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Clinically Diagnosed Decompensated Chronic Liver Disease With Suspected Portal Hypertension in a One-Year-Old Infant:
Khadar Jama Ibrahim1,2, Abdisamed Mohamoud H Ali1,2, Nouradin Ibrahim Omer1,2
1College of Health Sciences, School of Medicine and Surgery Amoud University Borama Somaliland.
Insights
Diagnosing chronic liver disease in infants in sub-Saharan Africa is challenging. A syndromic diagnosis and basic tests can effectively stabilize infants when advanced hepatologic evaluation is unavailable.
Area of Science:
- Pediatric Hepatology
- Global Health
- Clinical Diagnostics
Background:
- Chronic liver disease in infancy is rare, difficult to diagnose, and underreported in sub-Saharan Africa due to limited access to advanced hepatologic evaluation.
- Infants in low-resource settings often present with complex symptoms requiring timely diagnosis and management.
Purpose of the Study:
- To describe a case of a one-year-old boy with decompensated chronic liver disease in rural Somaliland.
- To evaluate the feasibility of a syndromic diagnosis and stabilization using basic investigations in a resource-limited setting.
- To propose a minimum diagnostic dataset for infants with suspected chronic liver disease in low-resource environments.
Main Methods:
- Case report of a one-year-old boy presenting with abdominal distension, jaundice, hematemesis, and bloody diarrhea.
- Clinical examination, basic laboratory tests (hemoglobin, albumin, bilirubin, coagulation profile), and grayscale ultrasonography.
- Management included blood transfusion, albumin, vitamin K, sodium restriction, and diuretics.
Main Results:
- The patient presented with severe anemia, thrombocytopenia, conjugated hyperbilirubinemia, hypoalbuminemia, and coagulopathy.
- Grayscale ultrasonography revealed an irregular liver surface, splenomegaly, and ascites.
- Initial treatment led to short-term clinical improvement, including reduced abdominal girth and cessation of bleeding.
Conclusions:
- A syndromic diagnosis and effective stabilization are achievable without advanced testing in infants with suspected chronic liver disease in low-resource settings.
- A defined minimum diagnostic dataset including fractionated bilirubin, liver enzymes, coagulation profile, albumin, hepatitis serology, paracentesis, and ultrasonography is recommended.
- This approach supports improved clinical management of pediatric liver disease in resource-limited regions.
Abstract:
Chronic liver disease in infancy is uncommon, diagnostically demanding, and rarely reported from sub-Saharan Africa, where advanced hepatologic evaluation is seldom accessible. We describe a one-year-old boy from rural Somaliland who presented with a two-week history of progressive abdominal distension, followed by jaundice, hematemesis and bloody diarrhea. Examination showed wasting, deep scleral icterus, tense ascites, caput medusae and splenomegaly. Investigations demonstrated severe anemia (hemoglobin 3.8 g/dL), thrombocytopenia (130 × 109/L), conjugated hyperbilirubinemia (total 2.45 mg/dL, direct 1.69 mg/dL), severe hypoalbuminemia (albumin 1.8 g/dL) and marked coagulopathy (INR 3.0). Grayscale ultrasonography showed an irregular hepatic surface, splenomegaly and large-volume ascites. Doppler ultrasonography, upper gastrointestinal endoscopy, liver biopsy, elastography, cytomegalovirus IgM and polymerase chain reaction testing, and metabolic and genetic studies were unavailable, and an isolated positive cytomegalovirus IgG was considered inconclusive. A clinical diagnosis of decompensated chronic liver disease with suspected portal hypertension was therefore made without an established etiology. Whole blood transfusion, intravenous albumin, vitamin K, sodium restriction and combined spironolactone and furosemide produced short-term improvement, with a 4 cm reduction in abdominal girth, a rise in hemoglobin to 8.3 g/dL and cessation of bleeding. This case shows that a defensible syndromic diagnosis and effective stabilization are achievable without advanced testing, and supports adoption of a defined minimum diagnostic dataset-fractionated bilirubin, gamma-glutamyl transferase, coagulation profile, albumin, hepatitis serology, diagnostic paracentesis and grayscale ultrasonography-for infants with suspected chronic liver disease in low-resource settings.
