/leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Rare Disease

MONDO:0013971

Also Known As

COXPD12EARS2 combined oxidative phosphorylation deficiencyLTBLcombined oxidative phosphorylation defect type 12combined oxidative phosphorylation deficiency caused by mutation in EARS2combined oxidative phosphorylation deficiency type 12leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndromecombined oxidative phosphorylation deficiency 12leukoencephalopathy with thalamus and brainstem involvement and high lactate

Definition

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.