A multidisciplinary approach to the clinical management of Prader–Willi syndrome -

a clinical case report

Alexandra Mirică1, Luiza Vitan2, Vasilica Plăiașu3, Mihaela Oros4
1 Grigore Alexandrescu Clinical Emergency Hospital for Children, Bucharest, 2 CF2 Clinical Hospital, Bucharest, 3 Alfred Russescu Clinical Hospital for Children, Bucharest, 4 Regina Maria Private Health Network , Bucharest

Background and Aims Prader–Willi syndrome (PWS) is a multisystem complex disorder present in 1/15,000–1/30,000 individuals that is caused by the loss of paternally
expressed genes on chromosome 15q11.2‐13.

Material and Methods

We present the case of a 3 year old boy diagnosed with Prader Willi syndrome , genetically confirmed (del 15q11.2) at the age of 2 years old.
The physical examination revealed small stature with height 81.5cm (-1.85ds), weight 13.8 kg (BMI- 99th percentile, Z score +2.25 ds), particular facies with almond‐shaped
palpebral fissures and a narrow bifrontal diameter, narrow eyelid slits, fish mouth, thin nose, convergent strabismus, brachydactyly, central hypotonia and bilateral
cryptorchidism.
The hormonal evaluation and metabolic parameters were normal. In addition orthopedic evaluation, general abdominal ultrasound, echocardiography and otorhinolaryngology
examination were within normal limits.
Polysomnographic evaluation indicated mild sleep apnea. Neurological examination indicated global developmental delay and central hypotonia.
We started treatment with recombinant growth hormone Omnitrope Somatropinum 0.5 mg daily (at doses of 0.5 mg / m2), with dose adjustment at 3-6 months depending on
clinical and biochemical response (IGF1 level), together with dietary measures., medical and physical recovery therapy. The hCG test (Pregnyl) was performed, with a normal
increase in testosterone levels, a sign of normal testicular function.
The clinical evolution was favorable with the improvement of the neuro-motor acquisitions and with a slight weight loss. The surgical treatment of bilateral cryptorchidism is
considered.
Parameters-units Values Normal values
ACTH (pg/ml) 12.22 7-63
Cortisol (nmol/l) 190 133-537
TSH (ui/ml) 1.39 0.5-4.5
ATPO (ui) 10 Nv<20
FT4 (pmol/l) 14 12.6-21
Prolactin (ui/ml) 350 Nv <324
IGF1 (ng/ml) 98 Nv <189

Conclusions PWS is a complex genetic condition with diagnosis and clinical management which involves many medical specialties, whose collaboration is essential for the
benefit of patients.

Keywords Prader Willi Syndrome