Differential Diagnosis for a 4-month-old Boy with Suspected Seizures and Developmental Delay

• Single Most Likely Diagnosis
  • Infantile Spasms (West Syndrome): Characterized by clusters of myoclonic seizures, hypsarrhythmia on electroencephalography (EEG), and developmental delay. The child's presentation of "mini seizures," poor head control, and lack of developmental milestones such as laughing or attempting to roll are consistent with this diagnosis.
• Other Likely Diagnoses
  • Cerebral Palsy: Presents with diffuse extremity muscle spasticity, developmental delay, and potentially cortical blindness, depending on the extent of brain injury.
  • Krabbe Disease: A lysosomal storage disorder that can cause severe developmental delay, hypotonia, and may have abnormal signals in the brain on MRI, including the globus pallidus.
• Do Not Miss Diagnoses
  • Metabolic Disorders (e.g., Maple Syrup Urine Disease, Phenylketonuria): These conditions can present with developmental delay, seizures, and specific findings such as a characteristic odor in the case of Maple Syrup Urine Disease. Early diagnosis is crucial for treatment and prevention of further brain damage.
  • Congenital Infections (e.g., Congenital Rubella, CMV): Can cause a range of symptoms including developmental delay, seizures, and specific physical findings like a cherry red macula in some cases.
• Rare Diagnoses
  • Tay-Sachs Disease: Characterized by the inability to swallow (dysphagia) in later stages, diffuse muscle atrophy, and a cherry red macula on funduscopy. It's a lysosomal storage disorder leading to severe neurological deterioration.
  • Leigh Syndrome: A mitochondrial disorder that can cause developmental delay, seizures, and specific findings on MRI, including abnormalities in the basal ganglia. It's a rare but important consideration due to its poor prognosis and the need for specific management strategies.