Subacute necrotizing encephalomyelopathy (Leigh syndrome) in pediatric patients: a retrospective study

Pediatric physical therapy intervention in leigh’s syndrome: a clinical case report

“…subacute necrotizing encephalopathy, is defi ned as a neurodegenerative disease with variable symptoms, caused by genetic and hereditary mitochondrial dysfunction accompanied by bilateral damage in the central nervous system (CNS). 1,3 The syndrome typically aff ects children in the fi rst year of life, with rapid deterioration. In most cases, the child does not present dysmorphic characteristics at birth.…”

“…In most cases, the child does not present dysmorphic characteristics at birth. 1,3 The diagnosis involves the presentation of clinical signs, which may include: hypotonia, delayed psychomotor development, ataxia, spasticity, dystonia, convulsions, abnormal eye movements such as nystagmus, and respiratory impairment. 1,4 In addition, image exams may present damage in the basal ganglia and brainstem, and laboratory alterations with probable lactic acidemia and increased levels of lactate and pyruvate in the blood.…”

“…1,5 Due to early mortality, which is around three years of life, and the low incidence of LS, estimated at 1:40,000 live births, the performance of controlled studies with a large sample becomes infeasible. 1,3,6 It is recognized that the physical therapy minimizes or prevents health complications, aiming at early intervention in the neuromuscular disorders, as well as in the treatment of clinical signs such as hypotonia, spasticity, and delays in motor development. 7 (2 The principles of rehabilitation for most neuromuscular disorders are similar, however, because there is no known progress and little information in the literature, a study that addresses the physiotherapeutic intervention in LS is considered valuable in the assistance of the presented clinical signs.…”