Lethal neonatal spasticity-epileptic encephalopathy syndrome (LNS-EE) is a rare genetic disorder that affects the nervous system. It is characterized by severe spasticity, seizures, and developmental delay. Affected infants usually die within the first year of life. The cause of LNS-EE is unknown, but it is believed to be caused by a genetic mutation. Treatment is supportive and may include physical therapy, medications, and dietary modifications.

The symptoms of Lethal neonatal spasticity-epileptic encephalopathy syndrome include:

-Seizures
-Developmental delay
-Lethargy
-Feeding difficulties
-Spasticity
-Hypertonia
-Hypotonia
-Growth retardation
-Respiratory distress
-Gastrointestinal problems
-Visual impairment
-Hearing impairment
-Cardiac abnormalities
-Abnormal movements
-Cognitive impairment
-Behavioral problems

The exact cause of Lethal neonatal spasticity-epileptic encephalopathy syndrome is unknown. However, it is believed to be caused by a combination of genetic and environmental factors. Mutations in the SLC25A22 gene have been identified in some cases of the disorder. This gene provides instructions for making a protein that is involved in the transport of molecules across the inner membrane of mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. It is thought that mutations in this gene disrupt the transport of molecules, leading to an imbalance of energy production in cells and resulting in the signs and symptoms of Lethal neonatal spasticity-epileptic encephalopathy syndrome.

The primary treatment for Lethal neonatal spasticity-epileptic encephalopathy syndrome is supportive care. This includes providing nutrition, hydration, and respiratory support as needed. Medications may be used to control seizures and spasticity. Physical and occupational therapy may be used to help improve muscle strength and coordination. Speech therapy may be used to help improve communication skills. In some cases, surgery may be recommended to help improve mobility.

1. Maternal diabetes
2. Maternal obesity
3. Maternal smoking
4. Maternal alcohol consumption
5. Maternal age
6. Maternal infection
7. Maternal stress
8. Maternal nutritional deficiencies
9. Genetic mutations
10. Low birth weight
11. Premature birth
12. Low Apgar scores
13. Hypoxia
14. Intrauterine growth restriction
15. Neonatal sepsis
16. Neonatal hypoglycemia
17. Neonatal hypocalcemia
18. Neonatal hypomagnesemia
19. Neonatal hyponatremia
20. Neonatal hyperbilirubinemia

At this time, there is no known cure for Lethal neonatal spasticity-epileptic encephalopathy syndrome. However, there are medications that can be used to help manage the symptoms of the condition. These medications include anticonvulsants, muscle relaxants, and medications to help control spasticity. Additionally, physical and occupational therapy can help to improve the quality of life for those affected by the condition.