7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options
# 7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options ## [7-Month-Old] Identified with Abernethy Malformation (Congenital Portosystemic Shunt) - Treatment Methods? **Age:** 7 months **Gender:** Female **Height:** Age-appropriate **Weight:** Currently 9 kg, was 2.8 kg at birth **Ethnicity:** Asian **Duration of Symptoms:** Present since birth **Location:** Uzbekistan **Pre-existing Health Issues:** Abernethy malformation (congenital portosystemic shunt), liver hemangiomas, chronic jaundice, anemia **Current Treatments:** Supportive management --- ## INITIAL PRESENTATION (June 2025 - July 2025) Our daughter arrived on **June 27, 2025**, presenting with: - Birth weight: **2.8 kg** - Marked jaundice (yellowing of skin and sclera) - Pale or clay-colored stools - **Bilirubin level: 245 μmol/L** (typically <20) An immediate ultrasound indicated multiple liver anomalies, initially thought to be hemangiomas. --- ## FIRST COMPREHENSIVE ASSESSMENT (August 1, 2025 - 1 Month Old) ### Multislice Computed Tomography (MSCT) with 3-Phase Contrast (August 1, 2025): **RESULTS:** - **Portocaval shunt size: 9.9 mm** (blood bypassing the liver into the inferior vena cava) - **Arteriovenous shunt size: 4.4 mm** - **Portal vein size: 6.1 mm** (patent) - **Three nodular cystic lesions** located in the perivascular area, with largest measuring 11.6×20.7 mm, enhancing during the venous phase - Liver features a heterogeneous architecture, exhibiting irregular enhancement - Gallbladder appears elongated and slightly enlarged - Other abdominal organs exhibit normal findings **RADIOLOGIST’S ASSESSMENT:** "Congenital portosystemic shunt indicative of Abernethy malformation; less likely arteriovenous malformation (AVM); cannot dismiss the possibility of localized liver lesions." **ADVICE:** Seek consultations with an abdominal and vascular surgeon. ### Blood Tests (August 1, 2025): **Complete Blood Count:** - WBC: 10.44 × 10⁹/L (normal range) - **RBC: 2.1 × 10¹²/L** (LOW - indicating severe anemia) - **Hemoglobin: 69 g/L** (CRITICALLY LOW; normal is 117-166) - Platelets: 403 × 10⁹/L (elevated) **Biochemistry Analysis:** - Urea: 1.80 mmol/L (normal) - Creatinine: 33.4 μmol/L (normal) - **ALT: >1000 IU/mL** (EXTREMELY HIGH - severe liver dysfunction) --- ## FOLLOW-UP IMAGING (December 16, 2025 - 5.5 Months Old) ### Liver Ultrasound: **RESULTS:** - Right lobe: 64 mm, left lobe: 43 mm - Liver capsule appears irregular and vague - **Parenchyma: heterogeneous, showing 7 hypo-isoechoic nodules** (sizes range from 11.5×10.7 mm to 17.6×15.4 mm) - Capsule features uneven contours - Blood flow noted during Doppler examination - No dilation in intrahepatic bile ducts - **Portal vein: 3.9 mm** (decreased from 6.1 mm - indicating improvement) - Common bile duct: 1.4 mm - Gallbladder: measures 43.7×9.2 mm (pear-shaped, wall thickness 2.0 mm, homogeneous, free of stones) **ULTRASOUND ASSESSMENT:** "Presence of liver volumetric formations (specifically liver hemangiomas)." --- ## LATEST MSCT (February 6, 2026 - 7 Months Old) ### MSCT with 3-Phase Contrast: **FINDINGS:** - Liver remains normal in size, but shows heterogeneous structure with uneven contrast enhancement - **Portocaval shunt: 9.9 mm** (no change, continues to drain directly into the inferior vena cava avoiding liver acinus) - **Arteriovenous shunt: 4.4 mm** (no alteration) - **Three nodular cystic lesions** in perivascular space, maximum size 11.6×20.7 mm, enhancing in the venous phase - **Portal vein: 6.1 mm** (noted during porto-venous phase) - Arteries show no filling abnormalities - Intrahepatic bile ducts remain non-dilated - Gallbladder is elongated and slightly bigger, free from stones - Pancreas: normal - Spleen: measures 66.9×38.5 mm (not enlarged), splenic vein is 3.6 mm - Kidneys: normal placements and structure - No excess fluid detected in the abdominal cavity - No visible changes in lymph nodes **MSCT ANALYSIS:** "Congenital portosystemic shunt indicative of Abernethy malformation, unlikely to be AVM, presence of focal liver lesions cannot be ruled out." **RECOMMENDATION:** Engage with an abdominal and vascular surgeon. --- ## RECENT BLOOD WORK (December 2025 - January 2026) ### Complete Blood Count (January 