A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschütter- Tönz syndrome

@#Kohlschütter-Tönz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, and dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of the ROGDI and SLC13A5 genes in KTZS. In this report, we documented the clinical, radiological, electroencephalographic, and genetic results of a 3.5-year-old Turkish girl, born to nonconsanguineous parents, who was the first patient diagnosed with KTZS in Turkey. The patient presented with Rett syndrome-like phenotype, neurodevelopmental delay, refractory seizures, and amelogenesis imperfecta. After obtaining informed consent, chromosomal DNAwas extracted from the peripheral blood of our patient and her parents. To investigate the moleculardiagnosis of the patient, the clinical exome sequencing was performed. The Sanger sequencing analysiswas performed for all of the family members for the validation and segregation of this mutation. PubMed/Medline, Web of Science, and Google Scholar were also searched to find all of the publisheddata on KTZS. The literature comprises 18 published studies about KTZS. The genetic analysis of ourpatient revealed a novel homozygous c.201-1G>T mutation in the ROGDI gene. The same mutationwas also found to be heterozygous in her mother and father. The mutation caused alternative splicingof the ROGDI translation and resulted in a disruption of the ROGDI protein.

‘Ponytail’ artefact on Waters radiography

@#Various factors may lead to artefacts in many radiological examinations that are commonly used in daily clinical practice.1,2 There are some simple but important rules to obtain high quality X-ray images and proper diagnosis with the imaging guidance. Artefacts may result in difficulty in interpretation of images, unnecessary workup and even improper diagnosis.3 Hair artefact that were seen in young girls and female patients, has been rarely reported to be a problem.4 It has been reported on conventional radiographs of the skull, neck and even chest radiographs. Hair artefacts may be caused by structural features or style of hair bounding. In most cases these radiopacities were caused by braids, curls and, obviously synthetic hair braid extensions. Ponytail style hair artefact on radiography has been reported very rarely. We report here ponytail hair style artefact seen on paranasal sinus X-ray images of a young girl. The parents has consented to this report