Cargando…

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters

PURPOSE: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. OBSERVATIONS: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence. They were referred with a presumed diagnosis of Leber's He...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rotsos, Tryfon, Papakonstantinou, Evangelia, Symeonidis, Chrysanthos, Krassas, Augoustinos, Kamakari, Smaragda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892096/ https://www.ncbi.nlm.nih.gov/pubmed/35252627 http://dx.doi.org/10.1016/j.ajoc.2022.101452

Ejemplares similares

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
por: Sobhani, Maryam, et al.
Publicado: (2020)

A Case of Wolfram Syndrome
por: Naderian, Gholamali, et al.
Publicado: (2010)

Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports
por: Manaviat, Masoud Reza, et al.
Publicado: (2009)

Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis
por: Alexopoulos, Palaiologos, et al.
Publicado: (2023)

Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump
por: Cardona, Manuela, et al.
Publicado: (2023)

Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
por: Sobhani, Maryam, et al.
Publicado: (2020)

Two Sisters with Angelman Syndrome: A Case Series Report
por: Kocaoğlu, Çelebi
Publicado: (2017)

Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes
por: Silvestri, Francesca, et al.
Publicado: (2022)

Wolfram syndrome with a rare genetic mutation - Case report
por: Caculo, Divya U, et al.
Publicado: (2022)

Metabolic Treatment of Wolfram Syndrome
por: Iafusco, Dario, et al.
Publicado: (2022)

Atypical presentations of Wolframs syndrome
por: Saran, S., et al.
Publicado: (2012)

Wolfram syndrome: MAMs’ connection?
por: Delprat, Benjamin, et al.
Publicado: (2018)

Sleep disturbances in Wolfram syndrome
por: Licis, Amy, et al.
Publicado: (2019)

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies
por: Toppings, N. B., et al.
Publicado: (2018)

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
por: Rigoli, Luciana, et al.
Publicado: (2022)

A case of Wolfram syndrome with chronic renal failure
por: Korkmaz, Hüseyin Anıl
Publicado: (2018)

Wolfram syndrome type 1: a case series
por: Du, Danyang, et al.
Publicado: (2023)

Psychiatric Diagnoses and Medications in Wolfram Syndrome
por: Reiersen, Angela M., et al.
Publicado: (2022)

Early Brain Vulnerability in Wolfram Syndrome
por: Hershey, Tamara, et al.
Publicado: (2012)

Phenotypic characteristics of early Wolfram syndrome
por: Marshall, Bess A, et al.
Publicado: (2013)

Wolfram Syndrome: Diagnosis, Management, and Treatment
por: Urano, Fumihiko
Publicado: (2016)

Longitudinal hearing loss in Wolfram syndrome
por: Karzon, Roanne, et al.
Publicado: (2018)

Taste and smell function in Wolfram syndrome
por: Alfaro, Raul, et al.
Publicado: (2020)

Two Sisters with Mal de Meleda: Case Series Report
por: Cebeci, Dua, et al.
Publicado: (2022)

Glycogen storage disease in two sisters: A case report
por: Twanabasu, Sajal, et al.
Publicado: (2023)

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
por: Li, Min, et al.
Publicado: (2018)

Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome
por: Galvez-Ruiz, Alberto
Publicado: (2015)

Spontaneous traumatic macular hole closure in a 50-year-old woman: a case report
por: Nasr, Mayssa B, et al.
Publicado: (2011)

Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness
por: Carvalho, Margarida M, et al.
Publicado: (2023)

Report of two sisters with Netherton syndrome successfully treated with dupilumab and review of the literature
por: Martin-García, Cristina, et al.
Publicado: (2023)

Wolfram Syndrome 1: From Genetics to Therapy
por: Rigoli, Luciana, et al.
Publicado: (2022)

Petrified heart in a patient with Wolfram Syndrome
por: Siani, Agnese, et al.
Publicado: (2022)

Wolfram Syndrome: New Mutations, Different Phenotype
por: Aloi, Concetta, et al.
Publicado: (2012)

Early presentation of gait impairment in Wolfram Syndrome
por: Pickett, Kristen A, et al.
Publicado: (2012)

Selective cognitive and psychiatric manifestations in Wolfram Syndrome
por: Bischoff, Allison N., et al.
Publicado: (2015)

Genomics of Wolfram Syndrome 1 (WFS1)
por: Kõks, Sulev
Publicado: (2023)

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
por: Lee, Jinhee, et al.
Publicado: (2022)

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review
por: Jauregui, Ruben, et al.
Publicado: (2023)

Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report
por: Tang, Yong, et al.
Publicado: (2023)

Macular hole formation in a patient with Irvine-Gass syndrome: coincidence or rare complication?
por: Moschos, Marilita M, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_vo6ggcefpp62m2rj9j20m6b95m