19, 2026): - WBC: 5.8 × 10⁹/L (SHOWS IMPROVEMENT) - **RBC: 2.93 × 10¹²/L** (IMPROVED but still low) - **Hemoglobin: 72 g/L** (SHOWS IMPROVEMENT but still low) - Platelets: 223 × 10⁹/L (BACK TO NORMAL) - Neutrophils: 30.0% - Lymphocytes: 64.8% - Monocytes: 4.6% ### Biochemistry (January 28, 2026): - Total protein level: 67 g/L (slightly deficient) - Creatinine: 20.7 μmol/L - **Total Bilirubin: 242 μmol/L** (STILL HIGH - unchanged) - **Direct Bilirubin: 142 μmol/L** (VERY HIGH) - **ALT: 50 IU/mL** (DRASTICALLY LOWER from >1000!) --- ## OVERVIEW OF PROGRESS OVER 6 MONTHS | Parameter | August 2025 | January 2026 | Change | |------------------|-------------|---------------|--------------------------| | **Hemoglobin** | 69 g/L | 72 g/L | ↗ Slight improvement | | **RBC** | 2.1 | 2.93 | ↗ Improved | | **ALT** | >1000 | 50 | ✓✓ MAJOR IMPROVEMENT | | **Bilirubin** | 245 | 242 | → Unchanged (still elevated) | | **Portal vein** | 6.1 mm | 3.9 mm (US) | ↗ Decreased | | **Platelets** | 403 | 223 | ↘ Normalized | | **Shunt size** | 9.9 mm | 9.9 mm | → No Change | --- ## CURRENT SITUATION (February 2026 - 7 Months Old) - **Weight:** 9 kg (good growth rate in spite of condition) - **Jaundice:** Continues to be present (yellow skin) - **Stools:** Remain pale/clay-colored - **Development:** Achieving appropriate milestones - **Energy:** Appears to have a good energy level - **Feeding:** Normal appetite --- ## QUESTIONS FOR r/AskDocs We have been informed this is **Type 2 Abernethy malformation** (portal vein present). **Three treatment avenues have been proposed:** ### Option 1: **Endovascular Coil Embolization** (minimally invasive approach) - A catheter is inserted via the leg vein to access the shunt and deploy coils/plugs to close the abnormal vessels - Pros: No surgical incision, minimal discomfort, short hospital stay (2-4 days), no scars, enhanced safety - Duration: 1-2 hours - Recovery: 2-4 weeks for jaundice to show improvement ### Option 2: **Open Surgical Intervention** - An incision in the abdomen to ligate abnormal vessels and redirect blood to the liver - Pros: Direct visualization, effective results - Cons: Surgical scar, longer recovery time (7-14 days in hospital) - Duration: 2-4 hours ### Option 3: **Liver Transplantation** - We have been advised this is not necessary as the portal vein is functional and liver health is improving. --- ## SPECIFIC QUESTIONS TO CONSIDER: 1. **With a functional portal vein (6.1 mm) and improving liver function (ALT normalized), is it advisable to pursue endovascular closure as the preferred treatment?** 2. **Despite ALT levels improving, the bilirubin remains consistently high (242). Should this be a cause for concern? Is there a prospect for it to normalize post shunt closure?** 3. **Are the hemangiomas/nodules (11.6×20.7 mm) linked to the shunt? Will they likely resolve following shunt repair?** 4. **How urgent is the proposed intervention? Is immediate action required, or is there flexibility to wait a few months?** 5. **What complications should we be vigilant for during the waiting period?** 6. **Regarding endovascular closure - what is the average success rate for infants aged 7 months? Are there concerns regarding the shunt size (9.9 mm)?** 7. **The measurement of the portal vein has shown improvement from 6.1 mm to 3.9 mm; should this be perceived as a positive sign or a reason for concern?** 8. **Are there special directives (diet modifications, medications) we should consider while awaiting the procedure?** 9. **Post-procedure, how long should we expect it might take for:** - Normalization of bilirubin levels? - Return of stool color to normal? - Resolution of jaundice? - Regression of hemangiomas? 10. **Can you recommend any specialized centers for pediatric Abernethy malformation treatments? We are located in Uzbekistan but are prepared to travel (to Turkey, Russia, South Korea, etc.)** --- ## ADDITIONAL INFORMATION - No family history of hepatic diseases - Pregnancy and delivery were normal - No additional congenital defects identified - Immunizations up to date - No history of bleeding disorders - No signs indicative of encephalopathy - Child is alert and engaged --- **I can supply actual MSCT images and comprehensive lab reports if they would be of assistance.** We sincerely appreciate any insights you can provide. We are striving to make the most informed decision regarding our daughter’s care and highly value expert medical opinions. **TL;DR:** 7-month-old diagnosed with Abernethy Type 2 malformation (9.9 mm portocaval shunt, patent portal vein). Liver functionality is improving (normalized ALT) while bilirubin remains elevated (242). Evaluating options between endovascular coil embolization and open surgery. Seeking expert advice on optimal treatment strategy and timing.
Answers (1)
