Bloom Syndrome
Bloom syndrome is a rare autosomal recessive inherited disorder cause by multiply break and rearrangements in chromosomes characterized by short stature, telangiectases
Category: pediatrics
Cogan syndrome
Cogan syndrome is rare autoimmune-mediated rheumatic disorder characterized by recurrent cornea inflammation, fever, weight loss and hearing loss
Jun 10, 2010 | 0 comments | View Post
Holt-Oram Syndrome
Holt-oram syndrome (HOS) is an autosomal inherited disorder characterized by abnormalities of the upper limbs and heart. Holt and Oram first described this condition in 1960.
May 22, 2010 | 0 comments | View Post
Kabuki syndrome
Kabuki syndrome is a rare congenital condition characterized by unusual facial features, skeletal abnormalities, and intellectual impairment due to genetic abnormalities.
May 16, 2010 | 0 comments | View Post
Jackson-Weiss syndrome
Jackson-Weiss syndrome is a rare genetic disorder caused by mutation in the FGFR2 gene on chromosome 10 characterized by foot abnormalities
May 10, 2010 | 0 comments | View Post
Alagille syndrome
Alagille syndrome is a rare genetic disorder caused by mutations of the JAG1 gene on Chromosome 20, characterized by multisystem disorder involving primarily the liver
May 07, 2010 | 0 comments | View Post
Fanconi syndrome
Fanconi syndrome is a disease of the proximal tubular function of the kidney in which certain substances normally absorbed into the bloodstream by
Apr 30, 2010 | 0 comments | View Post
Nephrotic syndrome
A 6 year old boy is brought to the pediatrician by his mother because of a puffy face and lethargy. A few weeks before, he had an upper respiratory tract infection, probably caused by a virus .Body temperature is 36.8 degree centigrade, BP was 95/65 and heart rate was 90 bpm. Puffiness around the eyes, [...]
Jan 19, 2010 | 2 comments | View Post
Fetal Alcohol Syndrome
Adverse neonatal and pediatric effects occur with maternal alcohol consumption during pregnancy. The diagnosis of fetal alcohol syndrome (FAS) is based on findings in the following 3 areas: (1) characteristic facial anomalies, (2) growth retardation (intrauterine growth restriction and failure to have catch-up growth), and (3) CNS involvement (cognitive impairment, learning disabilities, or behavioral abnormalities). [...]
Jan 16, 2010 | 3 comments | View Post
Patent ductus arteriosus (PDA)
Patent ductus arteriosus (PDA) is a persistence of the fetal connection (ductus arteriosus) between the aorta and pulmonary artery after birth, resulting in a left-to-right shunt. Symptoms may include failure to thrive, poor feeding, tachycardia, and tachypnea. A continuous machine-like murmur in the upper left sternal border is common. Diagnosis is by echocardiography. Administration of [...]
Jan 14, 2010 | 2 comments | View Post
Ped Quiz.
[1] A 6 month old infant has large, foul smelling stool and is not gaining weight. Sweat chloride level was 68 mmol/L. Appropriate nutritional recommendation include which of the following and why? change to elemental formula. pancreatic enzyme replacement. high-fat diet. low protein diet. low carbohydrate diet. [2] A 7 month old infant receives chronic [...]
Jan 05, 2010 | 3 comments | View Post
case to be daignosed
A 1 month old male child presented with the history of abdominal distension associated with vomiting and recurrent chest infection and passing clay colored stool several episode per day since 15 days of life.On lab examination total bilirubin was 9.4gm/dl, direct bilirubin 3.2gm/dl and other liver function test revealed normal range. On view of biliary atresia USG was done [...]
Dec 29, 2009 | 5 comments | View Post
Diagnostic Dilemma……………
A 6 years old girl presenting with history of abdominal pain, fever, lethargy and vomiting. On examination she was a very toxic child and had tender hepatomegaly. Her serial CBC shows dropping hemoglobin from 9.5 to 8 gm, dl, also platelets are dropping from 95000 to 85000 to 45000 and finally 35000, cumm. Her SGPT is 56 and 76 [...]
Dec 24, 2009 | 0 comments | View Post
