Differential Diagnosis for Infantile Spasms
Single Most Likely Diagnosis
- West Syndrome: This is the most common cause of infantile spasms, characterized by a triad of infantile spasms, hypsarrhythmia on EEG, and developmental regression. It is often associated with underlying neurological disorders or brain injuries.
Other Likely Diagnoses
- Tuberous Sclerosis Complex (TSC): A genetic disorder that can cause infantile spasms, often associated with other symptoms like skin lesions, renal angiomyolipomas, and cardiac rhabdomyomas.
- Pyridoxine-Dependent Epilepsy: A rare form of epilepsy that responds to pyridoxine supplementation, often presenting with infantile spasms.
- Inborn Errors of Metabolism: Certain metabolic disorders, such as phenylketonuria or maple syrup urine disease, can cause infantile spasms due to accumulation of toxic metabolites.
Do Not Miss Diagnoses
- Intracranial Hemorrhage or Stroke: These conditions can cause sudden onset of infantile spasms and require immediate medical attention to prevent further brain damage.
- Meningitis or Encephalitis: Infections of the central nervous system can present with infantile spasms, and prompt diagnosis and treatment are crucial to prevent long-term sequelae.
- Hyponatremia or Other Electrolyte Imbalances: Severe electrolyte imbalances can cause seizures, including infantile spasms, and require urgent correction.
Rare Diagnoses
- Aicardi Syndrome: A rare genetic disorder characterized by infantile spasms, agenesis of the corpus callosum, and other brain malformations.
- Peroxisomal Biogenesis Disorders: A group of rare genetic disorders affecting peroxisome function, which can cause infantile spasms among other symptoms.
- Mitochondrial Disorders: Certain mitochondrial disorders, such as Kearns-Sayre syndrome, can present with infantile spasms due to impaired energy production in the brain.