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A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma / 소아과
Korean Journal of Pediatrics ; : 276-279, 2016.
Article in English | WPRIM | ID: wpr-166336
ABSTRACT
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pneumonia / Quadriplegia / Asthma / Cerebral Palsy / Incidence / Sjogren-Larsson Syndrome / Sequence Deletion / Leukotriene B4 / Neurocutaneous Syndromes / Aldehyde Dehydrogenase Type of study: Incidence study / Prognostic study Limits: Child / Child, preschool / Humans / Male Language: English Journal: Korean Journal of Pediatrics Year: 2016 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pneumonia / Quadriplegia / Asthma / Cerebral Palsy / Incidence / Sjogren-Larsson Syndrome / Sequence Deletion / Leukotriene B4 / Neurocutaneous Syndromes / Aldehyde Dehydrogenase Type of study: Incidence study / Prognostic study Limits: Child / Child, preschool / Humans / Male Language: English Journal: Korean Journal of Pediatrics Year: 2016 Type: Article