Neurology International

335 KiB

Open AccessCase Report

A Novel Homozygous Variation in the PANK2 Gene in Two Persian Siblings with Atypical Pantothenate Kinase Associated Neurodegeneration

by Amir Hasan Habibi, Saeed Razmeh, Omid Aryani, Mohammad Rohani, Laleh Taghavian, Elham Alizadeh, Karim Moradian Kokhedan and Maryam Zaribafian

Neurol. Int. 2019, 11(1), 7959; https://doi.org/10.4081/ni.2019.7959 - 11 Mar 2019

Cited by 4 | Viewed by 530

Abstract

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is eye of the tiger sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the PANK2 gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment. Full article

466 KiB

Open AccessCase Report

Neuromyelitis Optic with Positive Anti-AQP4 and Anti-SSA/Ro Antibody

by Riwanti Estiasari, Salsabila Firdausia, Dewi Wulandari, Kartika Maharani, Freddy Sitorus, David Pangeran and Darma Imran

Neurol. Int. 2019, 11(1), 7958; https://doi.org/10.4081/ni.2019.7958 - 11 Mar 2019

Viewed by 571

Abstract

Neuromyelitis Optic (NMO) is an inflammatory disorder involving central nervous system which often co-exists with other autoimmune diseases such as Sjögren’s syndrome (SS). NMO manifestation could precede or follow SS, but the role of anti-SSA in the pathogenesis of NMO remains unclear. We present a case of NMO with anti-AQP4 anti-SSA antibody positive. A-44-year-old female presented with right side weakness. The symptoms began with numbness that improved spontaneously. She also complained pain and dry sensations on her eyes. Schirmer test on her left eye, antinuclear antibody (ANA) and anti- SSA antibody were positive. Cervical MRI revealed intramedullary lesion on T2- weighted-image at C2-C5 level. She was diagnosed as NMO with positive anti- AQP4 and probable SS. She received 1g methylprednisolone for 5 days proceeded with mycophenolic acid. One-year observation showed clinical improvement. Systemic autoantibodies must substantially be evaluated in NMO. Comprehensive diagnosis and providing appropriate immunosuppressant might prevent further disability and relapse. Full article

291 KiB

Open AccessCase Report

Large Left Posterior Fossa Meningioma Presenting with Quadriplegia in a Woman with History of Carbidopa-Levodopa Resistant Parkinsonism

by Antonio Jose Reyes, Kanterpersad Ramcharan, Maria Alvarez, Wesley Greaves and Fidel Rampersad

Neurol. Int. 2019, 11(1), 7815; https://doi.org/10.4081/ni.2019.7815 - 11 Mar 2019

Cited by 1 | Viewed by 482

Abstract

A 56–year-old Afro-Trinidadian woman with a history of a carbidopa-levodopa resistance Parkinsonian-like syndrome for 2 years, presented with acute onset spastic quadriplegia and decreased responsiveness. Diagnosis involved clinical and MR-imaging correlation consistent with a large left posterior fossa meningioma. Surgical removal of the tumor led to complete reversibility of the neurological manifestations associated with cerebellar tonsillar herniation beyond the foramen magnum and mass effect on the brainstem, cerebellum and midbrain regions. Pathological findings were typical of a meningioma. This case demonstrates the association of a large left posterior fossa meningioma and carbidopalevodopa resistant parkinsonism in an Afro-Trinidadian woman who presented with acute onset acute quadriplegia and decreased responsiveness. This case reminds clinicians that patients with dopa unresponsiveness and/or acute neurological deficit or deterioration should be worked up for other possible causes and adds to the literature on the association of parkinsonism and intracranial space occupying lesions. Full article

Journal Menu

Journal Browser

Neurol. Int., Volume 11, Issue 1 (March 2019) – 3 articles

Further Information

Guidelines

MDPI Initiatives

Follow MDPI