Differential Diagnosis for a 4-month-old Boy with Suspected Seizures and Developmental Delays
- Single most likely diagnosis:
- Infantile Spasms: This condition is characterized by brief, repetitive seizures, often with developmental delays or regression. The child's poor head control, lack of laughter, and failure to roll are concerning for significant developmental delays, which are common in infantile spasms.
- Other Likely diagnoses:
- Benign Infantile Epilepsy: Although less likely than infantile spasms given the developmental delays, this condition involves seizures in infants and can sometimes present with brief, frequent episodes.
- Developmental Delay with Seizures: This is a broad category where children have significant developmental delays and seizures, which could be due to various underlying causes such as genetic syndromes, metabolic disorders, or structural brain abnormalities.
- Do Not Miss diagnoses:
- Menningitis or Encephalitis: Infections of the brain or meninges can cause seizures and developmental regression. Although less common, these conditions are medical emergencies requiring immediate treatment.
- Metabolic Disorders (e.g., Pyridoxine-dependent Epilepsy): Certain metabolic disorders can cause seizures and developmental delays. These conditions may have specific treatments that can significantly improve outcomes if identified early.
- Hypoxic-Ischemic Encephalopathy: Brain injury due to lack of oxygen can lead to seizures and developmental delays. The history might not always be clear, making this a "do not miss" diagnosis.
- Rare diagnoses:
- Tuberous Sclerosis Complex (TSC): This genetic disorder can cause seizures, developmental delays, and other systemic manifestations. It's less common but should be considered in the differential due to its significant implications for management and prognosis.
- Lennox-Gastaut Syndrome: A rare and severe form of epilepsy that typically becomes apparent during infancy or early childhood, characterized by multiple seizure types and developmental delays.