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Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.
Neurogenetics
November 2024
Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running.
View Article and Find Full Text PDFNovel, likely pathogenic variant in associated with Menkes disease diagnosed with ultrarapid genome sequencing.
BMJ Case Rep
October 2024
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA
Article Synopsis
- - Menkes disease is a serious neurodegenerative disorder caused by problems with copper absorption, marked by symptoms like 'kinky' hair and developmental delays starting at 2-3 months old, and it follows an X-linked recessive inheritance pattern.
- - Historically, diagnosing Menkes has been challenging due to variable symptoms, often taking months, but new ultrarapid genome sequencing technology allows for quicker DNA-based diagnoses in just hours.
- - Recent case studies have used this sequencing tech to identify new genetic variants related to Menkes disease, paving the way for faster treatment and potentially better long-term health outcomes.
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.
Neurol Sci
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Menkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age of three. Mild MD and occipital horn syndrome are variants of MD characterized by a less severe phenotype and longer survival.
View Article and Find Full Text PDFBrain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review.
BMC Pediatr
June 2024
Department of Radiology, West China Second University Hospital of Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Article Synopsis
- Menkes disease is a rare genetic disorder that affects copper metabolism, leading to various health issues, particularly in the nervous system and connective tissues.
- Diagnostic markers like serum copper and ceruloplasmin levels are unreliable, making imaging techniques crucial for identifying the disease.
- A case study of a 4-month-old boy highlighted significant neurological symptoms and imaging findings, confirming Menkes disease through genetic testing, but unfortunately, treatment did not improve his condition, resulting in his death three months later.
[Not Available].
Arq Neuropsiquiatr
May 2024
Rady Children's Hospital, San Diego California, United States.
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