A Familial Case of Leigh Disease / 대한소아신경학회지

ABSTRACT

In two female siblings, growth and developmental retardation, poor sucking, anorexia, floppiness and respiratory difficulty developed around 2 and 4 monthes of age in each, and the respiratory symptoms rapidly aggravated to comatose states and finally into death one month later. On admission at emergency room, severe acidosis and high lactate and pyruvate levels in serum and cerebrospinal fluid were revealed in one. Brain computed tomography and magnetic resonance imaging revealed identical bilateral involvement of putamen in both of the sibs, which made the diagnosis of Leigh disease(subacute necrotizing encephalomyelopathy) possible. There is also a family history of early death in infancy period; an elder sister and a brother of mother died with unknown cause at their 5 and 10 months of age. Mitochondrial enzyme functions could not be assayed.