1.A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschütter- Tönz syndrome
Ç ; iğdem GENÇ ; SEL ; Ahmet Cevdet CEYLAN ; Ö ; zlem YAYICI KÖ ; KEN ; Deniz YÜ ; KSEL ; Kader Karlı OĞUZ
Neurology Asia 2020;25(3):401-413
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.
2.Airplane headache: An atypical case with autonomic symptoms and long duration
Ceyla Ataç ; ; Ayşın Kısabay Ak ; Gü ; ldeniz Ç ; etin ; Melike Batum ; Figen Gö ; kç ; ay ; Deniz Selç ; uki
Neurology Asia 2020;25(4):611-613
Airplane Headache (AH) which is classified under headache attributed to disorder of homeostasis
in International Classification of Headache Disorders (ICHD) -3 is a severe, unilateral, orbitofrontal
headache that occurs during and caused by airplane travel. It remits after landing. AH cases with
autonomic symptoms had rarely been reported. We present a 35-year-old male complained of five
attacks of right-sided, unilateral, orbitofrontal headache accompanied with lacrimation, conjunctival
injection and eye redness ipsilaterally, starting 20-30 minutes prior to landing. The headache duration
varied between 30-90 minutes. AH diagnosis was made in the light of anamnesis and neurological
examination. The secondary causes and primary headaches with autonomic symptoms were ruled
out. As far as we know this is the first reported longer duration AH case with autonomic symptoms
in the literature. AH is an underdiagnosed headache. We report this atypical AH case to call attention
to this rare but treatable headache.
3.‘Ponytail’ artefact on Waters radiography
Leman Tekin Orgun ; Betü ; l Emine Derinkuyu ; Emin Ç ; akmakç ; ı ; Ç ; iğdem Genç ; Sel ; Deniz Yü ; ksel
Neurology Asia 2018;23(3):287-288
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

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