title: Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.
abstract: Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. Increased levels of very long chain fatty acids are the biochemical hallmark and the most common mutations found in the PEX1 gene. We report an unusual presentation of Zellweger syndrome in a 2-month-old female infant with severe malnutrition, opportunistic infections, lymphopaenia and a small thymic shadow on chest radiography. With this clinical picture, an initial hypothesis of primary immunodeficiency was considered. It was later confirmed to not be the case. On follow-up, global developmental delay, bilateral optic nerve atrophy and moderate bilateral sensorineural deafness grade II were documented. There were no further infectious complications and we concluded malnutrition was the cause of the infant's immunocompromised state.
authors.affiliation: Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Cardoso
authors.affiliation: Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Maria Emanuel
authors.initials: ME
authors.lastname: Amaral
authors.affiliation: Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Sónia
authors.initials: S
authors.lastname: Lemos
authors.affiliation: Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Garcia
mesh_terms: D005260:Female; D006801:Humans; D016867:Immunocompromised Host; D007223:Infant; D007228:Infant Nutrition Disorders / Q000209:etiology*; D008231:Lymphopenia / Q000000981:diagnostic imaging / Q000209:etiology; D009894:Opportunistic Infections / Q000209:etiology*; D015211:Zellweger Syndrome / Q000150:complications* / Q000276:immunology*