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 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 Diagnosing neurodegeneration with brain iron accumulation before iron starts to accumulate

2019 ◽  
pp. 17
Author(s):  
Ine Hoogwijs
Keyword(s):  
Genetic Testing ◽  
Brain Mri ◽  
Molecular Genetic ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Ataxic Gait ◽  
Myelinated Nerve ◽  
Axonal Spheroids ◽  
Elevated Liver Enzymes ◽  
Epilepsy Gene

Introduction Neurodegeneration with brain iron accumulation (NBIA) consists of a heterogeneous group of disorders with brain iron accumulation as common radiological endpoint. Mutations in multiple genes have been associated with NBIA. We present 2 cases with a different type of NBIA, in whom the diagnosis was confirmed before brain iron accumulation became evident on MRI.  Case description The first patient was referred because of frequent falls at the age of 4 years. She had an ataxic gait and weak Achilles tendon reflexes. Two years later, pyramidal and more prominent cerebellar signs became evident. A skin and muscle biopsy revealed intra-axonal spheroids in the peri-and endomysial myelinated nerve bundles as well as in the motor endplates, which led to the diagnosis of PLA2G6-associated neurodegeneration (PLAN). Brain iron accumulation occurred at follow-up MRI at 9 years of age. The second patient was referred because of developmental stagnation and detection of elevated liver enzymes at 3 months of age. Seizures started at 15 months of age, and were refractory to treatment with multiple anti-epileptic drugs. Molecular genetic testing using an epilepsy gene panel revealed a mutation in the WDR45 gene, a known cause of beta-propeller protein-associated neurodegeneration (BPAN). Brain MRI at 14 months of age showed diffuse hypomyelination in the absence of BIA.  Discussion This report highlights that NBIA can be suspected on a clinical basis and confirmed by genetic testing before iron accumulation becomes present on brain MRI. Early diagnosis will provide a longer timeframe for potential disease modulating treatments in the future.

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.  

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.

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 Neurologic Wilson Disease Presenting with Acute Delirium And Automatic Writing Behaviour: A Case Report

2019 ◽  
pp. 1-4
Author(s):  
Deniz Ertem ◽  
Dilşat Türkdoğan ◽  
Engin Tutar ◽  
Esra Polat ◽  
Gazanfer Ekinci ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Autosomal Recessive Disorder ◽  
Elevated Transaminase ◽  
Wide Range ◽  
Frontal Lobe Dementia ◽  
Automatic Writing ◽  
Writing Activity

Introduction: Wilson’s disease (WD) is a rare autosomal recessive disorder which leads to abnormal copper deposition in multiple tissues. Due to extensive deposition of copper in the liver and brain, WD primarily manifests with a wide range of symptoms as well as psychiatric symptoms. Method: We report a 15-year-old boy presenting with automatic writing behavior and acute neuropsychiatric symptoms; splenomegaly and elevated transaminase levels. Result: A diagnosis of WD was later made, following liver biopsy. Previously, increased writing activity has been reported in cerebrovascular disease, frontal lobe dementia, temporal lobe epilepsy, Parkinson disease and multiple sclerosis but not in WD. Conclusion: This is the first report of increased writing behavior in WD.

scholarly journals Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

2020 ◽  
Vol 11 ◽  
Author(s):  
Jae-Hyeok Lee ◽  
Ji Young Yun ◽  
Allison Gregory ◽  
Penelope Hogarth ◽  
Susan J. Hayflick
Keyword(s):  
Pattern Recognition ◽  
Brain Mri ◽  
Iron Accumulation ◽  
Brain Iron

scholarly journals Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Aisha Khoja ◽  
Mubassar Fida ◽  
Attiya Shaikh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Bone Turnover ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Great Emphasis ◽  
Treatment Goals ◽  
Oral Complications ◽  
Characteristic Features ◽  
Insight Into

Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

Acute hypomania in systemic lupus erythematosus, differential diagnosis. A case report

2016 ◽  
Vol 33 (S1) ◽  
pp. S393-S393 ◽  
Author(s):  
D.K. Ochoa García ◽  
G.M. Chauca Chauca ◽  
L. Carrión Expósito
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Bipolar Disorder ◽  
Differential Diagnosis ◽  
Case Report ◽  
Lupus Erythematosus ◽  
Depressive Episode ◽  
Psychiatric Symptoms ◽  
Brain Mri ◽  
Systemic Lupus ◽  
Neuropsychiatric Sle

IntroductionIt is well known that seizures and psychosis are diagnostic criteria for systemic lupus erythematosus (SLE), however, there could be many other neuropsychiatric symptoms. The American College of Rheumatology Nomenclature provides case definitions for 19 neuropsychiatric syndromes seen in SLE (NPSLE), including cognitive impairment, psychosis, mood and anxiety disorders. Lack of specific manifestations difficult diagnosis and treatment.ObjectivesTo address the diagnostic difficulties that involve the appearance of hypomanic symptoms in the course of SLE treated with high doses of corticoids in a patient with a depressive episode history.MethodDescription of case report and literature revision. We report the case of a 22-year-old woman who presented irritable mood, sexual disinhibition, insomnia and inflated self-esteem. The patient was recently diagnosed with SLE and was on treatment with 50 mg/d prednisone. She had familiar history for bipolar disorder and was taking 20 mg/d paroxetine since the last 6 months after being diagnosed with major depressive episode.ResultsWe proposed differential diagnosis between psychiatric symptoms secondary to central nervous system SLE involvement, a comorbid bipolar disorder or prednisone-induced mood symptoms. Fluctuation of hypomanic symptoms during hospitalization, poor relationship with variation in corticosteroid doses, findings on brain MRI compatible with vasculitis and positive antibodies, oriented this case to a neuropsychiatric manifestation of LES.ConclusionsWe should keep in mind that symptoms of neuropsychiatric SLE may vary from more established manifestations of NPSLE to mild diffuses ones. More studies are needed to expand knowledge in the relationship between mood disorders and neuropsychiatric SLE.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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