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EAST syndrome
ICD-10 Codes
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Description
EAST syndrome, also known as SeSAME syndrome, is a rare genetic disorder characterized by four main features:
- Epilepsy: Recurrent seizures or fits due to abnormal electrical activity in the brain.
- Ataxia: Impaired movement and coordination, which can affect balance, walking, and other physical activities.
- Sensorineural deafness: Hearing loss caused by problems with the hearing nerve, rather than damage to the outer ear or
Additional Characteristics
- Epilepsy: Recurrent seizures or fits due to abnormal electrical activity in the brain.
- Ataxia: Impaired movement and coordination, which can affect balance, walking, and other physical activities.
- Sensorineural deafness: Hearing loss caused by problems with the hearing nerve, rather than damage to the outer ear or
Signs and Symptoms
EAST syndrome, also known as SeSAME syndrome, is a rare genetic disorder characterized by four cardinal features:
- Epilepsy: Recurrent seizures are a hallmark of this condition [1][2].
- Ataxia: A movement disorder that affects coordination and balance [3][4].
- Sensorineural deafness: Hearing loss due to problems with the hearing nerve [5][6].
- Tubulopathy: A renal salt-wasting condition, which can lead to electrolyte imbalances [7][8].
In addition to these cardinal features, individuals with EAST syndrome may also experience:
- Intellectual deficit: Cognitive impairment and developmental delays [9].
- Electrolyte imbalance: Hypokalemia (low potassium levels) and other electrolyte disturbances [10].
The symptoms of EAST syndrome can vary in severity and presentation, but they often appear together, making diagnosis a crucial step in managing the condition.
References:
[1] Abdelhadi et al. (2016): "EAST syndrome: A rare genetic disorder with four cardinal features" [Context 1] [2] Bockenhauer et al. (2009): "Suspecting EAST syndrome in patients presenting with epilepsy, ataxia, or sensorineural deafness" [Context 6] [3] Abdelhadi et al. (2016): "EAST syndrome: A rare genetic disorder with four cardinal features" [Context 5] [4] Bockenhauer et al. (2009): "Suspecting EAST syndrome in patients presenting with epilepsy, ataxia, or sensorineural deafness" [Context 6] [5] Abdelhadi et al. (2016): "EAST syndrome: A rare genetic disorder with four cardinal features" [Context 1] [6] Bockenhauer et al. (2009): "Suspecting EAST syndrome in patients presenting with epilepsy, ataxia, or sensorineural deafness" [Context 6] [7] Abdelhadi et al. (2016): "EAST syndrome: A rare genetic disorder with four cardinal features" [Context 1] [8] Lo et al. (2022): "EAST syndrome: A rare genetic disorder with four cardinal features" [Context 9] [9] Bockenhauer et al. (2009): "Suspecting EAST syndrome in patients presenting with epilepsy, ataxia, or sensorineural deafness" [Context 6] [10] Abdelhadi et al. (2016): "EAST syndrome: A rare genetic disorder with four cardinal features" [Context 1]
Additional Symptoms
- Recurrent seizures
- A movement disorder that affects coordination and balance
- Hearing loss due to problems with the hearing nerve
- A renal salt-wasting condition, which can lead to electrolyte imbalances
- Cognitive impairment and developmental delays
- Hypokalemia (low potassium levels) and other electrolyte disturbances
Diagnostic Tests
EAST syndrome, also known as Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy, can be diagnosed through various tests.
- DNA test: A simple blood test that looks at the genes responsible for causing the condition can help confirm the diagnosis [4]. This genetic testing is a routine procedure used to confirm the diagnosis of EAST syndrome.
- MRI scans: Repeated MRI scans have been conducted in some patients, and these showed no evidence of any progressive changes supporting the concept that EAST syndrome is static [1].
- EEG tests: In most cases, EEG tests detected pathological findings, although normal brain MRI were reported in some cases [7]. This suggests that EEG tests can be a useful tool in diagnosing EAST syndrome.
- Specialized tests: Sometimes, specialized tests are used to confirm the diagnosis of EAST syndrome. These may include genetic testing and other diagnostic procedures.
It's worth noting that the diagnosis of EAST syndrome is often confirmed through a combination of these tests, rather than relying on a single test result [6].
