Return to Case List with Diagnoses or Case List as Unknowns

HEPATOBILIARY SCINTIGRAPHY OF ALAGILLE SYNDROME
Authored By: kwinkl01 and Bennett Greenspan.
Patient: 1 month 3 day old male
History: One month old boy with jaundice and hyperbilirubinemia.
Image Size:[small][as-submitted]

Fig. 1
Hepatobiliary Scintigraphy

Fig. 2
Hepatobiliary Scintigraphy

Fig. 3
Sonography

Fig. 4
Sonography
Image Size:[small][as-submitted]

Findings:

 HEPATOBILIARY SCINTIGRAPHY:

RADIOPHARMACEUTICAL:

0.66 mCi Tc-99m mebrofenin i.v.

 

FINDINGS:

Following intravenous administration of Tc-99m mebrofenin, sequential abdominal images were obtained through 60 minutes. There is prompt, uniform accumulation of the tracer by the liver. There is no filling of the intrahepatic ducts, common bile duct or gallbladder up to 60 minutes or at 24 hours postinjection. No activity is seen within the bowel at 24 hours post injection.

 

SONOGRAPHY:

There is a normal appearing liver. The gallbladder is small but normal in appearance. The common duct measures less than one mm in diameter, which is within normal limits.

Diagnosis: Chronic cholestasis in the setting of probable Alagille Syndrome.
General Discussion:

HISTORY:

One month old boy with jaundice and hyperbilirubinemia.

 

DISCUSSION:

Alagille syndrome is an autosomal dominant disorder with abnormalities of the liver, heart, skeleton, eye, kidneys, and characteristic facial appearance.  Alagille et al described several patients with these features and there was an association with hypoplasia of the hepatic ducts.  Incidence in the United States is approximately 1 in every 100,000 live births. There is no difference in penetrance with regard to gender.  Most children are evaluated prior to 6 months for either neonatal jaundice or cardiac murmurs.  Morbidity arises from bile duct paucity or cholestatic liver disease, underlying cardiac disease, and renal disease.

 

Hepatic disease is a key feature of Alagille syndrome, with most infants presenting with cholestatic jaundice.  Liver biopsy often reveals a paucity of intrahepatic bile ducts, which was noticed in this patient.  Most patients will have cardiac murmurs.  Skeletal abnormalities involve the vertebrae, ribs, and hands.  Commonly associated facial features include broadened forehead, pointed chin, and elongated nose with bulbous tip.  Children frequently have diminished linear growth and may have mild developmental delay, some of which may be associated with vitamin deficiencies.  Renal presentation may include renal artery stenosis, lipoid nephrosis, or glomerulosclerosis may present with signs and symptoms of chronic hypertension.

 

Treatment includes management of nutritional deficiencies, standard immunizations, as well as close cardiology follow-up.  Symptomatic control of pruritus may be achieved with anti-histamines.  Liver transplantation may be considered with progressive hepatic dysfunction, severe portal hypertension, failure to thrive, as well as intractable pruritus and osteodystrophy.

References: http://www.emedicine.com/ped/topic60.htm - Alagille syndrome. Ann Scheimann, MD.
Comments:
No comments posted.
Additional Details:

Case Number: 313689Owner(s): kwinkl01 and Bennett GreenspanLast Updated: 02-07-2013
Anatomy: Gastrointestinal (GI)   Pathology: Congenital
Modality: Nuc Med, USAccess Level: Readable by all users, writable by NucMed Certifiers
Keywords: hsnm

Case has been viewed 19 times.
Certified by Bennett Greenspan on 08-26-2011

The reader is fully responsible for confirming the accuracy of this content.
Text and images may be copyrighted by the case author or institution.