Korean J Perinatol.
2012 Jun;23(2):95-100.
Neonatal Presentation of Prader-Willi Syndrome
- Affiliations
-
- 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. cys.chang@samsung.com
- 2Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan Universtiy School of Medicine, Seoul, Korea.
- 3Department of Pediatrics, Ilsan Paik Hospital, Inje University School of Medicine, Koyang, Korea.
Abstract
- 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.
Keyword
MeSH Terms
-
Cryptorchidism
Early Diagnosis
Feeding Behavior
Female
Fetal Movement
Gestational Age
Growth Hormone
Humans
Infant
Infant, Newborn
Infant, Premature
Intensive Care, Neonatal
Korea
Male
Maternal Age
Muscle Hypotonia
Oligohydramnios
Parturition
Phenotype
Polyhydramnios
Prader-Willi Syndrome
Pregnancy
Prognosis
Retrospective Studies
Growth Hormone
