Presenter: Tyler Reimschisel, MD Preceptor: Harvey Singer, MD


October 07, 2002

Differential Diagnosis of Myoclonic Seizures in Infancy

Below is a list of the most common causes of myoclonic seizures in infancy:

Structural brain abnormalities (dysplasias)

Perinatal hypoxic-ischemic injury

Congenital infections


  • Phenylketonuria (PKU)

  • Argininosuccinic aciduria

  • Biopterin deficiency

  • Nonketotic hyperglycinemia

Organic acidopathy

  • Biotinidase deficiency

Mitochondrial cytopathy

  • Leigh disease

  • Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

Pyridoxine deficiency

Lysosomal disorders

  • Gaucher's disease

  • Tay-Sachs disease

  • Sandhoff's disease

  • GM1 gangliosidosis

  • Niemann-Pick disease

  • Sialidosis

Alper's syndrome

Menkes disease

Infantile neuronal ceroid lipofuscinosis

Wilson's disease

Huntington's disease

What do you think is the most likely diagnosis for the patient in Case 2?


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