Early-onset calcifying leukoencephalopathy-skeletal dysplasia (EOCL-SD) is a rare genetic disorder characterized by progressive calcification of the white matter of the brain, skeletal abnormalities, and intellectual disability. It is caused by a mutation in the SLC20A2 gene, which is responsible for the production of a protein called phosphate transporter 2 (PIT2). Symptoms of EOCL-SD typically begin in infancy and include delayed motor and cognitive development, seizures, and skeletal abnormalities such as scoliosis and joint contractures. Treatment is supportive and may include physical and occupational therapy, medications to control seizures, and orthopedic surgery to correct skeletal deformities.

The symptoms of Early-onset calcifying leukoencephalopathy-skeletal dysplasia vary from person to person, but may include:

• Developmental delay
• Seizures
• Intellectual disability
• Movement disorders
• Abnormal facial features
• Abnormalities of the hands and feet
• Abnormalities of the spine
• Abnormalities of the ribs
• Abnormalities of the skull
• Abnormalities of the eyes
• Abnormalities of the ears
• Abnormalities of the heart
• Abnormalities of the kidneys
• Abnormalities of the liver
• Abnormalities of the lungs
• Abnormalities of the pancreas
• Abnormalities of the reproductive organs
• Abnormalities of the skin
• Abnormalities of the teeth

Early-onset calcifying leukoencephalopathy-skeletal dysplasia is a rare genetic disorder caused by mutations in the PEX1 gene. This gene is responsible for the production of an enzyme called peroxisomal biogenesis factor 1 (PEX1). Mutations in this gene lead to a decrease in the production of this enzyme, which in turn leads to the accumulation of certain substances in the brain and other organs. This accumulation of substances leads to the development of the symptoms associated with this disorder.

Currently, there is no known cure for Early-onset calcifying leukoencephalopathy-skeletal dysplasia. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help improve quality of life. Medications may also be prescribed to help manage seizures, pain, and other symptoms. Genetic counseling may also be recommended for families affected by the condition.

1. Genetic mutation in the PNPLA6 gene
2. Family history of the disorder
3. Male gender
4. Low birth weight
5. Premature birth
6. Low Apgar scores
7. Low levels of vitamin D
8. Exposure to certain environmental toxins

Unfortunately, there is no cure for Early-onset calcifying leukoencephalopathy-skeletal dysplasia. Treatment focuses on managing the symptoms and complications of the condition. Medications may be prescribed to help manage seizures, muscle spasms, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and function.