A CASE OF NEUROFIBROMATOSIS Dr.Phuntsho Choden1,Dr. IV Nagesh2 , Dr Rajat Govind Department of Internal Medicine Armed Forces Medical College, Pune INTRODUCTION NEUROFIBROMAS LAB PARAMETERS Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. At least 8 different clinical phenotypes of neurofibromatosis have been identified and are linked to at least two genetic disorders. Neurofibromatosis type I (NF-1) is the most common type of the disease accounting 90% of the cases, and is characterized by multiple café-au-lait spots and the occurrence of neurofibromas along peripheral nerves Hb 12.1 g/dl TLC 8500/cumm DLC 60/33 % PLT 2.10L/cumm UREA 27 mg/dl CREAT 0.6 mg/dl Na 136 mmol/l K 3.5 mmol/l Ca/PO4 9.3/3.4 mmol/l BIL (T/D) 0.9/0.4 mg/dl T PROTEIN 5.3 g/dl ALB/GLOB 3.4/2.4 g/dl AST/ALT/ALP 37/37/96 IU/l PT/PTTK/INR 13.6/30/1.07 BS F/PP 68/98 mg/dl TC/TG/LDL/HDL 152/84/89/46 HBsAg/Anti-HCV/HIV Negative URINE RE/ME NAD AXILLARY & INGUINAL FRECKLING LISCH NODULES - SLIT LAMP EXAMINATION ECG - RAD with RBBB. 2D ECHO reveals PS with normal LV function. CASE PRESENTATION A 43 years old male with WATSON SYNDROME is presented. The disease started at childhood at the age of 15 years with appearance of multiple nodular skin lesions of varying sizes over the body with h/o similar illness in his mother and daughter. He developed insidious onset gradually progressive dyspnoea on exertion for the past 5 years which made him seek medical attention. Clinically, Multiple neurofibromas of varying sizes, largest measuring 3X3cm were present mostly over the trunk and involving all four limbs, face, neck and head Multiple hyperpigmented macular patches were present Freckling of skin was present over the trunk, axilla and inguinal region Deformity of left elbow – ?Pseudoarthrosis CVS: Apex at the 4th ICS 3cm lateral to left MCL, LPSH +, S1 normal, wide split S2, Ejection click over pulmonary area, Gd III, ESM best heard over the pulmonary area DISCUSSION The patient described here is a typical case of NF-1, which is of considerable interest because of the high generalization of the skin, eye and bony lesion along with its association with congenital heart disease, what is known as ‘Watson Syndrome’. In such cases, a detailed patient investigation is required, because of the possibility for generalized involvement of other organs. The proper clinical and genealogic analysis is important for the determination of the genetic risk and prognosis for the relatives of the proband. The treatment of such kind of patient is surgical, seeking to achieve cosmetic improvement, and may be only palliative. X RAY – PSEUDOARTHROSIS CAFÉ – AU- LAIT SPOTS