Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Alternate names[edit | edit source]
Combined oxidative phosphorylation defect type 12; Combined oxidative phosphorylation deficiency 12; COXPD12; LTBL; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Definition[edit | edit source]
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a rare disorder that affects the brain. It is part of a group of disorders known as leukodystrophies.
Summary[edit | edit source]
- Leukodystrophies are diseases that affect the white matter of the brain.
- The white matter contains nerve fibers (axons), surrounded by a type of sheath or covering called myelin (a fatty, white colored substance) that allows the transmission of impulses or communication among brain cells (neurons).
Cause[edit | edit source]
- LTBL is caused by changes (mutations) in the EARS2 gene.
- Mutations in this gene decrease the amount of a specific mitochondrial enzyme needed for proper mitochondrial function (mitochondria are cell structures that convert the energy from food into a form that cells can use), and therefore, LTBL is also considered a type of mitochondrial disorder.
Inheritance[edit | edit source]
It is inherited in an autosomal recessive pattern.
Forms[edit | edit source]
There are basically two forms of the disease based on severity of symptoms and age of onset: A mild disease, with onset around 6 months of age, characterized by the loss of acquired skills (psychomotor regression), muscle stiffness (spasticity), irritability and seizures. These symptoms often improve during the toddler years.
A severe disease with symptoms that start in newborns and include brain and liver problems.
- Symptoms generally do not improve with age.
- The severity of the condition varies.
- Mildly affected individuals usually develop signs and symptoms after the age of 6 months.
- Loss of mental and movement abilities (psychomotor regression), muscle stiffness (spasticity), and extreme irritability are common, and some people with mild LTBL develop seizures.
- However, after age 2, the signs and symptoms of the condition improve: affected children regain some psychomotor abilities, seizures are reduced or disappear, MRI results become more normal, and lactate levels drop.
Signs and symptoms[edit | edit source]
- The severity of the condition varies.
- Mildly affected individuals usually develop signs and symptoms after the age of 6 months.
- Loss of mental and movement abilities (psychomotor regression), muscle stiffness (spasticity), and extreme irritability are common, and some people with mild LTBL develop seizures.
- However, after age 2, the signs and symptoms of the condition improve: affected children regain some psychomotor abilities, seizures are reduced or disappear, MRI results become more normal, and lactate levels drop.
- Severely affected individuals have features that begin soon after birth.
- These infants typically have delayed development of mental and movement abilities (psychomotor delay), weak muscle tone (hypotonia), involuntary muscle tensing (dystonia), muscle spasticity, and seizures.
- Some have extremely high levels of lactate (lactic acidosis), which can cause serious breathing problems and an abnormal heartbeat.
- Liver failure occurs in some severely affected infants.
- In severe cases, the signs and symptoms do not improve and can be life-threatening.
- In some people with LTBL, the features fall between mild and severe.
Diagnosis[edit | edit source]
- LTBL is characterized by changes in specific parts of the brain including the cerebellum, thalamus and brainstem.
- These changes can be seen by brain imaging exams (MRI).
- High levels of lactate in the blood and in the cerebral spinal fluid are also seen.
Treatment[edit | edit source]
- There is still no cure for this disease.
- Treatment is typically supportive based on presenting symptoms.
NIH genetic and rare disease info[edit source]
Leukoencephalopathy with thalamus and brainstem involvement and high lactate is a rare disease.
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