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KMID : 0361720120230020095
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Korean Journal of perinatology
2012 Volume.23 No. 2 p.95 ~ p.100
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Neonatal Presentation of Prader-Willi Syndrome
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Baek Sang-Hun
Ahn So-Yoon
Lee Myung-Sook
Han Young-Mi
Sung Se-In
Shim Jae-Won
Hwang Jong-Hee
Jin Dong-Kyu
Park Won-Soon
Chang Yun-Sil
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Abstract
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Purpose: In Korea, neonatal clinical features and feeding pattern are not reported systematically. So we report the neonatal presentation of Prader-Willi syndrome.
Methods: This is a retrospective study of 14 neonate with Prader-Willi syndrome whose diagnosed in neonatal intensive care unit, Samsung Medical Center between January 1st 1997 and December 30th 2011.
Results: The birth characteristics of patients, maternal age was 31.5+/-4.5 years and 5 (35.7%) were primiparous. Oligohydramnios were reported in 2 cases (14.2%), polyhydramnios were reported in 4 cases (28.5%). 5 pregnancies (35.7%) had complained that decreased fetal movements. Mean gestational age were 38.1+/-2.2 weeks and 12 patients (85%) were term infants, one patient (7.1%) was post term infant, the other patient was preterm infants (7.1%). The average weight at birth were 2509.0+/-442.5 grams. All 14 patients (100%) had hypotonia and a weak cry at birth. 9 patients (64.5%) had the characteristic facial dysplasia. In all, nine male patients (100%) had cryptorchidism. All patients had weak sucking power, so they started to eat via nasogastric tube at birth. The mean duration of use nasogastric tube were 3.2+/-2.0 months. The median age of diagnosis were 1.5 months. 7 cases (50%) were diagnosed within one month of life. Median time of starting GH treatment was 2.0 years. The mean interval of from diagnosis to treatment of growth hormone were 2.2+/-2.0 years.
Conclusion: Early diagnosis of Prader-Willi syndrome is a very important to improve long-term prognosis.
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KEYWORD
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Newborn, Prader-Willi syndrome, Phenotype, Diagnosis, Growth hormone
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