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 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 Methomyl poisoning presenting with decorticate posture and cortical blindness

2014 ◽  
Vol 6 (1) ◽  
Author(s):  
Chih-Ming Lin
Keyword(s):  
Brain Mri ◽  
Vital Signs ◽  
Altered Mental Status ◽  
Cortical Blindness ◽  
High Signal ◽  
Blurred Vision ◽  
Cerebral Disease ◽  
Cerebral Magnetic Resonance Imaging ◽  
Neurological Effects ◽  
Magnetic Resonance Imaging Mri

Methomyl is a potent pesticide that is widely used in the field of agriculture. The systemic toxic effects of methomyl have been well described. However, the neurological effects of methomyl intoxication are not well understood. In this study, we report a 61-year-old Taiwanese man sent to our emergency department because of altered mental status. His family stated that he had consumed liquid methomyl in a suicide attempt. He was provided cardiopulmonary resuscitation because of unstable vital signs. He was then sent to an intensive care unit for close observation. On the second day of admission, he regained consciousness but exhibited irregular limb and torso posture. On the sixth day, he started to complain of blurred vision. An ophthalmologist was consulted but no obvious abnormalities could be identified. On suspicion of cerebral disease, a neurologist was consulted. Further examination revealed cortical blindness and decorticate posture. Cerebral magnetic resonance imaging (MRI) was arranged, which identified bilateral occipital regions lesions. The patient was administered normal saline and treated with aspirin and piracetam for 3 weeks in hospital. During the treatment period, his symptom of cortical blindness resolved, whereas his decorticate posture was refractory. Follow-up brain MRI results supported our clinical observations by indicating the disappearance of the bilateral occipital lesions and symmetrical putaminal high signal abnormalities. In this article, we briefly discuss the possible mechanisms underlying the cerebral effects of methomyl poisoning. Our study can provide clinicians with information on the manifestations of methomyl intoxication and an appropriate treatment direction.

scholarly journals Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Danilo Giorgi Abranches de Andrade ◽  
Roberta Martins Basso ◽  
Angelo José Magro ◽  
Renée Laufer-Amorim ◽  
Alexandre Secorun Borges ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Amino Acid ◽  
Amino Acid Substitution ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Dwarf Phenotype ◽  
Horse Genome ◽  
Complex Interactions ◽  
New Variant ◽  
Exon 11

Abstract Chondrodysplastic dwarfism in Miniature horses is an autosomal recessive disorder previously associated with four mutations (D1, D2, D3*, and D4) in the aggrecan (ACAN) gene. The aim of this study was to identify additional variants in the candidate ACAN gene associated with chondrodysplastic dwarfism in Miniature horses. Fifteen dwarf Miniature horses were found to possess only one of the dwarfism-causing variants, and two possessed none of the variants. The ACAN exons (EquCab3.0) of seven dwarf Miniature horses were sequenced. A missense SNP in coding exon 11 (g.95271115A > T, c.6465A > T—RefSeq XM_005602799.2), which resulted in the amino acid substitution p.Leu2155Phe (RefSeq XP_005602856.2), was initially associated with the dwarf phenotype. The variant was tested and found present in 14 dwarf foals as well as one parent of each, and both parents of a dwarf possessing two copies. Genetic testing of 347 phenotypically normal Miniature horses demonstrated that none had more than one of the dwarf alleles or c.6465A > T. However, a study of large breeds revealed the presence of c.6465A > T, which was present in homozygosis in two Mangalarga Marchador horses. We suggest that c.6465A > T as a marker of disequilibrium or complex interactions in the Miniature horse genome could contribute to the associated dwarfism.

scholarly journals Hereditary spastic paraplegia:Pathogenesis and pathophysiology

2018 ◽  
pp. 1-13
Author(s):  
Akgun Olmez ◽  
Haluk Topaloglu
Keyword(s):  
Genetic Testing ◽  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Hereditary Spastic Paraplegias ◽  
Recessive Type ◽  
Mitochondrial Functions

Hereditary spastic paraplegias constitute a larger group of disorders than expected. Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 Genetic testing is suggested mainly for these genes. The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients. How different genes with many different biological functions, including axonal transport, mitochondrial functions, fatty acid and cholesterol pathways and DNA repair defects, cause hereditary spastic paraplegia is still unknown.

