CR-15

Early Growth Hormone Administration in the Treatment of Prader-Willi Syndrome: A Case Report

1Salimi-Tari M, 2Hubsch H
1Nova Southeastern University College of Osteopathic Medicine, Miami, Florida, USA; 2Memorial West Hospital, Pembroke Pines, Florida,

Title: Early Growth Hormone Administration in the Treatment of Prader-Willi Syndrome: A Case Report
Authors: Maryam Salimi-Tari, OMS-III*; Hans Hubsch, MD.
Memorial West Hospital
Introduction : Prader-Willi Syndrome (PWS) is a rare genetic condition that is characterized by hypotonia, hyperphagia, delayed growth development, undeveloped genitals, and mild-moderate intellectual impairment. In addition, some features are commonly seen such as narrow forehead, almond shaped eyes, short stature, and small hands and feet. PWS is a genetic disorder that occurs in 1 every 15,000 children that are born. It is caused by a loss of function in genes on paternal chromosome 15. The loss of function of the gene can be caused by deletion (70%), uniparental disomy (10-15%), or imprinting mutation (<5%). The genes that have lost function normally produce proteins known as small nucleolar RNA (SNRNA). In the past, PWS was diagnosed clinically, however it is now diagnosed by genetic testing using DNA methylation testing. Screening early on with infants that present hypotonia can help with early intervention by supplementing growth hormone and consulting with a nutritionist.

Case Presentation: We present a case of a newborn infant who was born preterm at 33 weeks by C-Section with an APGAR score of 5 at 5 min, and 10 at 8 min. Infant was 1880 grams at birth, and presented with left brachial plexus injury, ASD, prenatal anemia, Tethered Cord Syndrome, and bacterial sepsis. Mother of infant was positive for GBS and E.coli of a urinary tract infection. Immediately after birth, decrease in muscle strength was noted more so in the left extremities. A series of lab tests were done to rule out any metabolic or hematologic disorder. The next option to evaluate was genetic testing, which was positive for Prader-Willi Syndrome. Infant was in NICU for 35 days secondary to pulmonary infection complicated by respiratory distress. After being seen by pediatrician in an outpatient clinic, infant was referred to endocrinologist to discuss possible evaluation of growth hormone treatment. Infant was recommended somatotropin at 4 months.

Discussion: This case illustrates the benefits of administering growth hormone at earlier age for a child with Prader-Willi syndrome.

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