Patient with ataxia telangiectasia undergoing elective staging laparoscopy: a case report and literature review

2021 ◽  
Vol 71 (11) ◽  
pp. 2656-2658
Author(s):  
Muhammad Adeel Bashir ◽  
Huma Saleem
Keyword(s):  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Perioperative Management ◽  
Rare Condition ◽  
Staging Laparoscopy ◽  
Recurrent Infections ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene ◽  
Autosomal Recessive Condition ◽  
Insight Into

Ataxia telangiectasia is a rare autosomal recessive condition which develops due to a mutation in the ataxia telangiectasia mutated gene (ATM gene). As a result of this mutation, the ability of the DNA to undergo repair is undermined. The resulting cellular demise is responsible for the diverse presentation of the clinical condition. Neurological symptoms such as cerebellar ataxia, abnormal eye movements and malignancies occur commonly. Immunodeficiency predisposes these patients to recurrent infections. Perioperative management of patients with this rare condition can be associated with increased morbidity. Therefore, it is recommended that patients with ataxia telangiectasia should be managed in a multidisciplinary center, under the supervision of senior clinicians who have the insight into the clinical needs of such patients. We report herein, the perioperative management of a patient with Ataxia telangiectasia undergoing laparoscopic procedure. Continuous....

scholarly journals Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma

2003 ◽  
Vol 2 (1) ◽  
pp. 88-92 ◽  
Author(s):  
Peilin Zhang ◽  
Kunjan S. Bhakta ◽  
Pier Lorenzo Puri ◽  
Robert Newbury ◽  
James Feramisco ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ataxia Telangiectasia ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

2021 ◽  
Vol 14 (10) ◽  
pp. e244641
Author(s):  
Petya Bogdanova-Mihaylova ◽  
Patricia McNamara ◽  
Sarah Burton-Jones ◽  
Sinéad M Murphy
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Rare Condition ◽  
Compound Heterozygous ◽  
Sensorimotor Neuropathy ◽  
Autosomal Recessive Condition ◽  
Solute Carrier ◽  
Compound Heterozygous Mutations ◽  
Clinical Phenotyping

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in SLC12A6 (solute carrier family 12, member 6) encoding the K+–Cl- transporter KCC3 have been identified as the genetic cause of HMSN/ACC. We describe fraternal twins with compound heterozygous mutations in SLC12A6 and much milder phenotype than usually described. Neither of our patients requires assistance to walk. The female twin is still running and has a normal intellect. Charcot-Marie-Tooth Examination Score 2 was 8/28 in the brother and 5/28 in the sister. Neurophysiology demonstrated a length-dependent sensorimotor neuropathy. MRI brain showed normal corpus callosum. Genetic analysis revealed compound heterozygous mutations in SLC12A6, including a whole gene deletion. These cases expand the clinical and genetic phenotype of this rare condition and highlight the importance of careful clinical phenotyping.

scholarly journals Ataxia telangiectasia: what the neurologist needs to know

2020 ◽  
Vol 20 (5) ◽  
pp. 404-414
Author(s):  
May Yung Tiet ◽  
Rita Horvath ◽  
Anke E Hensiek
Keyword(s):  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Case Reports ◽  
Ataxia Telangiectasia Mutated ◽  
Systemic Complications ◽  
Atm Kinase ◽  
Clinical Presentations ◽  
Risk Of Malignancy ◽  
Delays In Diagnosis ◽  
Atypical Phenotype

Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia—with some preserved ataxia telangiectasia-mutated (ATM) kinase activity—have a milder and often atypical phenotype, which can lead to long delays in diagnosis. Clinicians need to be aware of the spectrum of clinical presentations of ataxia telangiectasia, especially given the implications for malignancy surveillance and management. Here, we review the phenotypes of ataxia telangiectasia, illustrated with case reports and videos, and discuss its pathological mechanisms, diagnosis and management.

scholarly journals Senior Loken syndrome with Atypical Retinitis Pigmentosa: a rare manifestation of rare disease

