ESPE Abstracts

Background: Melnick-Needles syndrome (MNS), a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is caused by mutation of the gene FLNA, which results in disrupted production of filamin A and affects skeletal development. Short stature can be one of the clinical features of MNS.

Case presentation: An 8-year-old girl who underwent multiple surgeries for gait disturbance was referred to the department of pediatric endocrinology for short stature. Her body weight and height at the first visit was 18kg (-3.24SD) and 118.3cm (-2.56SD), respectively. Delayed bone age and multiple bony anomalies were noted in the X rays of facial, skeletal, and extremities. Peak growth hormone (GH) levels performed by insulin-stimulation test and arginine-induced test were 4.18 ng/mL and 2.11 ng/mL, respectively. Growth hormone treatment was begun with dose of 2.67-3.33mg/week. Annual growth velocity which was 3.6 cm prior to GH treatment, improved to 6.9 cm/year, 7.7 cm/year, and 7.3 cm/year during the 1st, 2nd, and 3rd year of GH treatment, respectively. Recent height was 140.2 cm (-1.71 SDS). Weight also improved from 17.4 kg (-3.51 SDS) to 27.4 kg (-2.53 SDS).

Conclusion: Patients with MNS need multidisciplinary supports to enhance their quality of life. It is important to evaluate growth and growth velocity periodically with the suspicion of GH deficiency. This case showed that 3-year GH treatment was beneficial to enhance the growth velocity in MNS.