We report the case of a 3.5-year-old boy who presented with truncal ataxia, microcephaly and delayed global development in infancy. Hypoplasia of cerebellum and corpus callosum and delayed myelination were found on brain MRI. Failure to thrive, sparse hairs and dystrophic nails became evident at the age of 2 years. He subsequently developed bleeding tendency, thrombocytopenia and hypocellularity on bone marrow examination leading to a diagnosis of dyskeratosis congenita. Impaired pain perception with slowing of nerve conduction velocities was demonstrated, suggesting a mild peripheral neuropathy. To the best of our knowledge, peripheral neuropathy has never been reported as a feature of the congenital form of dyskeratosis congenita.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejpn.2005.01.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].
Andes Pediatr
October 2024
Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
Unlabelled: Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure.
Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure.
Bilateral cytomegalovirus retinitis in a patient with dyskeratosis congenita.
Int J Ophthalmol
December 2024
Department of Ophthalmology, the Affiliated Hospital of Yunnan University, Kunming 650000, Yunnan Province, China.
"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.
JMIR Form Res
December 2024
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, United States.
Background: Web-based information and social support are commonly used in rare disease communities where geographic dispersion and limited provider expertise complicate in-person support. We examined web-based resource use among caregivers of individuals with telomere biology disorders (TBDs), which are rare genetic conditions with long diagnostic odysseys and uncertain prognoses including multiorgan system cancer risk.
Objective: This study explored internet-based information-seeking and social support practices and perspectives of patients with TBDs and their caregivers.
Hoyeraal-Hreidarsson syndrome: a case report of dyskeratosis congenita with a novel PARN gene mutation.
Ann Med Surg (Lond)
December 2024
University of Health Sciences, Adana Faculty of Medicine, Adana City Education and Research Hospital, Department of Pediatric Hematology and Oncology, Adana, Turkey.
Introduction And Importance: Dyskeratosis congenita (DC) is a rare multisystem disorder primarily characterized by bone marrow failure due to telomere shortening. Typical clinical features include oral leukoplakia, skin hyperpigmentation, and nail dystrophy, along with an increased risk of malignancies. Hoyeraal-Hreidarsson syndrome (HH), a severe variant of DC, is associated with profound neurological and immunological complications, emphasizing the importance of early diagnosis and genetic evaluation to guide appropriate management.
View Article and Find Full Text PDFTelomere function and regulation from mouse models to human ageing and disease.
Nat Rev Mol Cell Biol
November 2024
The Salk Institute for Biological Studies, La Jolla, CA, USA.
Telomeres protect the ends of chromosomes but shorten following cell division in the absence of telomerase activity. When telomeres become critically short or damaged, a DNA damage response is activated. Telomeres then become dysfunctional and trigger cellular senescence or death.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!