Résumé
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.
Sujets)
Enfant , Enfant d'âge préscolaire , Humains , Mâle , Aldehyde dehydrogenase , Asthme , Paralysie cérébrale , Ichtyose , Incidence , Déficience intellectuelle , Leucotriène B4 , Métabolisme , Biologie moléculaire , Syndromes neurocutanés , Pneumopathie infectieuse , Tétraplégie , Délétion de séquence , Syndrome de Sjögren-LarssonRésumé
Visceral leishmaniasis or kala-azar is an endemic parasitic disease in some parts of the world which is characterized by fever, splenomegaly, and pancytopenia in most of the cases. Herein we report an 11 month-old male infant with diagnosis of kala-azar who presented with pallor, hepatosplenomegaly, failure to gain weight, and no history of fever. Surprisingly, fever started after beginning of meglumine antimoniate treatment in this patient. As far as we are aware of, this is a rare presentation of visceral leishmaniasis. Therefore, clinicians especially in endemic areas are highly recommended to include kala-azar among differential diagnosis of unexplained anemia without fever to prevent misdiagnosis of this potentially fatal, but treatable condition.
Sujets)
Humains , Nourrisson , Mâle , Amphotéricine B/usage thérapeutique , Anémie/diagnostic , Antiprotozoaires/usage thérapeutique , Acide désoxycholique/usage thérapeutique , Diagnostic différentiel , Association médicamenteuse , Maladies endémiques , Fièvre , Iran , Leishmania infantum/pathogénicité , Leishmaniose viscérale/diagnostic , Méglumine/usage thérapeutique , Composés organométalliques/usage thérapeutique , Splénomégalie/parasitologieRésumé
A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest