpertdox.com]
  • Because the tooth discoloration caused by amelogensis imperfecta is often thought to be caused by environmental factors or other diseases, diagnosis of this syndrome is sometimes overlooked.[en.wikipedia.org]
Tooth Discoloration
  • Because the tooth discoloration caused by amelogensis imperfecta is often attributed to environmental factors, diagnosis of this syndrome is sometimes delayed or overlooked.[xpertdox.com]
  • Because the tooth discoloration caused by amelogensis imperfecta is often thought to be caused by environmental factors or other diseases, diagnosis of this syndrome is sometimes overlooked.[en.wikipedia.org]
Meningism
  • However, some possible causes of epilepsy include: birth trauma (inadequate oxygen supply to the brain, blood incompatibility, or hemorrhage) perinatal infection anoxia (after respiratory or cardiac arrest) infectious diseases (meningitis, encephalitis[checkorphan.org]

Workup

Epileptiform Activity
  • Electroencephalography (EEG) typically shows epileptiformic activities and a loss of normal background activities. Genetic analysis helps confirming the mutation responsible for causing the syndrome, thus formulating the definitive diagnosis.[xpertdox.com]
  • […] and multifocial epileptiform activity. [9] Several patients showed a loss of normal background activity. [2] Treatments [ edit ] Most patients suffering from KTS have epilepsy that is resistant to anti-epileptic agents.[en.wikipedia.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Some patients are benefitted with a partial response to treatment, but very few are totally cured of the epilepsy through treatment. Baclofen can be used for spasticity. There is no definitive treatment of the condition.[xpertdox.com]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • , and in some cases, due to treatment also.[dovemed.com]

Prognosis

  • Prognosis - Kohlschutter Tonz syndrome Not supplied. Treatment - Kohlschutter Tonz syndrome Not supplied. Resources - Kohlschutter Tonz syndrome Not supplied.[checkorphan.org]
  • What is the Prognosis of Amelogenesis Imperfecta? (Outcomes/Resolutions) The prognosis for Amelogenesis Imperfecta is excellent, as there are treatment options available to restore and maintain healthy teeth.[dovemed.com]
  • Prognosis is highly varied. Is there prenatal testing for 18q-Syndrome? 18q-Syndrome only appears in approximately 1 in every 40,000 births.[australasianleukodystrophyfoundation.com]

Etiology

  • The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were independently identified in three unrelated families and in five likely related Druze families.[ncbi.nlm.nih.gov]

Epidemiology

  • Epidemiological studies, however, do indicate that all epileptic encephalopathies together constitute almost 25% of the childhood epilepsies ( Kramer et al. , 1998 ; Panayiotopoulos, 2005 ).[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur. J. Hum. Genet. 16:320–327. 6. Mahmoud, A. A., G. M. Yousef, I. Al-Hifzi, and E. P. Diamandis. 2002.[docksci.com]

Prevention

  • How can Kohlschutter Tonz Syndrome be Prevented? Currently, Kohlschütter-Tönz Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Prevention - Kohlschutter Tonz syndrome Not supplied. Diagnosis - Kohlschutter Tonz syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Kohlschutter-Tonz syndrome.[checkorphan.org]
  • HUS) , Strasbourg , France 4 Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, Université de Strasbourg, IGBMC-CERBM CNRS UMR7104, INSERM U964 , Illkirch , France 5 Department of Preventive[jmg.bmj.com]

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