Grand Rounds

Jaundice with triangular facies and pulmonary stenosis

Ira Shah, Aditi Joshi
Medical Sciences Department, Pediatric Oncall, Mumbai, India.

Clinical Problem:
A 2½ years old girl born of third degree consanguineous marriage presented with progressive abdominal distension for one and a half months along with jaundice at onset. There was no bleeding manifestation or altered sensorium. She was born at full term and there were no perinatal problems. She has an eight month old sister who is asymptomatic. She is immunized for age and has normal milestones. On examination, she had pinched nose with triangular facies. Vital parameters were normal. On systemic examination she had hepatosplenomegaly. Other systems were normal. Ultrasound abdomen showed hepatosplenomegaly. Serum bilirubin was 11.5 mg/dl (direct bilirubin = 5.8 mg/dl), SGOT was 118 IU/L, SGPT = 120 IU/L, total proteins = 5.9 gm/dl, albumin = 3.4 gm/dl, alkaline phosphatase = 553 IU/L. Her hemoglobin was 11.6 gm%, white cell count of 5,900/cumm and platelet count of 2,01,000/cumm. Echocardiography showed left ventricular hypertrophy with mild pulmonary stenosis and liver biopsy showed bile duct paucity. X-Ray spine and ophthalmological examination was normal.

What is the diagnosis?

Previous Grand Rounds View All

Interstitial Pneumonia and Cytomegalovirus Infection in a 2 month old Child
Ira Shah, Drishti Tolani
A 2 month old girl presented with cough and breathlessness. She was ventilated and detected to have bilateral interstitial pneumonia along with hypoglycemia. Her liver function tests were also abnorma....
Lower motor neuron facial palsy in CNS tuberculomas
Ira Shah, Drishti Tolani
An 8 years old boy presented with fever for 19 days with left sided upper limb monoparesis and left lower motor neuron (LMN) facial palsy for 1 day. Cerebrospinal fluid (CSF) showed 25 mg/dl proteins,....
Continued Neurological Damage in HIV Infected Despite Antiretroviral Therapy
Ira Shah, Drishti Tolani
A 13 years old HIV infected boy on ART since 6 years of age presented with progressive increase of involuntary movements of left side of body with increased tone in Sept 2011. He was diagnosed to have....
Granulomas in Chronic Granulomatous Disease
Ira Shah, Anmol Goyal
A 3 years old boy suffering from chronic granulomatous disease (CGD) presented with fever and cough. He was detected to have CGD at the age of 1 year 4 months in view of persistent pneumonia and a pos....
Acute Liver Failure due to acetaminophen toxicity - How to treat?
Ira Shah, Parth Gada
A 21 months old boy presented with fever, cough, cold for 4 days, drowsiness for 2 days and one episode of convulsion. He had been treated with oral paracetamol for the initial 2 days of fever every 4....
Disclaimer: The information given by is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.