Expanding the DARS phenotype: Late-adult onset myelopathy and leukoencephalopathy [2023] - 707KB
by Ai Huey Tan, Adeline Su Lyn Ng, Norlisah Mohd Ramli, Weng Khong Lim, Peng Loon Cheah, Jing Xian Teo, Jyn Ling Kuan, Yi Jayne Tan, Jia Lun Lim, Elaine Guo Yan Chew, Jia Nee Foo, Khean Jin Goh, Eng-King Tan, Shen-Yang Lim
A significant proportion of adult-onset neurological disorders remain diagnostic odysseys despite extensive evaluation. Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (H...

Evaluating cognitive function in patients with differentiated thyroid cancer who experienced short- term hypothyroidism by levothyroxine withdrawal using Montreal Cognitive Assessment-Philippines (MoCA-P) tool [2023] - 572KB
by Sylvernon C Israel, Elaine C Cunanan, Jose Lorenzo A Galan, Encarnita R Ampil
Background & Objective: Although there are numerous data studying cognitive dysfunction on hypothyroidism in general, there are limited researches that venture on short-term hypothyroidism. This study...

Posterior reversible encephalopathy syndrome: Co-relation between MR perfusion and the clinico-pathological spectrum [2023] - 2,627KB
by Syed Humairah Mushtaq, Feroze A Shaheen, Ravouf Parvez Asimi, Mudasir Hamid Bhat, Pirzada Faisal Masood, Adnan Firdous Raina, Tariq Gojwari
Objectives: The study was aimed to assess the epidemiological profile and patient characteristics, various morphological patterns of posterior reversible encephalopathy syndrome (PRES) on MRI and vari...

The MAPT p.P301L mutation presents as a rare early-onset corticobasal syndrome: A case report [2023] - 1,497KB
by Cheng-Hsuan Li, Ni-Chung Lee, Kun-Ju Lin, Ing-Tsung Hsiao, Yi-Hsin Weng, Chin-Hsien Lin
Corticobasal syndrome (CBS) is an uncommon movement disorder with a heterogeneous clinical presentation. CBS is generally recognized as a sporadic disorder, although rare familial and isolated genetic...

Can isotretinoin be used in treating multiple neurofibromas thanks to its apoptotic effect? [2023] - 1,120KB
by Mine Müjde KUŞ, Perihan ÖZTÜRK
The most common benign tumor of the peripheral nerve sheath is neurofibromas. The only known curative treatment is total surgical excision. In neurofibromatosis patients with multiple cutaneous neurof...

A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance [2023] - 698KB
by Ayca Kocaaga, Sevgi Yimenicioglu
Coffin-Lowry syndrome (CLS), usually a result of loss-of-function mutations in the RPS6KA3 gene located at Xp22.2, is a very rare genetic condition. It is associated with different phenotypes, includi...

A rare spinal reflex in brain death: Bilateral plantar flexion in nuchal rigidity examination [2023] - 309KB
by Mustafa Deniz, Ahmet Yabalak, Kahraman Dinler
A 74-year-old female patient, who developed a hypoxic brain injury after cardiopulmonary arrest, was diagnosed with brain death on the 4th day of the clinical onset depending on the absence of brainst...

Cerebral Nocardiosis: a diagnostic challenge [2023] - 250KB
by Stella Pak, Adelina Martin, Rudoff Estess, Tamer Abdelhak
uncertain if this represented post-surgical change, residual neoplasm, radiation reaction, or infection. One-year after the brain mass resection, the patient presented to the hospital with new-onset e...

Pyriformis syndrome: Myth or reality? [2023] - 220KB
by Min Cheol Chang, Mathieu Boudier-Revéret, Ming-Yen Hsiao
Pyriformis syndrome is theoretically caused by compression of the sciatic nerve by the pyriformis muscle. Patients with pyriformis syndrome often report shooting, burning, and numbness in the buttock ...