Differential Diagnosis for Hypotonia and Elevated ALAT in an Infant
Single Most Likely Diagnosis
- Viral Hepatitis: This is a common cause of elevated liver enzymes (ALAT) in infants and can also present with hypotonia due to the systemic effects of the infection.
Other Likely Diagnoses
- Metabolic Disorders (e.g., Glycogen Storage Diseases, Mitochondrial Disorders): These conditions can lead to both hypotonia and liver enzyme elevations due to the accumulation of toxic substances or the failure of energy production.
- Congenital Infections (e.g., Toxoplasmosis, Rubella, Cytomegalovirus): Besides viral hepatitis, other congenital infections can cause a range of symptoms including hypotonia and elevated liver enzymes.
- Neonatal Cholestasis: Conditions like biliary atresia or neonatal hepatitis can cause elevated liver enzymes and may be associated with hypotonia due to the underlying illness or associated metabolic disturbances.
Do Not Miss Diagnoses
- Wilson's Disease: Although rare in infants, Wilson's disease can present with liver dysfunction and neurological symptoms including hypotonia. Early diagnosis is crucial for treatment.
- Reye's Syndrome: A rare but serious condition that causes swelling in the liver and brain, often associated with the use of aspirin during viral infections. It can present with hypotonia and elevated liver enzymes.
- Acute Liver Failure: Any cause of acute liver failure (e.g., ischemia, toxins, infections) can lead to hypotonia among other symptoms due to the critical role of the liver in metabolism and detoxification.
Rare Diagnoses
- Zellweger Spectrum Disorders: A group of rare, genetic disorders characterized by the reduction or absence of functional peroxisomes in the cells of the body, leading to hypotonia and liver disease among other symptoms.
- Gaucher's Disease: A genetic disorder where a deficiency of the enzyme glucocerebrosidase leads to an accumulation of harmful substances within cells, potentially causing liver enlargement and elevated liver enzymes, along with hypotonia.
- Niemann-Pick Disease: A group of genetic disorders primarily affecting lipid metabolism, which can lead to liver and spleen enlargement, and neurological symptoms including hypotonia.