A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy

Abstract Background Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS. Case presentation A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed. Conclusions GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia.

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Spinocerebellar Ataxia type 29 in a family of Māori descent

Cerebellum & Ataxias ◽

10.1186/s40673-019-0108-3 ◽

2019 ◽

Vol 6 (1) ◽

Cited By ~ 1

Author(s):

Kathie J. Ngo ◽

Gemma Poke ◽

Katherine Neas ◽

Brent L. Fogel

Keyword(s):

Spinocerebellar Ataxia ◽

Autosomal Dominant ◽

De Novo ◽

Spinocerebellar Ataxia Type ◽

Case Presentation ◽

Whole Exome ◽

Progressive Cerebellar Ataxia ◽

Genetic Origins ◽

Trisphosphate Receptor

Abstract Background Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 (ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori, indigenous to New Zealand, are an understudied population for genetic ataxias. Case presentation We investigated the genetic origins of spinocerebellar ataxia in a family of Māori descent consisting of two affected sisters and their unaffected parents. Whole exome sequencing identified a pathogenic variant, p.Thr267Met, in ITPR1 in both sisters, establishing their diagnosis as SCA29. Conclusions We report the identification of a family of Māori descent with a mutation causing SCA29, extending the worldwide scope of this disease. Although this mutation has occurred de novo in other populations, suggesting a mutational hotspot, the children in this family inherited it from their unaffected mother who was germline mosaic.

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Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2019-0581 ◽

2020 ◽

Vol 33 (7) ◽

pp. 963-966

Author(s):

Haruka Kawamura ◽

Satoshi Watanabe ◽

Takashi I ◽

Izumi Asahina ◽

Hiroyuki Moriuchi ◽

...

Keyword(s):

Autosomal Dominant ◽

Therapeutic Potential ◽

Giant Cells ◽

Efficacy And Safety ◽

Autosomal Dominant Disorder ◽

Osteolytic Lesions ◽

Case Presentation ◽

Childhood Growth ◽

Receptor Activator ◽

Denosumab Treatment

AbstractBackgroundDenosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone is replaced by a fibrous granuloma containing osteoclast-like giant cells.Case presentationWe report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. The treatment consisting of eight subcutaneous denosumab injections (120 mg/dose) in 6 months not only suppressed the expansion of the osteolytic lesions but also dramatically ossified them. However, a transiently decreased growth rate and rebounded asymptomatic hypercalcemia were associated with the treatment.ConclusionsThe present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. Further studies are needed to establish a safe and effective protocol for denosumab treatment of children.

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Autosomal Dominant Frontotemporal Lobar Degeneration in a Filipino Family with Progranulin Mutation

Dementia and Geriatric Cognitive Disorders ◽

10.1159/000510106 ◽

2021 ◽

pp. 1-8

Author(s):

Jacqueline Dominguez ◽

Arlene Ng ◽

Jeryl Yu ◽

Anne Cristine Guevarra ◽

Maria Luisa Daroy ◽

...

Keyword(s):

Frontotemporal Lobar Degeneration ◽

White Matter Hyperintensities ◽

Autosomal Dominant ◽

The Philippines ◽

Vascular Risk ◽

Case Presentation ◽

Nonfluent Aphasia ◽

Protein Tau ◽

Review Reports ◽

Progressive Nonfluent Aphasia

Background: Compared to Western populations, familial frontotemporal lobar degeneration (FTLD) is rare among Asians. Progranulin (GRN) gene mutation, which is a major cause of FTLD, is likewise rare. We present a family with FTLD from the Philippines with an autosomal dominant pattern of inheritance and GRN mutation and briefly review reports of GRN mutations in Asia. Case Presentation: The proband is 66 years old with progressive nonfluent aphasia (PNFA)-corticobasal syndrome . We assessed 3 generations of her pedigree and found 11 affected relatives with heterogenous phenotypes, usually behavioral variant frontotemporal dementia (FTD) and PNFA. Neuroimaging showed atrophy and hypometabolism consistent with FTD syndromes. White matter hyperintensities were seen in affected members even in the absence of vascular risk factors. A GRN mutation R110X was found in 6 members, 3 with symptoms and 3 were asymptomatic. Plasma GRN was low (<112 ng/mL) in all mutation carriers. No mutations were found in microtubule-associated protein tau, APP, PSEN1, and PSEN2 genes, and all were APOE3. Conclusion: This is the first Filipino family with autosomal dominant FTD documented with GRN mutation. Identifying families and cohorts would contribute to therapeutic developments in an area with FTD-GRN.

