Noonan Syndrome with Multiple Lentigines: A rare Hereditary Multisystem Disorder
Abstract Noonan syndrome with multiple lentigines (NSML) is a rare hereditary disorder that was previously known as LEOPARD syndrome. We present a 24-year-old woman with hundreds of lentigines all over her body, wide-apart eyes, deafness, and an inability to talk since her childhood. Her hearing test revealed sensorineural deafness. She had a concentric type of cardiomyopathy in the echocardiographic report. Clinically she was labeled as Noonan syndrome with multiple lentigines. She had presented with greying of scalp hairs, which was a unique feature of such a case. Around 200 NSML cases were found worldwide. To the best of our knowledge, this is the first case of a patient with NSML presenting with grey hair. Keywords: Noonan syndrome with multiple lentigines, LEOPARD syndrome |