Clinical Insights and Diagnostic Clues in Farber’s Disease: Unveiling the Path to Diagnosis”

Dr. Venumadhav, Dr.sheela (Paed Genetics) Dr. C. JayakumarDepartment of Pediatrics, Amrita Institute of Medical Sciences A six-year-old male, the first child of non-consanguineous parents, presented to the outpatient department with a history of involuntary shock-like jerks, which were notably absent during sleep. The parents also reported the presence of abnormal swellings over the bony prominences Read More …

Case of Neurofibromatosis with calcified psuedocapsule

Dr.Ch Venkat Kumar Raju, Dr.Suma Balan,(Paed Rheumato) Dr.Thadi Mohan;ORTHO), Dr.C JayakumarDepartment of Pediatrics, Pediatric rheumatology, OrthopaedicsAmrita Institute of medical sciences  Five and a half  year-old presented with swelling on the right leg for 1 month. It started as a small reddish swelling, then gradually increasing in size. No other significant past historyHis development, diet, Immunisation history Read More …

A SPELL OF DUCHENNE  

Dr.Subbulakshmi P S, Dr.Sheela Nampoothiri, Dr.Dhanya Yasodharan, (Paed Genetics)Dr.C. JayakumarAIMS, Kochi Six years old male child presented with difficulty in climbing and takes support of the rails for the past 3 years.He also had difficulty in getting up from sitting position for 2 years. No history of muscle fasiculations /trauma /seizures/ urinary discoloration was noted.He Read More …

Unmasking DRESS : The hidden side effects of Carbamazepine

Dr.Sruthi Suresh, Dr.C.Jayakumar, Dr.Praveena Department of PaediatricsAmrita Institute of Medical Sciences, Kochi  Sixteen year old female child, known case of Paroxysmal Kinesigenic Dyskinesia who was on Carbamazepine, developed high grade, intermittent fever and on third day of fever she developed swelling of face along with pruritic rash which started on face and ear and gradually spread Read More …