دورية أكاديمية
Zellweger Syndrome: A Case Report.
| العنوان: | Zellweger Syndrome: A Case Report. |
|---|---|
| المؤلفون: | Yogi P; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Bahik C; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Yadav R; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Bhattarai P; Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Pandey R; Sindhuli Hospital, Kamalamai, Sindhuli, Nepal., Manandar SR; Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal. |
| المصدر: | JNMA; journal of the Nepal Medical Association [JNMA J Nepal Med Assoc] 2024 Feb 24; Vol. 62 (270), pp. 155-157. Date of Electronic Publication: 2024 Feb 24. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nepal Medical Association Country of Publication: Nepal NLM ID: 0045233 Publication Model: Electronic Cited Medium: Internet ISSN: 1815-672X (Electronic) Linking ISSN: 00282715 NLM ISO Abbreviation: JNMA J Nepal Med Assoc Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Kathmandu : Nepal Medical Association Original Publication: [Kathmandu, 1963?]- |
| مواضيع طبية MeSH: | Zellweger Syndrome*/diagnosis , Zellweger Syndrome*/genetics , Peroxisomal Disorders*/genetics, Infant, Newborn ; Humans ; Male ; Infant ; Muscle Hypotonia/genetics ; Genetic Testing ; Mutation |
| مستخلص: | Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney. Common clinical presentations include hypotonia, seizure, hepatomegaly, craniofacial dysmorphism and early death. Mutation in one of the PEX genes coding for a peroxisome assembly protein creates a functionally incompetent organelle causing accumulation of very long chain fatty acids in various organs. Here we report the case of a 5-month-old male presented at birth with hypotonia, poor feeding, gross congenital anomalies and later during early infancy with failure to thrive, several episodes of seizures, aspiration due to feeding difficulties and recurrent severe pneumonia. A whole genomic sequencing brought us to the final diagnosis of Zellweger syndrome. Despite an absence of treatment options, prompt diagnosis of Zellweger syndrome is important for providing appropriate symptomatic care, definitive genetic testing and prenatal counselling. Keywords: case reports; mutation; neonate; Zellweger syndrome. |
| References: | Isr J Med Sci. 1988 Jun;24(6):319-24. (PMID: 3042692) Sudan J Paediatr. 2011;11(2):54-8. (PMID: 27493320) Neurology. 2013 May 14;80(20):e207-10. (PMID: 23671347) Cells. 2022 Jun 10;11(12):. (PMID: 35741019) Mol Genet Genomic Med. 2024 Jan;12(1):e2315. (PMID: 37962062) |
| تواريخ الأحداث: | Date Created: 20240227 Date Completed: 20240228 Latest Revision: 20240312 |
| رمز التحديث: | 20240312 |
| مُعرف محوري في PubMed: | PMC10924519 |
| DOI: | 10.31729/jnma.8467 |
| PMID: | 38409970 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1815-672X |
|---|---|
| DOI: | 10.31729/jnma.8467 |