Abstract
A 26-month-old boy was admitted because of recurrent fever, generalized erythematous rash, and joint pain. The fever persisted, and the joint pain waxed and waned. The combination of fever, erythematous rash, and joint pain suggested that the patient suffered from a childhood chronic inflammatory illness such as systemic juvenile idiopathic arthritis (sJIA) or chronic infantile neurological cutaneous and articular syndrome (CINCA, alternatively called neonatal-onset multisystem inflammatory disease or NOMID). However, neither of the conditions could explain the unique clinical features and the extraordinary laboratory findings seen in this patient. The patient had characteristic facial features such as flat nasal bridge, frontal bossing, and prominent edema of the eyelids. Marked hepatomegaly was noted, but the spleen was absent. Unlike most of patients with asplenia, this patient did not have any form of congenital heart disease. His brother and sister were healthy. The mother had experienced two intrauterine fetal deaths.
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Yachie, A. (2019). Heme Oxygenase-1 Deficiency. In: Oohashi, T., Tsukahara, H., Ramirez, F., Barber, C., Otsuka, F. (eds) Human Pathobiochemistry. Springer, Singapore. https://doi.org/10.1007/978-981-13-2977-7_7
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