Leigh syndrome – French Canadian type
Overview
A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
Symptoms
* Developmental delay * Cross eyed * Episodes of lactic acidosis * Loss of previously acquired motor skills * Loss of appetite * Vomiting * Irritability * Seizures * Weakness * Progressive loss of muscle tone * Spasms * Reduced reflexes * Myoclonic spasms * Absence of reflexes * Increased number of white blood cells in blood * Metabolic acidosis * Cytochome c oxidase deficiency * Increased blood lactate * Increased blood pyruvate * Increased blood alanine * Low body weight * Growth retardation * Progressive neurological deterioration * Mental retardation * Poor infant sucking ability * Loss of infant head control * Loss of infant motor skills * Loss of infant appetite * Continuous infant crying * Infant irritability * Respiratory function impairment * Impaired kidney function
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Leigh syndrome, French Canadian type. This medical information about signs and symptoms for Leigh syndrome, French Canadian type has been gathered from various sources, may not be fully accurate, and may not be the full list of Leigh syndrome, French Canadian type signs or Leigh syndrome, French Canadian type symptoms. Furthermore, signs and symptoms of Leigh syndrome, French Canadian type may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Leigh syndrome, French Canadian type symptoms.