scholarly journals Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

2018 ◽  
Author(s):  
Baotian Wang ◽  
De Wu ◽  
Jiulai Tang
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Chinese Patient ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy

scholarly journals Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Liena E. O. Elsayed ◽  
Inaam N. Mohammed ◽  
Ahlam A. A. Hamed ◽  
Maha A. Elseed ◽  
Mustafa A. M. Salih ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Neuroaxonal Dystrophy ◽  
Site Mutation ◽  
Infantile Neuroaxonal Dystrophy

Siblings with Infantile Neuroaxonal Dystrophy

2020 ◽  
Author(s):  
Pulkit Agarwal ◽  
Jyotindra Narayan Goswami
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Febrile Illness ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Motor Delay ◽  
Developmental Regression ◽  
Female Sibling ◽  
History Of

AbstractA 2 years 3 months male toddler with motor delay and his female sibling with history of marked global developmental regression following an intercurrent febrile illness were both noted to have phospholipase A2G6 (PLA2G6) mutation, confirming the diagnosis of infantile neuroaxonal dystrophy (INAD). This case report attempts to familiarize readers with the pleomorphic presentation of INAD and the role of early clinical identification, examination, and prompt genetic testing in establishing a diagnosis.

scholarly journals 'Hallervorden-Spatz syndrome - infantile neuroaxonal dystrophy' complex: case report

1988 ◽  
Vol 46 (1) ◽  
pp. 69-72 ◽  
Author(s):  
A. U. Bresolin ◽  
L. Pascuzzi ◽  
R. Melaragno Filho ◽  
Maria H. Fontana ◽  
R. Pécora ◽  
...  
Keyword(s):  
Case Report ◽  
Cerebral Atrophy ◽  
Neuroaxonal Dystrophy ◽  
Complex Case ◽  
Pathological Examination ◽  
Infantile Neuroaxonal Dystrophy ◽  
Axonal Spheroids ◽  
Mental Deterioration ◽  
One Year ◽  
Red Coloration

Case report of a 7 1/2-years old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamina, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamina and axonal «spheroids» at electron microscopy.

scholarly journals Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

2016 ◽  
Vol 12 (5) ◽  
pp. 3387-3389 ◽  
Author(s):  
Haifeng Li ◽  
Yan Zou ◽  
Xinhua Bao ◽  
Hui Wang ◽  
Jiangping Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Monozygotic Twins ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy

Atypical Infantile neuroaxonal dystrophy: a case report

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
J Pietz ◽  
E Schuler ◽  
KS Kang ◽  
B Assmann
Keyword(s):  
Case Report ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report

2015 ◽  
Vol 37 (2) ◽  
pp. 270-272 ◽  
Author(s):  
Daniele Frattini ◽  
Nardo Nardocci ◽  
Rosario Pascarella ◽  
Celeste Panteghini ◽  
Barbara Garavaglia ◽  
...  
Keyword(s):  
Case Report ◽  
Neuroaxonal Dystrophy ◽  
Downbeat Nystagmus ◽  
Infantile Neuroaxonal Dystrophy

Case Report: A New Spectroscopy Finding in Infantile Neuroaxonal Dystrophy

2018 ◽  
Vol 17 (05) ◽  
pp. 180-183
Author(s):  
Andrew Martin ◽  
Saharwash Jamali ◽  
Natasha Redhead ◽  
Paul Armitage ◽  
Archana Desurkar ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Basal Ganglia ◽  
Female Patient ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cerebellar Vermis ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Motor Delay

AbstractInfantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive disorder that is associated with developmental delay and regression. A female patient of consanguineous parents presented with gross motor delay at 15 months. She was known to have two paternal uncles who had died with a diagnosis of INAD. Over the next 15 months, she exhibited regression in several domains and following genetic testing was diagnosed with a PLA2G6 mutation in keeping with INAD. The cerebellar vermis demonstrated a significant reduction in the N-acetylaspartate/creatinine (NAA/Cr) ratio of 0.69. This case highlights what we believe to be a new imaging feature of a low NAA/Cr ratio in the cerebellar vermis with normal ratios in the cerebellar hemispheres and basal ganglia in a patient with genetically confirmed diagnosis of INAD.

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation

2015 ◽  
Vol 32 (6) ◽  
pp. e277-e282 ◽  
Author(s):  
Xiang-bin Mi ◽  
Miao-xuan Luo ◽  
Lin-lang Guo ◽  
Tang-de Zhang ◽  
Xian-wen Qiu
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Protein Gene ◽  
Chinese Patient ◽  
Child Syndrome ◽  
Steroid Dehydrogenase
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