2/7/2026, 10:01:15 AM
OpenHealth AI
Thank you for sharing the detailed information about your daughter’s condition. It sounds very concerning, especially given the complexities involved with Abernethy malformation and its impact on her liver function. I appreciate your commitment to finding the best course of action for her. Let’s address your concerns step by step.
Summary of the Main Points:
- Your daughter's bilirubin levels are persistently high despite improved liver function (normalized ALT).
- You are evaluating treatment options between endovascular coil embolization and open surgery.
- There are specific questions regarding the urgency of treatment, potential complications, and post-procedure expectations.
Explanation:
- Abernethy Malformation Type 2 presents a congenital portosystemic shunt while maintaining a functional portal vein. This condition can lead to insufficient blood flow to the liver and may cause liver function issues, which you are already observing.
- Elevated bilirubin can indicate that while some liver function has improved, the underlying blood flow issue may still impact bilirubin processing.
- Hemangiomas are benign tumors of the liver, which may or may not resolve post-treatment of the shunt. Their relationship with the shunt needs further assessment.
Next Steps:
-
Consultation on Treatment Options:
- Given the improvement in liver function but persistent high bilirubin levels, endovascular coil embolization could be a less invasive approach you might consider first. This is especially relevant since ALT levels are normalized, indicating some recovery of liver function.
- If the endovascular approach is successful, it may help reduce bilirubin levels more effectively without the risks associated with more invasive surgeries.
-
Monitoring Bilirubin Levels:
- Continue to monitor bilirubin closely. If levels rise significantly or if other symptoms of liver dysfunction appear, immediate action would be warranted.
-
Understanding Urgency and Complications:
- While you might have some flexibility in timing, don’t delay seeking treatment as improved liver function is still not fully guaranteed if the shunt remains open. Keep regular follow-ups with your healthcare provider.
- Watch for symptoms such as worsening jaundice, abdominal swelling or pain, or changes in consciousness, which could indicate complications.
-
Dietary and Supportive Care:
- Ensure your daughter’s diet is rich in fruits, vegetables, and whole grains while being low in processed foods. Hydration is essential, so encourage fluid intake.
- Any medications or supplements should be discussed with your healthcare provider.
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Post Procedure Expectations:
- Normalization of bilirubin levels can take weeks to months post-shunt closure; stool color may return to normal within a few weeks, but jaundice may take longer depending on how well the liver compensates.
- Regression of hemangiomas is variable and should be monitored over time.
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Pediatric Specialized Care:
- Research specialized pediatric hepatology or surgical centers, particularly in countries known for advanced procedures. Some centers in Turkey, South Korea, or Russia have robust pediatric care departments with expertise in congenital liver disorders.
Final Note:
Always keep an open line of communication with your daughter’s healthcare team to address any new symptoms or changes in condition as they arise. Your careful attention and proactive approach are vital in managing her health. If you collect more information and imagery, it can further help in refining your treatment pathway.
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