Necrotizing encephalopathy, infantile subacute

Necrotizing Encephalopathy, Infantile Subacute (NEIS), also known as Leigh Syndrome, is a rare, inherited neurometabolic disorder characterized by the progressive degeneration of the central nervous system. The disease primarily affects infants and young children, leading to severe neurological impairment and a significantly shortened lifespan. This article provides an overview of NEIS, including its symptoms, causes, diagnosis, and treatment options.

Symptoms

The symptoms of NEIS typically manifest in infancy or early childhood, varying significantly among affected individuals. Common symptoms include:

• Progressive neurological deterioration
• Muscle weakness and hypotonia
• Movement disorders, such as ataxia or dystonia
• Respiratory difficulties
• Lactic acidosis
• Seizures
• Developmental delay or regression
• Optic atrophy in some cases

Causes

NEIS is primarily caused by genetic mutations that affect mitochondrial function. Mitochondria are the cell's power producers; they convert energy into forms that are usable by the cell. Mutations in genes related to mitochondrial function can lead to inadequate energy production, particularly affecting organs with high energy demands such as the brain, muscles, and heart. The most common genetic mutations associated with NEIS occur in the MT-ATP6 gene, although mutations in several other genes have also been implicated.

Diagnosis

Diagnosis of NEIS involves a combination of clinical evaluation, family history, and genetic testing. Diagnostic procedures may include:

• Magnetic resonance imaging (MRI) of the brain, which can reveal characteristic patterns of brain damage
• Blood and cerebrospinal fluid tests for elevated levels of lactate
• Muscle biopsy to examine for abnormal mitochondrial structure or function
• Genetic testing to identify specific mutations

Treatment

There is currently no cure for NEIS, and treatment focuses on managing symptoms and supporting affected individuals and their families. Treatment options may include:

• Medications to manage seizures and movement disorders
• Physical and occupational therapy to improve mobility and function
• Nutritional support to manage lactic acidosis
• Respiratory support for those with breathing difficulties
• Regular monitoring and supportive care to address complications as they arise

Prognosis

The prognosis for individuals with NEIS is generally poor, with many affected children not surviving past early childhood. However, the course of the disease can vary widely among individuals. Some may experience a more gradual progression of symptoms, while others may have a rapidly deteriorating course.

See Also

• Mitochondrial disease
• Genetic disorder
• Neurodegenerative disease

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