Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome / 소아과

PURPOSE: The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. METHODS: The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. RESULTS: The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more physical stigmata. Chromosome breakage tests were positive in 9 out of 11 available patients. The median follow-up duration was 69.5 months. The Kaplan-Meier (KM) survival of all patients was 83.3% at 10 years and 34.7% at 20 years, respectively. Seven patients underwent 9 stem cell transplantations (SCTs). Among them, 5 were alive by the end of the study. Ten-year KM survival after SCT was 71.4% with a median follow-up of 3.4 years. All 5 patients treated with supportive treatment alone died of infection or progression at the median age of 13.5 years, except for one with short follow-up duration. Acute leukemia developed in 2 patients at 15.4 and 18.1 years of age. Among 6 patients who are still alive, 3 had short stature and 1 developed insulin-dependent diabetes mellitus. CONCLUSION: We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.

Change in Blood Pressure and Pulse Pressure in Preterm Infants After Treatment of Patent Ductus Arteriosus With Indomethacin

BACKGROUND AND OBJECTIVES: Patent ductus arteriosus (PDA) is associated with increased morbidity and mortality in premature infants. Therefore, an early diagnosis and treatment of a hemodynamically significant PDA are very important. A widened pulse pressure is considered to be a well known clinical sign of a PDA in older infants and children; however, whether this is also applicable in the case of preterm infants remains to be confirmed. The aims of this study were to investigate the change in blood pressure (BP) before and after medical treatment of a PDA with indomethacin and to evaluate if the change in the pulse pressure in preterm infants with a medically treated PDA could be used as a reliable clinical predictor of a hemodynamically significant PDA. SUBJECTS AND METHODS: Between January 2005 and June 2009, a retrospective analysis was performed in preterm infants with a hemodynamically significant PDA (PDA group, n=72) and preterm infants without a PDA (control group, n=72) at the Chonnam National University Hospital Neonatal Intensive Care Unit. The PDA was closed by treatment with indomethacin. The BP was compared between the two groups over the seven days after the first dose of indomethacin. RESULTS: In preterm infants with a hemodynamically significant PDA, the mean systolic (55.1+/-6.0 mmHg) and diastolic BPs (31.4+/-6.2 mmHg) were lower than those in the controls (mean systolic BP 58.0+/-6.4 mmHg, mean diastolic BP 34.7+/-6.0 mmHg) before indomethacin treatment. When the ductus arteriosus was successfully closed by indomethacin treatment, there was a gradual increase in both the systolic and diastolic BPs without any change in the pulse pressure. CONCLUSION: The results of this study show that a widened pulse pressure is not a useful clinical sign of a hemodynamically significant PDA in preterm infants. However, low systolic and diastolic BPs may be useful clinical signs of a hemodynamically significant PDA in preterm infants. If the systolic and diastolic BP is low, a PDA should be considered and echocardiography should be performed for early diagnosis and treatment.

Three Cases of Acute Ophthalmoplegia without Ataxia

Acute ophthalmoplegia is caused by various etiologies; cerebrovascular diseases, tumors, infections, diabetes mellitus, multiple sclerosis, and myasthenia gravis. Acute ophthalmoplegia without ataxia(AO), regarded atypical Miller-Fisher syndrome, can be defined as a progressive, relatively symmetric ophthalmoplegia by 4 weeks without ataxia or limb weakness, on circumstance of ruling-out other diseases. The additional features that are strongly supportive of the diagnosis of AO are as follows: 1) a history of infectious symptoms within 4 weeks before the onset of neurological symptoms; 2) cerebrospinal fluid albuminocytologic dissociation; and 3) presence of anti-GQ1b IgG antibody. AO has been sporadically reported, but there is still short of information for its clinical and laboratory characteristics in children. We report three children with AO, who were presented with acute ophthalmoplegia without other abnormal neurologic symptoms. All of the patients met the diagnostic criteria of AO, but only one of them had a positive serum anti-GQ1b antibody. So, we need to suspect the diagnosis of AO, even in the cases with negative result of serum anti-GQ1b antibody.