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Rare presentation of Limb Body Wall Complex in a Neonate: Case report and review of literature

American Journal of Perinatology Reports ◽

10.1055/a-1740-5463 ◽

2022 ◽

Author(s):

Omoloro Adeleke ◽

Farrukh Gill ◽

Ramesh Krishnan

Keyword(s):

Body Wall ◽

Anorectal Malformations ◽

Epidemiologic Studies ◽

Normal Male ◽

Rare Occurrence ◽

Pathological Findings ◽

Review Of Literature ◽

Rare Presentation ◽

Case Presentation ◽

Clinical Presentations

The Limb Body Wall Complex (LBWC) aka. Body Stalk Syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary, anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has fatal prognosis.

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Copy number variation in MODY diabetes - Familial case presentation

Genetics & Applications ◽

10.31383/ga.vol2iss2pp73-77 ◽

2018 ◽

Vol 2 (2) ◽

pp. 73

Author(s):

Naida Lojo-Kadric ◽

Zelija Velija Asimi ◽

Jasmin Ramic ◽

Ksenija Radic ◽

Lejla Pojskic

Keyword(s):

Insulin Secretion ◽

Copy Number ◽

Autosomal Dominant ◽

Single Gene ◽

Maturity Onset Diabetes ◽

Dominant Form ◽

Case Presentation ◽

Monogenic Diseases ◽

Number Variation ◽

Autosomal Dominant Form

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.

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Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

Frontiers in Pediatrics ◽

10.3389/fped.2021.737633 ◽

2021 ◽

Vol 9 ◽

Author(s):

Guan-nan He ◽

Xue-yan Wang ◽

Min Kang ◽

Xi-min Chen ◽

Na Xi ◽

...

Keyword(s):

Septal Defect ◽

Autosomal Dominant ◽

Novel Mutation ◽

Splice Donor ◽

Autosomal Dominant Disorder ◽

Cubitus Valgus ◽

Case Presentation ◽

Whole Exome ◽

The Right ◽

Tbx5 Gene

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China.Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.

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A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia

European Journal of Neurology ◽

10.1046/j.1468-1331.1999.650605.x ◽

1999 ◽

Vol 6 (5) ◽

pp. 605-608 ◽

Cited By ~ 2

Author(s):

Elena D. Markova ◽

Pyotr A. Slominsky ◽

Sergei N. Illarioshkin ◽

Natalya I. Miklina ◽

Svetlana N. Popova ◽

...

Keyword(s):

Autosomal Dominant ◽

Novel Mutation ◽

Gtp Cyclohydrolase I ◽

Gtp Cyclohydrolase ◽

Clinical Presentations ◽

I Gene

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A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene

Movement Disorders Clinical Practice ◽

10.1002/mdc3.12999 ◽

2020 ◽

Vol 7 (6) ◽

pp. 688-692 ◽

Cited By ~ 2

Author(s):

Prashanth L. Kukkle ◽

Thenral S. Geetha ◽

Anita Mahadevan ◽

Vedam L. Ramprasad

Keyword(s):

Vocal Cord ◽

Autosomal Dominant ◽

Prnp Gene ◽

Vocal Cord Palsy ◽

Autosomal Dominant Ataxia ◽

Dominant Ataxia

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Postoperative Hardware-Related Infection from Kytococcus schroeteri: Its Association with Prosthetic Material and Hematological Malignancies—A Report of a Case and Review of Existing Literature

Case Reports in Infectious Diseases ◽

10.1155/2019/6936472 ◽

2019 ◽

Vol 2019 ◽

pp. 1-4

Author(s):

Aditya S. Shah ◽

Prakhar Vijayvargiya ◽

Sarah Jung ◽

John W. Wilson

Keyword(s):

Hematological Malignancies ◽

Prosthetic Valve Endocarditis ◽

Human Infection ◽

Prosthetic Material ◽

Commensal Bacterium ◽

Case Presentation ◽

Osteoarticular Infections ◽

Clinical Presentations ◽

Kytococcus Schroeteri ◽

Susceptibility Profiles

Introduction. Kytococcus schroeteri is an infrequently isolated Gram-positive coccus often encountered as a commensal bacterium. Only eighteen cases of human infection associated with this organism have been previously reported. Most of these cases involved patients with implanted prosthetic materials or patients with immunosuppressive conditions. It has been described in prosthetic valve endocarditis and in select patients with hematologic diseases but only one prior report as being involved in osteoarticular infections. Case Presentation. We describe a case of postsurgical osteoarticular hardware-related infection by K. schroeteri and discuss a possible association with implanted prosthetic material. Conclusion. Other clinical presentations of K. schroeteri, including reported infection syndromes, antimicrobial susceptibility profiles, and treatment outcomes, are also reviewed.

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