A Rare Case of Suprahepatic Gall Bladder with Phocomelia and Pancytopenia: Detected by Tc-99m Mebrofenin Scintigraphy
A 25-year-old female presented to the Department of Nuclear Medicine for hepatobiliary scintigraphy with complaints of recurrent epigastric pain, abdominal distention, and recurrent episodes of jaundice in the past and with the suspicion of a functional gallbladder pathology. The patient gave history of bleeding gums, skin rashes, menorrhagia, and epistaxis of 1 year duration. She was being treated as a case of pancytopenia with hypersplenism. The patient was born out of a non-consanguineous marriage, normal delivery, and was second in birth order. Developmental history did not reveal any delay in achieving milestones except for an absent right hand below elbow since birth. There was no family history suggestive of any congenital disorders like absent limbs, bleeding disorders, etc., On physical examination, there was no jaundice, pallor, loss of hair, or any muscle wasting. There were multiple purple spots which did not fade on pressure on both upper limbs. The right hand was absent below elbow. Abdominal examination revealed splenomegaly with the spleen palpable to 6 cm below the costal margin. Laboratory investigations showed decreased hemoglobin (7.3 gm/dl), Total Leukocyte Count (3.01 × 103/uL), platelets (23 × 103/uL), and mean cell volume (67). Kidney function tests were normal. Liver function tests showed elevated serum bilirubin (1.50 mg/dl), alanine aminotransferase (123 IU/l), and normal alkaline phosphatase (300 U/l). Serum amylase was normal. Hepatitis profile (Hepatits B surface Antigen, Hepatits B core Antigen, HepatitsC virus) was negative. Upper gastrointestinal endoscopy showed two small chronic pyloric ulcers. An USG abdomen done 2 years back had revealed contracted gallbladder with splenomegaly and left ovarian cyst; a repeat abdominal USG done 2 months prior to the hepatobiliary scan could not locate the gallbladder in its normal anatomical location.\nA 90-min dynamic Tc-99m Mebrofenin hepatobiliary study was performed using an intravenous dose of 7 mCi (259 MBq) Tc-99m Mebrofenin. The patient was placed in a supine position under a large field-of-view dual-head gamma camera using low-energy all-purpose parallel-hole collimator and 20% energy window centered at 140 keV. Ninety dynamic frames of 1 min duration each for the dynamic study (matrix size 128 × 128) followed by two static frames of 3 min duration each at 90 min and 3 h (matrix size 256 × 256) were acquired using a single detector (anterior).\nThe scan showed an intense focus of tracer uptake in relation to the upper border of the right lobe of the liver [], which became visible within 15 min of Tc-99m Mebrofenin injection. At 15 min post injection, the patient was given standard fatty meal (half and half milk 8 oz/70 kg) orally. The intensity of the focal uptake decreased gradually, and by the completion of 90 min, uptake in the suprahepatic region had markedly decreased. The liver showed uniform tracer uptake with small-sized right lobe. Liver to bowel transit time was normal (45 min). Gallbladder emptying (ejection fraction) was also calculated. Emptying was 90% at 90 min and 100% at 3 h. A diagnosis of an ectopic (suprahepatic) gallbladder with normal ejection fraction, and right hepatic lobe hypoplasia was made. A Tc99-m sulfur colloid SPECT transverse section showed gallbladder in suprahepatic location []. A subsequent MRCP [Figures and ] confirmed the scintigraphic diagnosis of suprahepatic gallbladder. On MRCP, the axial HASTE [] and coronal TRUFI [] images demonstrated a suprahepatic gallbladder located superior to segment VIII, hypoplasia of the right hepatic lobe with compensatory hypertrophy of the left hepatic lobe, and gross splenomegaly. A 3.5 M Hz routine abdominal USG was done which revealed an ectopic gallbladder (right subphrenic) with small right hepatic lobe and hypertrophied left hepatic lobe [], which was previously reported as normal [].