Kohlschütter syndrome--an example of a rare progressive neuroectodermal disease. Case report and review of the literature

Klinische Pädiatrie
T WygoldG Schuierer

Abstract

Kohlschütter's syndrome is a combination of amelogenesis imperfecta, progressive mental retardation and epileptic seizures. We report on a patient with typical signs of this syndrome. Beneath severe enamal defects of teeth, the patient has been suffering from progressive mental and motoric retardation from the age of six months. Although there is pathologic activity in EEG, seizures have not yet appeared. MRT shows distinct signs of cerebral atrophy. Apart from this patient 15 patients in 4 families have been reported up to now in literature. The article compares diagnostic results in this case with those reported in literature.

Citations

Jan 18, 2006·American Journal of Medical Genetics. Part a·Edda HaberlandtDieter Kotzot
Sep 8, 2016·Journal of Medical Genetics·Anna SchossigInes Kapferer-Seebacher
Apr 20, 2021·Journal of Child Neurology·Özlem Akgün-DoğanKoray Boduroglu
Apr 10, 2012·American Journal of Human Genetics·Adi MoryRuth Gershoni-Baruch
Mar 20, 2012·American Journal of Human Genetics·Anna SchossigJohannes Zschocke
Nov 21, 2017·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Nalini AswathArvind Ramanathan
Dec 24, 2021·American Journal of Medical Genetics. Part a·Lelde LiepinaMarta Celmina

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