Differential Diagnosis for a 2-month-old Male Infant with New-Onset Seizure
Single Most Likely Diagnosis
- Zellweger Spectrum Disorder: This diagnosis is suggested due to the combination of clinical features such as full cheeks, small nose, small chin, protuberant abdomen with hepatomegaly, and thin extremities. The laboratory findings of elevated lactate and uric acid levels, along with low glucose, also support this diagnosis. Zellweger spectrum disorder is a group of rare, autosomal recessive disorders characterized by the reduction or absence of functional peroxisomes in the cells of the body.
Other Likely Diagnoses
- Glycogen Storage Disease Type I: This condition could explain the hepatomegaly, low glucose levels, and elevated lactate and triglycerides. However, the specific facial features and the presence of seizures might not be as directly related to this condition as they are to Zellweger spectrum disorder.
- Mitochondrial Disorders: These disorders can present with a wide range of symptoms including seizures, developmental delays, and metabolic disturbances such as elevated lactate levels. The clinical presentation and laboratory findings could be consistent with a mitochondrial disorder, although the specific facial features might be less typical.
Do Not Miss Diagnoses
- Hypoglycemic Seizure due to Other Causes: Although the glucose level is low, it's crucial to consider other causes of hypoglycemia that could lead to seizures, such as insulinoma, hyperinsulinism, or other metabolic disorders. Missing these diagnoses could be fatal.
- Infections: Severe infections can cause seizures and metabolic disturbances. Although the liver and spleen findings might not directly suggest an infection, it's a diagnosis that cannot be missed due to its potential for rapid progression and severity.
- Congenital Disorders of Glycosylation: These are a group of disorders that can present with seizures, developmental delays, and various systemic findings. They are important to consider because of their potential impact on the child's health and development.
Rare Diagnoses
- Peroxisomal Biogenesis Disorders (other than Zellweger Spectrum): While Zellweger spectrum disorder is considered the most likely diagnosis, other peroxisomal biogenesis disorders could present similarly and should be considered in the differential diagnosis.
- Multiple Carboxylase Deficiency: This is a rare genetic disorder that affects the body's ability to metabolize certain amino acids and other compounds. It could potentially explain some of the metabolic findings but is less likely given the specific combination of clinical features.
- Congenital Disorders of Fatty Acid Oxidation: These disorders can present with hypoglycemia, seizures, and elevated triglycerides but might not fully explain the specific physical features and other laboratory abnormalities seen in this patient.