SeSAME syndrome

Other Names: Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; Epilepsy, ataxia, sensorineural deafness and tubulopathy; EAST syndrome; Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance; Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome

SeSAME syndrome is characterized by Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).

Cause

It is caused by mutations in the KCNJ10 gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive pattern.

Signs and symptoms

Seizures tend to start in early childhood. The seizures are typically of the generalized tonic-clonic seizure type (also known as grand mal seizures), but they usually respond well to medication. Non-progressive, cerebellar ataxia and hearing loss start later. The ataxia seems to be the most debilitating feature of the syndrome.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal renal tubule morphology
• Ataxia
• Failure to thrive(Faltering weight)
• Global developmental delay
• Intellectual disability, moderate(IQ between 34 and 49)
• Seizure
• Sensorineural hearing impairment

30%-79% of people have these symptoms

• Abnormality of the mitochondrion

5%-29% of people have these symptoms

• Chronic axonal neuropathy
• Peripheral hypomyelination
• Short stature(Decreased body height)

Diagnosis

Molecular Genetics Tests

• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Deletion/duplication analysis
• Targeted variant analysis

Treatment

Treatment includes antiepileptic medication, physical, educational and speech therapy, hearing aid and management of the kidney and electrolytes problems.

NIH genetic and rare disease info

• NIH info on SeSAME syndrome

SeSAME syndrome is a rare disease.