Last update:
21-May-2008

An 18-year-old young patient was referred to the emergencies department due to dizziness, vertigo and low back pain (lumbago) with sciatica. The patient presented with right torticollis and Turner-like phenotype. Detailed clinical and additional laboratory and paraclinical examinations were performed. The patient was characterized by converging squint, myopia, low accretion of both ears and fin of nape. Neurological and otolaryngological evaluation was found normal. Moreover, the patient had various skeletal abnormalities (scaphoid thorax, scoliosis of vertebral column, degenerative spinal cord arthritis, cervical sides, semi-thoracic vertebra, spina bifida T₁₁, T₁₂, L₅). The cardiological evaluation with ultrasound revealed dysplastic rear aspect of the tricuspid valve. Additionally, the patient had bilateral cryptorchidism during infancy. Dizziness and vertigo were attributed to skeletal abnormalities of the cervical vertebrae. The particular phenotype led to additional examinations with spermodiagram and cytogenetic control, both with normal results. The final diagnosis was “Noonan’s syndrome”. There are no specific laboratory or paraclinical diagnostic methods and the final diagnosis is based only to clinical characteristics. Most of patients with Noonan’s syndrome remain undiagnosed due to atypical symptoms and signs and lack of knowledge of the specific syndrome from the physicians.

Key words: Noonan’s syndrome, Ρseudo-Turner syndrome, Turner-like syndrome.