Myotonic dystrophy type 1 with anterior temporal white matter changes mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [2020] - 629KB
by Hyun Seung Kim, Young Eun Kim, Jeongjae Lee, Hyeo-il Ma
Myotonic dystrophy type 1 is the most common type of muscular dystrophy in adults characterized by progressive myopathy, myotonia, and occasional systemic involvement. This is a case of myotonic dystr...

Low back pain as a presenting symptom in GNE myopathy [2020] - 733KB
by Sang-Soo Lee
GNE myopathy is a rare autosomal recessive early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscles and commonly spares the quadriceps femoris muscles...

A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschütter- Tönz syndrome [2020] - 622KB
by Çiğdem GENÇ SEL, Ahmet Cevdet CEYLAN, Özlem YAYICI KÖKEN, Deniz YÜKSEL, Kader Karlı OĞUZ
Kohlschütter-Tönz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic f...

A unique leukoencephalopathy accompanied by palmoplantar pustulosis with identical pathological feature of helper T cell accumulation [2020] - 472KB
by Ryo Sasaki, Yoshio Omote, Koh Tadokoro, Namiko Matsumoto, Emi Nomura, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Yasuyuki Ohta, Koji Abe
Palmoplantar pustulosis is a chronic inflammatory skin disease involving the palms and soles where mild accumulation of helper T cells and neutrophils in the dermis histologically are observed. Leukoe...

Exercise-induced acute renal failure with posterior reversible encephalopathy syndrome [2020] - 615KB
by Aysun Toraman, Aysın Kısabay, Berna Gursel Eren, Melike Batum, Seyhun Kursat
Posterior reversible encephalopathy syndrome (PRES) is characterized by headache, mental changes, epileptic seizures, visual disturbances, and transient changes in the posterior circulation system of ...