Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Orpha code: 314051OMIM code: 614924

Definition

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.

Disease data
Classification

Disease

Synonyms
COXPD12
LTBL
COXPD12
Złożony defekt fosforylacji oksydacyjnej typu 12
Combined oxidative phosphorylation defect type 12
LTBL
ORPHA code
314051
OMIM code
614924
ICD10 code
E88.8
ICD11 code
-

No additional description.

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