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.

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.

Novel Mutation in PLA2G6 Gene in a Patient with Infantile Neuroaxonal Dystrophy

2016 ◽  
Vol 15 (02) ◽  
pp. 073-075 ◽  
Author(s):  
Aravindhan Veerapandiyan ◽  
Amit Chaudhari ◽  
Akilandeswari Aravindhan ◽  
Caroline Hayes-Rosen
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Cerebellar Atrophy ◽  
Autosomal Recessive Disorder ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Group Vi ◽  
Calcium Independent Phospholipase A2 ◽  
Bulbar Dysfunction ◽  
Spastic Quadriparesis

AbstractInfantile neuroaxonal dystrophy (INAD) is an autosomal recessive disorder that causes psychomotor regression. Clinicopathological features include truncal hypotonia followed by spastic quadriparesis, strabismus, nystagmus, cerebellar ataxia, bulbar dysfunction, and cerebellar atrophy. INAD is associated with a variety of mutations in the PLA2G6 gene that encodes the group VI calcium-independent phospholipase A2 protein which is important in cell membrane homeostasis. Defects in this protein cause axonal dystrophy. We report a 2-year-old boy with INAD who was found to have a novel deletion c.1019_1025del7 leading to a frame shift in the PLA2G6 gene. We suggest that this change may be an addition to the array of mutations causing INAD.

scholarly journals Gitelman's Syndrome Presented with Tetany: A Case Report

2013 ◽  
Vol 6 (1) ◽  
pp. 34-36
Author(s):  
Md Zahid Alam ◽  
AMB Safdar ◽  
Shabnam Jahan Hoque ◽  
Rownak Jahan Tamanna ◽  
Rowsan Ara ◽  
...  
Keyword(s):  
Case Report ◽  
Sodium Chloride ◽  
Female Patient ◽  
Muscle Weakness ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Distal Tubule ◽  
Gitelman's Syndrome ◽  
Hypokalemic Alkalosis ◽  
Electrolyte Abnormalities

Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’s syndrome in a 44 years old female patient who presented with generalized muscle weakness and carpal spasm and characteristic electrolyte abnormalities. This condition is sometimes confused with Bartter’s syndrome. DOI: http://dx.doi.org/10.3329/imcj.v6i1.14724 Ibrahim Med. Coll. J. 2012; 6(1): 34-36

scholarly journals Neurodegeneration with brain iron accumulation: A case report

2016 ◽  
Vol 10 (2) ◽  
pp. 160-164 ◽  
Author(s):  
Daniel Nassif ◽  
João Santos Pereira ◽  
Mariana Spitz ◽  
Cláudia Capitão ◽  
Alessandra Faria
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Autosomal Recessive ◽  
Psychiatric Symptoms ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Diagnostic Importance ◽  
Abnormal Brain

ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

scholarly journals Genetically proven fanconi anemia: a case report

2016 ◽  
Vol 4 (1) ◽  
pp. 290
Author(s):  
Rugmini Kamalammal ◽  
Divya Narayanan Kutty
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Fanconi Anemia ◽  
Congenital Malformations ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Female Child ◽  
Clinical Findings ◽  
Genetic Studies

Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by congenital malformations, haematological problems and predisposition to malignancies. It was first described by Guido Fanconi, a Swiss Paediatrician in 1927. The prevalence of FA is 1 to 5 cases per million.The genes that have been found to be mutated in FA patients are called FANC. 16 different FANC genes have been reported, among which 60-65% account for the mutations seen in FANCA genes which is the most frequently seen in FA patients. The disease is most commonly seen in children between 5-15 years. Diagnosis is based on the congenital physical abnormalities and confirmed by genetic testing. Here we report a rare case of Fanconi Anemia in a 4 year old female child with the characteristic clinical findings and the diagnosis was confirmed by genetic studies.  

scholarly journals Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report

2020 ◽  
pp. 1-5
Author(s):  
Azhar Ahmed ◽  
Azhar Alali ◽  
Osama Alsharif ◽  
Adnan Kaki
Keyword(s):  
Saudi Arabia ◽  
Genetic Counseling ◽  
Case Report ◽  
Genetic Testing ◽  
Visual Impairment ◽  
Family Member ◽  
Early Life ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Macular Dystrophy

Hypotrichosis with juvenile macular dystrophy is an autosomal recessive disorder due to a mutation in the CDH3 gene. As its name indicates, the disease classically presented with hypotrichosis and early visual impairment. We describe herein a family member with alopecia since birth associated with severe visual impairment in their early life. We suspect the diagnosis of hypotrichosis with juvenile macular dystrophy. Genetic testing confirms the clinical suspension. We emphasize the importance of genetic testing for proper genetic counseling.

scholarly journals SAT-062 Twins with a Homozygous Variant of ARNT2, This Is a Known Saudi Mutation (KSM) of Webb- Dattani Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Abdullah Abdulruhman Aljasser
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Cortical Blindness ◽  
High Signal ◽  
Thin Corpus Callosum ◽  
Homozygous Variant ◽  
Saudi Family ◽  
Delayed Myelination

Abstract Webb-Dattani syndrome (WEDAS) is an autosomal recessive disorder caused by mutation in the ARNT2 gene characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency. The condition is reported to be associated with consanguinity and with Saudi Arabian ancestry. We presented twin baby girls with developmental delayment seizures, and microcephaly. They have also hypopituitarism in the form of diabetes insipidus and hypocortlisim. also they have cortical blindness. Their brain MRI shows brain atrophic changes and delayed myelination thin corpus callosum,and small pituitary gland ad absence posterior high signal spot and pituitary stalk. Genetic testing by Exome sequencing was done and it shows A homozygous variant of ARNT2 (ARNT2:NM_014862:exon3:c.147-1G>A). One of this twin her condition deteriorated with uncontrolled seizures and spasticity and died at age 22 months. Conclusion: we report another cases of the ARNT2 mutation in a Saudi family illustrating the disease of webb-dattani Syndrome with seizures and hypopituitarism and severe visual impairment and global developmental delayment.

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

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.

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