Posts

Showing posts from December 10, 2017

immunodeficiency

Image
One year old boy referred as a case of wiskott aldrich syndrome for work up . He was first born child to young muslim parents . Elder brother of mother died at seven years ,the details of which mother doesn't know, Her younger brother started having recurrent infections and bleeding since early months. He survived up to 13 year Her work up was done in CMC vellore . He was diagnosed as a case of wiskott aldrich syndrome. Bone marrow transplantation planned but not done as they didn't get a donor. By that time he succumbed to non hodgkin lymphoma . With this history parents thought the elder brother also had the same illness retrospectively. One important point is genetic studies of this patient case was negative for Wiskott aldrich syndrome Our one year old boy was born at term normal delivery with 2.8kg birth weight . His postnatal period normal and was perfectly normal up to six months. At six months he was hospitalised for fever cough with mild dyspnea which

Hemangioma

Image
Ten year old girl brought with bleeding lips. Past history of similar episodes of bleeding from lips. First impression with this history is Rendu osler weber syndrome .We had few cases of lesions on tongue, lips, finger tips associated with repeated hemoptysis. In her case parents detected swelling lips and lower half of face since four months of age, which grew for two years and later regressed. We searched for lesions in other parts of body No bleeding or lesions from nose ,gums. No hemetemesis ,malena, hematuria. No head ache seizures& Fundus examination was normal O/E. Intelligent girl ,well grown .Vitals stable, No neuro cutaneous markers. No other swellings apart from what is seen in the photographs (Lower lips and below left chin . Few different type of lesions verrucous were seen on the tongue both on the front and dorsal aspects. System examination  within normal limits. No bruits over internal organs , and over skull . Few learning points Even when there is