1/2. Treatment of macroglossia in beckwith-wiedemann syndrome.A case of macroglossia caused by Beckwith Wiedemann syndrome is reported. beckwith-wiedemann syndrome is an overgrowth disorder characterized by a constellation of congenital anomalies. The most common manifestations are omphalocele, macroglossia, gigantism, and visceromegaly. When the tongue reaches a huge dimension, clinical symptoms are represented by dysphagia, alterations in speech, difficulty in chewing, obstruction of the upper airways, and psychologic consequences derived from the patient's physical appearance. The authors describe the surgical strategy performed in the reported case.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/2. rhabdomyosarcoma, wilms tumor, and deletion of the patched gene in Gorlin syndrome.BACKGROUND: A 5-year-old year girl with a medical history of mental retardation, physical abnormalities and a known interstitial deletion of chromosome 9q22-q32 presented with a palpable suprapubic mass. During ultrasound investigation, a left renal mass was also detected. The patient underwent surgical removal of both neoplasms, which were diagnosed as a rhabdomyosarcoma and a wilms tumor. Seven years later, she presented with macroglossia and a benign mandibular cyst. INVESTIGATIONS: physical examination, karyotyping, abdominal and pelvic ultrasound, brain CT scan, anatomic pathology analysis with immunohistochemistry, and typing of polymorphic markers in the patched (PTCH) gene region. diagnosis: Gorlin syndrome with synchronous rhabdomyosarcoma and wilms tumor. MANAGEMENT: Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |