Neonatal cholestasis with cyanosis

Dr Ira Shah

doi:https://

Neonatal cholestasis with cyanosis

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

ADDRESS FOR CORRESPONDENCE
Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.

Show affiliations

Clinical Problem
A 35 days old boy, third born of non-consanguineous marriage presented with cyanosis and jaundice since day 5 of life. There was no suck-rest-suck cycle, or excessive sweating, acholic stools. There was no antenatal history of fever or drug ingestion in the mother. He was admitted in NICU on day 5 of life for same complaints and was diagnosed to have Ventricular Septal Defect (VSD) with Pulmonary Atresia. On examination, he was malnourished (birth weight = 2.5 kg, present weight = 1.75 kg), had cyanosis, icterus, pinched nose, triangular facies and bilateral undescended testis. Systemic examination revealed hepatomegaly with soft second heart sound and systolic murmur over the apex. Investigations showed:
• Bilirubin = 21 mg/dl (Direct = 16 mg%)
• SGOT = 200 IU/L, SGPT = 415 IU/L.
• Alkaline phosphatase = 196 IU/L
• S. GGTP = 305 IU/L
• Total proteins = 6.8 gm/dl
• S. Albumin = 3.3 gm/dl
• He had prolonged Prothrombin Time & Partial Thromboplastin Time.
• 2D Echo = Large VSD with hypoplastic pulmonary artery and overriding of aorta.

What is the diagnosis?

Discussion
Dr. Ira Shah
This child has congenital cyanotic heart disease with pulmonary atresia, neonatal cholestasis and dysmorphic peculiar facies suggestive of Alagille syndrome. Alagille syndrome is an autosomal dominant disorder with highly variable expression. It is fairly benign in most children. The main clinical features are cholestasis, characteristic facies, butterfly vertebrae, posterior embryotoxon in the eye and cardiac disease including peripheral pulmonary artery stenosis. Liver biopsy shows reduced number of small bile ducts. Treatment consists of management of specific disease and depends on severity of associated disease. Severe cholestasis requires supportive management. Cardiac anomalies may require corrective surgery. Liver transplantation is required in patients with hepatic failure, intolerable pruritis unresponsive to medical treatment and severe growth failure.

Compliance with ethical standards

Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. Neonatal cholestasis with cyanosis. Pediatr Oncall J. 2005;2.

Home

Articles & Issues

About

Contribute

Pediatric Oncall Journal

Neonatal cholestasis with cyanosis

Neonatal cholestasis with cyanosis

Home

Partner Sites

Neonatal cholestasis with cyanosis
Neonatal cholestasis with cyanosis 02/01/2014 02/01/2014 Dr Ira Shah https://www.pediatriconcall.com/Journal/images/journal_cover.jpg Dr Ira Shah. Medical Sciences Department, Pediatric Oncall, Mumbai, India. ADDRESS FOR CORRESPONDENCE Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056. Show affiliations
Clinical Problem A 35 days old boy, third born of non-consanguineous marriage presented with cyanosis and jaundice since day 5 of life. There was no suck-rest-suck cycle, or excessive sweating, acholic stools. There was no antenatal history of fever or drug ingestion in the mother. He was admitted in NICU on day 5 of life for same complaints and was diagnosed to have Ventricular Septal Defect (VSD) with Pulmonary Atresia. On examination, he was malnourished (birth weight = 2.5 kg, present weight = 1.75 kg), had cyanosis, icterus, pinched nose, triangular facies and bilateral undescended testis. Systemic examination revealed hepatomegaly with soft second heart sound and systolic murmur over the apex. Investigations showed: • Bilirubin = 21 mg/dl (Direct = 16 mg%) • SGOT = 200 IU/L, SGPT = 415 IU/L. • Alkaline phosphatase = 196 IU/L • S. GGTP = 305 IU/L • Total proteins = 6.8 gm/dl • S. Albumin = 3.3 gm/dl • He had prolonged Prothrombin Time & Partial Thromboplastin Time. • 2D Echo = Large VSD with hypoplastic pulmonary artery and overriding of aorta.

What is the diagnosis?

Discussion Dr. Ira Shah This child has congenital cyanotic heart disease with pulmonary atresia, neonatal cholestasis and dysmorphic peculiar facies suggestive of Alagille syndrome. Alagille syndrome is an autosomal dominant disorder with highly variable expression. It is fairly benign in most children. The main clinical features are cholestasis, characteristic facies, butterfly vertebrae, posterior embryotoxon in the eye and cardiac disease including peripheral pulmonary artery stenosis. Liver biopsy shows reduced number of small bile ducts. Treatment consists of management of specific disease and depends on severity of associated disease. Severe cholestasis requires supportive management. Cardiac anomalies may require corrective surgery. Liver transplantation is required in patients with hepatic failure, intolerable pruritis unresponsive to medical treatment and severe growth failure.

Compliance with ethical standards
Funding: None
Conflict of Interest: None


Cite this article as: Shah I. Neonatal cholestasis with cyanosis. Pediatr Oncall J. 2005;2.