We did not perform bronchoscopy for our patient, so we could not report the level of LTB in bronchoalveolar lavage fluid. He had past history of atopic dermatitis in neonatal period and early infancy but examination for allergic sensitization had not been performed for him. In addition he responded to the inhaled corticosteroid and bronchodilator and his respiratory signs and symptoms were controlled with these drugs, every time he experienced acute attacks of wheezing. According to Global Initiative for Asthma guideline the diagnosis of asthma is highly suggested in under 5-year group if frequent episodes of wheeze, nocturnal cough in periods without viral infections, and absence of seasonal variation in wheeze has occurred as did occurred in our patient 9). The diagnosis of asthma in early childhood is challenging, and is based largely on clinical judgment, assessment of symptoms, and physical findings. As far as we are aware, this is the first report of SLS associated with asthma, and recurrent pneumonia. Herein, we report a case of SLS with recurrent pneumonia, and asthma, probably due to increased level of LTB4. An increased level of LTB4 has been reported in SLS patients 6). With regards to FALDH, leukotriene B4 (LTB4) is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma and is the substrate for the FALDH enzyme 6). In particular, FALDH dysfunction leads to impaired oxidation of fatty aldehyde to fatty acid and accumulation of fatty alcohols, aldehyde-modified macromolecules, and development of high concentrations of biologically active lipids that have been assumed to be responsible for SLS manifestations 5). This enzyme catalyzes the oxidation of fatty aldehyde to fatty acid. ALDH3A2 gene mutation is recognized as the key defect in SLS, which leads to deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH) 4). Worldwide incidence is estimated to be 0.4 per100, 000 people 3). The prevalence of SLS is 1 per 250,000 individuals in Sweden where this syndrome was first observed 1). Most individuals with SLS have leukoencephalopathy, which may contribute to its neurological signs and symptoms. Seizure, short stature, developmental delay, dysarthria, and pigmentary degeneration in the macular region of the retina (Glistening white dots), are other findings which may be associated with this syndrome 2). Sjogren-Larsson Syndrome (SLS) is a rare autosomal recessive, neuro-cutaneous disorder characterized by a triad of ichthyosis, spastic diplegia or quadriplegia, and mental retardation 1). Key words: Asthma, Ichthyosis, Leukotriene B4, Recurrent pneumonia, Sjogren-Larsson syndrome
In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. An increased level of leukotriene B4 has been reported in SLS patients. 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. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene.
Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people.
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