A Case of Smith-Magenis Syndrome with Multiple Organ Malformations

Smith-Magenis syndrome (SMS) is a genetic disease caused by microdeletion of p11.2 in chromosome 17. SMS patients have characteristic facial features and accompanying congenital malformations involving the brain, cardiovascular system, and urinary tract. Compared with the distinctive facial characteristics, organ malformations are less common. Several cases of SMS with tetralogy of Fallot have been reported in Korea, none of which were accompanied by other organ malformations. We present the first case report in Korea of an SMS patient with malformations of the brain, heart, and urinary tract.

Case Report of Neonatal Proteus mirabilis Meningitis and Brain Abscess with Negative Initial Image Finding: Consideration of Serial Imaging Studies

Proteus mirabilis (P. mirabilis) meningitis in a neonate is rare, but its recognition is important because the disease progresses rapidly and has poor prognosis. A 4-day-old premature female infant born at 36 weeks and 5 days of gestation presented with symptoms of fever and icteric skin. Initial cerebrospinal fluid findings suggested bacterial meningitis, and treatment with antibiotics was started. On the third day, P. mirabilis growth was found in both blood and cerebrospinal fluid cultures and brain computed tomography revealed normal findings. The patient showed improved clinical symptoms, but brain magnetic resonance imaging on hospital day 18 revealed a brain abscess measuring 4.5×3.1×3.1 cm in the right frontal lobe. Cyst drainage was performed immediately and a catheter was inserted. Follow-up computed tomography revealed a tiny abscess remaining in the right frontal lobe, and follow-up magnetic resonance imaging later demonstrated marked interval regression in the size of the abscess. The patient was discharged on day 57 of hospitalization in good condition. Serial brain imaging should be considered in neonatal cases of P. mirabilis meningitis.