123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

2020 ◽  
Vol 13 ◽  
Author(s):  
Viviana Frantellizzi ◽  
Mariano Pontico ◽  
Arianna Pani ◽  
Maria Silvia De Feo ◽  
Giuseppe De Vincentis
Keyword(s):  
Autosomal Recessive ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Brain Spect ◽  
Lower Limbs ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency ◽  
Rule Out

Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. Neuroimaging findings are commonly considered rather non-specific. To date, no neuroreceptorial brain imaging with 123I-FP-CIT(DaTScan) is known in subjects with SSADH deficiency. Methods: A 30-year-old man was referred to our attention to rule out any potential nigrostriatal dopaminergic presynaptic pathway alterations in a clinical context of a γ-hydroxybutyric aciduria. He showed impossibility to the autonomous gait, head and trunk retropulsion, lower limbs strength deficit, verbal and upper limbs motor stereotypies and irregular eye tracking. Results: Brain MRI depicted basal ganglia signal abnormalities. Brain SPECT with DaTSCan images showed a global significant reduction of radiotracer uptake. Conclusions: The findings obtained by means of the 123I-DaTScan brain SPECT may give rise to new concerns on pathophysiological aspects of the SSADH deficiency disorder that has never been investigated before, such as the nigrostriatal dopaminergic system functionality, encouraging further investigation.

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 Two Novel Heterozygote Mutations of ATM in a Chinese Family with Dystonia-Dominant Ataxia Telangiectasia and Literatures Review

2021 ◽  
Author(s):  
Zhijun Liu ◽  
Ming-Feng You ◽  
Ya-Ling Wang ◽  
Yan Xu
Keyword(s):  
Genetic Testing ◽  
Ataxia Telangiectasia ◽  
Clinical Characteristics ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Initial Symptom ◽  
Clinical Heterogeneity ◽  
The Family ◽  
Dominant Ataxia

Abstract Ataxia-telangiectasia (A-T) is an autosomal recessive disorder with high clinical heterogeneity. A-T may present in complicated variable forms, mainly including classic A-T and milder forms. Contrary to the classic A-T, the milder form does not present the cardinal features of A-T, including ataxia and telangiectasia. A few ATM mutations have been reported in variant A-T cases manifested as isolated dystonia without any signs of classical A-T. To date, more than 400 disease-related ATM mutations have been identified in patients with A-T. In this study, target exome-sequencing was performed in an AT pedigree with predominant dystonia. Two novel ATM mutations, p.I2683T and p.S2860P, were identified in the family. We then reviewed previously published literatures of genetically confirmed A-T cases with predominant dystonia and summarized the clinical characteristics of dystonia-dominant A-T. To our knowledge, this is the first report of A-T patient with predominant dystonia in China. Dystonia may appear as one of the predominant manifestations or initial symptom of A-T. ATM genetic testing should be early considered for those patients with predominant dystonia, despite without accompanying ataxia or telangiectasia.

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.

Diagnostic and management considerations in pseudohypoaldosteronism type 1b

2022 ◽  
Vol 15 (1) ◽  
pp. e246538
Author(s):  
Jelte Kelchtermans ◽  
Sara E Pinney ◽  
Jacqueline M M Leonard ◽  
Sharon Mcgrath-Morrow
Keyword(s):  
Cardiac Arrest ◽  
Genetic Testing ◽  
Cardiogenic Shock ◽  
Sodium Channels ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Epithelial Sodium Channels ◽  
Rare Autosomal Recessive Disorder ◽  
Pseudohypoaldosteronism Type

Pseudohypoaldosteronism type 1B is a rare autosomal recessive disorder caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaCs). We present the case of a neonate with cardiogenic shock after cardiac arrest due to profound hyperkalaemia. Genetic testing revealed a novel homozygous variant in SCNNIA. We review diagnostic considerations including the molecular mechanisms of disease, discuss treatment approaches and highlight the possible significance of the diversity of pulmonary ENaCs.

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