Celiac disease-epilepsy-cerebral calcification syndrome (CECS) is a rare genetic disorder characterized by the presence of celiac disease, epilepsy, and cerebral calcification. It is caused by a mutation in the SLC19A3 gene, which is responsible for the production of a protein involved in the absorption of certain nutrients. Symptoms of CECS include seizures, developmental delay, and failure to thrive. Treatment typically involves a gluten-free diet, anticonvulsant medications, and other therapies to manage symptoms.

The symptoms of Celiac disease-epilepsy-cerebral calcification syndrome vary depending on the individual, but may include:

• Seizures

• Developmental delays

• Intellectual disability

• Abnormal EEGs

• Abnormal brain imaging

• Abnormal blood tests

• Gastrointestinal symptoms such as abdominal pain, bloating, diarrhea, and constipation

• Nutritional deficiencies

• Skin rashes

• Anemia

• Osteoporosis

• Delayed puberty

• Short stature

• Fatigue

• Depression and anxiety

Celiac disease-epilepsy-cerebral calcification syndrome is a rare genetic disorder caused by a mutation in the SLC12A6 gene. This gene is responsible for the production of a protein called sodium-dependent chloride-bicarbonate transporter 2 (SLC12A6). This protein is responsible for transporting chloride and bicarbonate ions across the cell membrane. Mutations in this gene can lead to an inability to transport these ions, resulting in an accumulation of chloride and bicarbonate in the brain, leading to seizures and cerebral calcification.

The treatments for Celiac disease-epilepsy-cerebral calcification syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms of the condition, which may include dietary changes, medications, and lifestyle modifications. Dietary changes may include following a gluten-free diet, which is the primary treatment for celiac disease. Medications may be prescribed to help control seizures and other neurological symptoms. Lifestyle modifications may include avoiding certain triggers, such as stress, and getting adequate rest and exercise. In some cases, surgery may be necessary to remove calcified areas in the brain.

1. Family history of celiac disease
2. Genetic predisposition
3. Certain autoimmune disorders
4. Certain neurological disorders
5. Certain medications
6. Exposure to certain environmental toxins
7. Low birth weight
8. Premature birth
9. Malnutrition
10. Stress

Unfortunately, there is no known cure for Celiac disease-epilepsy-cerebral calcification syndrome. However, medications can be used to manage the symptoms of the condition. These medications may include anticonvulsants, anti-inflammatory drugs, and immunosuppressants. Additionally, a gluten-free diet is recommended to help reduce the symptoms of the condition.