Autosomal recessive osteopetrosis type 5
An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.
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#dermatologist #pediatrician *Chief Complaints* 1yr old baby boy came with c/o blister on whole body since 10 months ( age 1yr old baby) Baby is 3rd child of the couple. *History* H/o Father :- H/o balanatis since 4 months No other comorbidities Mother:- athletes foot infection
Hadi Nasir Sayyed0 Like7 Answers - Login to View the image
Diagnosis please.
Dr. Syam Sundar Patro0 Like10 Answers NCDs like heart disease, stroke, cancer, diabetes & chronic lung disease continues to be a major public health challenge in India. Chronic diseases like heart disease & cancer not only account for 63% of deaths in India but are expected to cost the country $3.55 trillion in lost economic output between 2012 and 2030. What is the major challenge for Chronic disease management in India?
Doc Insights6 Likes10 Answers- Login to View the image
33 YEAR FEMALE C/O LT. KNEE PAIN & MILD SWELLING from 2 3 months
Wahib Zaidi0 Like5 Answers - Login to View the image
60 Y male having LRTI symptoms, Underwent CT CHEST , now he is recovered with the Standard Rx. But I PICKED CIRRHOTIC LIVER FINDING on CT CHEST meanwhile Patient is ASYMPTOMATIC No C/O CLD yet. I advised to do USG ABDOMEN to check for Findings of DECOMPENSATION. & LFT also appears normal On USG adomen** 1) INCREASED ECHOGENICITY of Liver 2) DILATED PORTAL VEIN I think Radiologist interpretated it as FATTY LIVER GRADE 2, but Dilated portal Vein + increased Echogenicity should be S/O CLD Life style He is NON ALCOHOLIC , NON SMOKER PT INR , HEP B , HEP C Reports are awaited.
Wahib Zaidi1 Like5 Answers