Zellweger Syndrome: A Case Report.
JNMA J Nepal Med Assoc
; 62(270): 155-157, 2024 Feb 24.
Article
en En
| MEDLINE
| ID: mdl-38409970
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Zellweger
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Trastorno Peroxisomal
Límite:
Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
JNMA J Nepal Med Assoc
Año:
2024
Tipo del documento:
Article
País de afiliación:
Nepal