RESUMEN
Sturge-Weber syndrome (SWS) is a rare neurocutaneous vascular disorder characterized by a facial birthmark known as a port-wine stain (PWS), eye abnormalities, and abnormal blood vessels in the brain. It is basically a multisystem disorder that can involve the nervous system, skin, and eyes (phakomatosis). We report a case of a 14-year-old female who presented to the outpatient department with a complaint of upper lip swelling. She had a visible PWS since birth on the left side of her face, which was extending onto the right side of the face as well. She had two episodes of paroxysmal hemiparesis that were four years apart. Moreover, she was diagnosed with epilepsy when she was three years old. She was treated for glaucoma as well when she was nine years old. She was diagnosed with SWS based on her medical history, grossly visible PWS, and neuroimaging findings. Treatment is mostly symptomatic, as no definitive treatment is yet available.
RESUMEN
A 22-year-old female presented to the surgical outpatient department with a complaint of left-breast hypoplasia. Upon physical examination, the left anterior chest wall was depressed, the left pectoral region was flattened, and the nipple was displaced. The absence of the pectoralis major sternocostal head was visible during shoulder abduction. Physical examination of the hands did not show any signs of ipsilateral digital abnormality. Chest X-ray revealed hyper translucent left-sided hemithorax with crowding of ribs and faint left breast soft tissue. A computed tomography scan (CT scan) reported a complete non-visualization of the left-sided pectoralis major, minor, and serratus anterior. Hence, a diagnosis of Poland syndrome involving left hemithorax in a female patient was established. The patient decided to have reconstructive surgery for purely cosmetic reasons.
