A DNA Polymerase Subunit Gamma (POLG) Mutation Imposing a Difficult Differential Diagnosis of Hepatic Encephalopathy
Ithamar Cheyne1, Bartosz Boryszewski1, Wyven Chang1
1Anesthesiology and Critical Care Scientific Circle English Division (ANKONA ED), Medical University of Warsaw, Warsaw, POL.
Abstract:
Hepatic encephalopathy (HE) is a condition connected with neuropsychiatric alteration during hepatic failure. The differential diagnosis of HE is challenging due to overlapping symptoms with other conditions. Polymerase subunit gamma (POLG) is a mitochondrial gene, and an infant POLG mutation can manifest with severe and progressive hepatic failure and encephalopathy, imposing a difficult differential diagnosis due to similarities to other conditions. The lack of curative treatment leads to a poor prognosis. An 11-month-old boy was admitted to the intensive care unit (ICU) due to altered consciousness and increasing edema due to acute hepatic failure of unknown etiology. After extensive multidisciplinary discussions and a lack of response to treatment for more than three weeks, a mitochondrial disease was suspected, and a genetic test was taken. The patient's condition continued to deteriorate. The patient died on the 25th day of hospitalization in the ICU. After death, a genetic test confirmed a rare POLG mutation NM_002693.3(POLG):c.3104+2T>A (Variation ID: 422378 Accession: VCV000422378.8). We suggest that a screen test for POLG mutations be considered early in the diagnostic process and that clinicians consider mitochondrial genetic mutations, such as POLG mutations, more often. This article is the first to describe a patient with this specific mutation.
Insights
Early genetic testing for Polymerase gamma (POLG) mutations is crucial for infants with unexplained hepatic failure and encephalopathy. This rare POLG mutation presents diagnostic challenges, highlighting the need for increased clinical consideration of mitochondrial diseases.
Area of Science:
- Genetics
- Hepatology
- Neurology
Background:
- Hepatic encephalopathy (HE) involves neuropsychiatric changes during liver failure, often with diagnostic challenges due to symptom overlap.
- Infant mutations in the mitochondrial Polymerase gamma (POLG) gene can cause severe hepatic failure and encephalopathy, mimicking other conditions.
- Limited curative treatments for HE and POLG mutations result in poor prognoses.
Observation:
- An 11-month-old boy experienced acute liver failure and encephalopathy of unknown cause.
- Despite intensive care and treatment for over three weeks, the patient's condition worsened, leading to death.
- Post-mortem genetic testing revealed a rare POLG mutation (NM_002693.3:c.3104+2T>A).
Findings:
- The infant's severe hepatic failure and encephalopathy were attributed to a specific, rare POLG mutation.
- This case highlights the critical role of genetic testing in diagnosing unexplained pediatric liver failure.
Implications:
- Genetic screening for POLG mutations should be considered early in the diagnostic workup for infants with acute liver failure and encephalopathy.
- Increased awareness among clinicians regarding mitochondrial genetic mutations like POLG is crucial for timely diagnosis and management.
- This case represents the first documented instance of this specific POLG mutation presenting with severe infantile hepatic failure and encephalopathy.
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