2018 ◽  
Vol 5 (2) ◽  
pp. 651
Author(s):  
Madhura S. ◽  
Sowrabha . ◽  
Manjunath . ◽  
Savitha M. R.
Keyword(s):  
Renal Transplantation ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Rare Condition ◽  
End Stage Kidney Disease ◽  
Rare Manifestation ◽  
Autosomal Recessive Condition ◽  
Urinary Concentrating Ability ◽  
End Stage

Senior Loken syndrome is an autosomal recessive condition characterized by combination of nephronophthisis and retinal degeneration. The earliest presenting features include polyuria and polydipsia secondary to impaired urinary concentrating ability. Nephronophthisis progresses to end stage kidney disease (ESKD) during second decade. The treatment of choice for ESKD due to nephronophthisis is renal transplantation. Retinal lesions are variable ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. There is a spectrum of other features associated with this condition including skeletal, dermatological and cerebellar anomalies. Till date very few cases have been reported due to lack of awareness of this rare condition. Here, we report a case of Senior loken syndrome with atypical retinitis pigmentosa in a 14-year-old boy.

scholarly journals Regulation of ATR activity by the RNA polymerase II phosphatase PNUTS-PP1

2018 ◽  
Author(s):  
Helga B. Landsverk ◽  
Lise E. Sandquist ◽  
Gro Elise Rødland ◽  
Beata Grallert ◽  
Laura Trinkle-Mulcahy ◽  
...  
Keyword(s):  
Rna Polymerase Ii ◽  
Ataxia Telangiectasia ◽  
Replication Stress ◽  
Dependent Manner ◽  
Ataxia Telangiectasia Mutated ◽  
Carboxy Terminal Domain ◽  
Key Factor ◽  
Carboxy Terminal ◽  
Atr Kinase ◽  
Insight Into

AbstractAtaxia telangiectasia mutated and Rad3-related (ATR) kinase is a key factor activated by DNA damage and replication stress. Here, we show that ATR signaling is increased in human cells after depletion of the RNAPII phosphatase PNUTS-PP1, which dephosphorylates RNAPII on Ser 5 of its carboxy-terminal domain (CTD) (pRNAPII S5). Increased ATR signaling was observed in the presence and absence of ionizing radiation or replication stress and even in G1 phase after depletion of PNUTS. Vice versa, ATR signaling was reduced, in a PNUTS dependent manner, after inhibition of the CDK7 kinase mediating pRNAPII S5. Furthermore, CDC73, a well-known RNAPII-CTD binding protein, was required for the high ATR signaling after depletion of PNUTS and co-immunoprecipitated with RNAPII and ATR. These results suggest a novel pathway involving RNAPII, PNUTS-PP1 and CDC73 in ATR signaling and give new insight into the diverse functions of ATR.

scholarly journals Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Nienke J.H. Van Os ◽  
Koen J Van Aerde ◽  
Judith Van Gaalen ◽  
Peter J Merkus ◽  
Laura Silveira-Moriyama ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Resource Limited Settings ◽  
Diagnosis And Management ◽  
Complex Disorder ◽  
Resource Limited ◽  
Serum Alpha Fetoprotein ◽  
Atm Gene

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder linked to mutations in the ATM gene, and is characterized by neurodegeneration with an early onset cerebellar syndrome, hyperkinetic movement disorders, neuropathy, and oculocutaneous telangiectasia. Immunodeficiency, pulmonary disease, growth failure, diabetes mellitus, increased malignancy risk and hypersensitivity to ionizing radiation complicate the clinical picture. Serum alpha-fetoprotein levels are increased in patients with A-T and can therefore serve as a diagnostic marker for the disease. In resource-limited settings, diagnosis and management of patients with a rare and complex disorder such as A-T may be extremely challenging. This expert opinion-based guideline aims to give an overview of diagnosis and management of A-T in resource-limited settings, by prioritizing different options based on medical necessity, availability, and costs.

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