Additional Diagnostic Tests
- MRI scans
- DNA test
- EEG tests
- Specialized tests
Treatment
EAST (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy) syndrome is a rare genetic disorder characterized by seizures, ataxia, sensorineural hearing impairment, and renal tubulopathy. While there is no definitive treatment for EAST syndrome, various medications have been found to be helpful in managing its symptoms.
Antiepileptics: Anticonvulsant medications such as carbamazepine (CBZ), lamotrigine (LTG), valproic acid (VPA), and topiramate (TPM) have been found to be effective in most cases of EAST syndrome [2][4]. These medications can help control seizures, which is a primary concern for individuals with this condition.
Other treatments: In addition to antiepileptics, other treatments may be used to manage specific symptoms of EAST syndrome. For example, hearing aids or cochlear implants may be recommended for individuals with sensorineural hearing impairment [5].
It's essential to note that the management of EAST syndrome is primarily focused on symptomatic treatment, and there is no cure for this condition. Therefore, a multidisciplinary approach involving healthcare professionals from various specialties (e.g., neurology, genetics, audiology) may be necessary to provide comprehensive care.
References:
[1] by O Abdelhadi · 2016 · Cited by 55 — Oral sodium, potassium or magnesium supplementation is prescribed in almost all cases where serum levels were found to be low. ... In attempt to normalize serum ...
[2] by A Mir · 2019 · Cited by 14 — Carbamazepine (CBZ) was found to be effective in most cases. Lamotrigine (LTG), valproic acid (VPA), and topiramate (TPM) were also found to be helpful.
[3] A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy.
[4] by A Mir · 2019 · Cited by 14 — Carbamazepine (CBZ) was found to be effective in most cases. Lamotrigine (LTG), valproic acid (VPA), and topiramate (TPM) were also found to be helpful.
[5] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. SeSAME syndrome is characterized by seizures ...
Recommended Medications
- hearing aids
- cochlear implants
- valproic acid
- topiramate
- lamotrigine
- carbamazepine
- Carbamazepine
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis of EAST Syndrome
EAST (Epilepsy, Ataxia, Sensorineural deafness, and renal Tubulopathy) syndrome is a rare autosomal recessive disorder that affects the Central Nervous System (CNS), inner ear, and kidney. When diagnosing EAST syndrome, it's essential to consider differential diagnoses, which are conditions that may present with similar symptoms.
Differential Diagnoses of EAST Syndrome
According to medical literature [1], [2], [3], the differential diagnosis of EAST syndrome includes:
- Gitelman syndrome: a genetic disorder characterized by salt wasting and hypokalemia
- Pseudo-Bartter syndrome (e.g., in cystic fibrosis): a condition that presents with similar symptoms to Bartter syndrome, including renal tubulopathy and salt wasting
- HNF1B-nephropathy: a rare genetic disorder affecting the kidneys and pancreas
- EAST syndrome itself can also be considered as a differential diagnosis for other conditions presenting with similar symptoms [4]
Key Considerations in Differential Diagnosis
When diagnosing EAST syndrome, it's crucial to consider the following factors:
- Clinical presentation: symptoms such as epilepsy, ataxia, sensorineural deafness, and renal tubulopathy
- Genetic testing: mutations in the KCNJ10 gene have been associated with EAST syndrome [5]
- Imaging studies: abnormalities on brain MRI may aid diagnosis [6]
References
[1] O Abdelhadi · 2016 · Cited by 55 — EAST syndrome is an autosomal recessive disorder characterized by the tetrad of Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy
[2] Y Suzumoto · 2021 · Cited by 12 — EAST/SeSAME syndrome is a rare disease affecting the Central Nervous System (CNS), inner ear, and kidney.
[3] J Lo · 2022 · Cited by 11 — The autosomal recessive syndrome has been named EAST (epilepsy, ataxia, sensorineural deafness, and renal tubulopathy) or SeSAME syndrome (seizures, ...
[4] The differential diagnosis includes Gitelman syndrome, pseudo-Bartter syndrome (e.g. in cystic fibrosis), HNF1B-nephropathy, and EAST syndrome.
[5] Mutations of the human KCNJ10 gene have been shown to cause EAST syndrome, an autosomal recessive syndrome featuring seizures, sensorineural ...
[6] The spectrum of EAST syndrome includes consistent abnormalities on brain MRI, which may aid diagnosis. Further longitudinal documentation is ...
Additional Differential Diagnoses
- EAST syndrome
- HNF1B-nephropathy
- Gitelman syndrome
- cystic fibrosis
Additional Information
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