Differential Diagnosis for 8-month-old with Moments of Upward Gazing and Wringing Motion of Wrists

• Single Most Likely Diagnosis
  • Infantile Spasms: This condition is characterized by brief, but often repetitive, episodes of flexion, extension, or mixed extension-flexion movements, which could include upward gazing and wringing motions of the wrists. It typically presents in the first year of life, making it a strong candidate given the age and symptoms described.
• Other Likely Diagnoses
  • Benign Infantile Epilepsy: This includes several epilepsy syndromes that present in infancy, such as benign familial infantile epilepsy, which can manifest with various seizure types, including those that might resemble the described behaviors.
  • Sandifer Syndrome: Although more commonly associated with gastroesophageal reflux, it can cause infants to exhibit unusual posturing, including arching of the back and twisting movements, which might be mistaken for seizures or other neurological conditions.
• Do Not Miss Diagnoses
  • Metabolic Disorders: Conditions like pyridoxine-dependent epilepsy or other metabolic disorders can present with seizures or abnormal movements and are critical to diagnose early due to the potential for significant morbidity or mortality if left untreated.
  • Intracranial Hemorrhage or Structural Abnormalities: Although less common, any acute intracranial event or previously undiagnosed structural brain abnormality could potentially cause sudden onset of abnormal movements, including those described.
• Rare Diagnoses
  • Moyamoya Disease: A rare condition causing narrowing or blockage of the internal carotid artery and its branches, leading to reduced blood flow to the brain. It can present with seizures, among other symptoms, but is exceedingly rare in infants.
  • Alternating Hemiplegia of Childhood: A very rare disorder that starts in early childhood, characterized by episodes of temporary paralysis on one side of the body, which can be accompanied by other abnormal movements.