stress-induced childhood-onset neurodegeneration with variable ataxia and seizures

Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

CONDSIAS is a rare, autosomal recessive neurodegenerative disorder characterized by pediatric onset of progressive brain atrophy, developmental regression, and seizures. It is caused by biallelic pathogenic mutations in the ADPRHL2 gene, which encodes ADP-ribosylhydrolase 3.

Key Features:

• Neurodevelopmental delay: Children with CONDSIAS often experience delayed or absent milestones in cognitive and motor development.
• Epilepsy: Seizures are a common feature of the disorder, ranging from mild to severe.
• Ataxia: Progressive ataxia, which affects coordination and balance, is another hallmark of CONDSIAS.
• Axonal neuropathy: Some individuals may experience axonal degeneration, leading to peripheral nerve damage.

Causes and Risk Factors:

• Genetic mutations: Biallelic pathogenic mutations in the ADPRHL2 gene are responsible for CONDSIAS.
• Stressors: Stressful events, such as infections or other forms of stress, can trigger the onset of symptoms in individuals with a genetic predisposition.

References:

• [1] by A Lu · 2022 · Cited by 11 — ADPRHL2 gene mutations have been demonstrated as the cause of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS).
• [4] Jun 27, 2024 — Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by biallelic pathogenic mutations in the ADPRHL2 gene.
• [8] by FO Lindskov · 2024 · Cited by 4 — Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an extremely rare, autosomal recessive neurodegenerative disorder.

Common Signs and Symptoms

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures is a rare condition that can manifest in various ways. The symptoms may include:

• Gait abnormalities: Difficulty walking or maintaining balance, which can be a result of cerebellar signs [2].
• Ataxia: Impaired coordination and balance, leading to difficulties with fine motor skills and overall physical stability [2, 4].
• Seizures: Episodic convulsions that can range from mild to severe in intensity [1, 4].
• Developmental delay: Slowed or halted development in children, which can be a result of the condition's impact on brain function [4].
• Muscle weakness: Weakness or wasting of muscles, particularly in the limbs [3].
• Impaired cognitive function: Difficulty with learning, memory, and other cognitive processes [1].

Additional Symptoms

In some cases, children with this condition may also experience:

• Autonomic nervous dysfunction: Abnormalities in heart rate, digestion, and other autonomic functions [8].
• Respiratory insufficiency: Difficulty breathing or maintaining adequate oxygen levels [7].
• Facial grimacing: Unusual facial expressions or posturing [7].

Important Note

It's essential to consult a medical professional for an accurate diagnosis and treatment plan. These symptoms can be indicative of various conditions, and only a qualified healthcare expert can

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is a rare genetic disorder that requires prompt diagnosis for effective management. Diagnostic tests for CONDSIAS typically involve a combination of clinical evaluations, laboratory tests, and imaging studies.

Clinical Evaluation

A thorough clinical evaluation is essential to diagnose CONDSIAS. This includes:

• Medical History: A detailed medical history of the child, including symptoms such as seizures, ataxia, and developmental delays.
• Physical Examination: A physical examination to assess for signs of neurodegeneration, such as muscle weakness, tremors, or coordination problems.
• Neurological Evaluation: A neurological evaluation to assess cognitive function, speech, and language skills.

Laboratory Tests

Laboratory tests can help confirm the diagnosis of CONDSIAS. These may include:

• Genetic Testing: Genetic testing for mutations in the ADPRHL2 gene, which is associated with CONDSIAS.
• Metabolic Workup: A metabolic workup to assess for abnormalities in cerebrospinal fluid lactate and amino acids.

Imaging Studies

Imaging studies can help identify structural abnormalities in the brain. These may include:

• Cranial MRI: A cranial MRI to assess for signs of neurodegeneration, such as atrophy or white matter lesions.
• EEG: An EEG to assess for abnormal electrical activity in the brain.

Other Diagnostic Tests

Other diagnostic tests that may be used to diagnose CONDSIAS include:

• Nerve Conduction Studies: Nerve conduction studies to assess for abnormalities in nerve function.
• Fundoscopic Evaluation: A fundoscopic evaluation to assess for signs of eye abnormalities.
• Audiological Evaluation: An audiological evaluation to assess for signs of hearing loss.

According to [5], ADPRHL2 gene mutations have been demonstrated as the cause of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS). This suggests that genetic testing may be a crucial diagnostic tool for CONDSIAS. Additionally, [4] mentions that a metabolic workup including cerebrospinal fluid lactate and amino acids nerve conduction studies, fundoscopic, audiological and cardiac evaluation, cranial MRI can help diagnose the condition.

References:

[1] by A Lu · 2022 · Cited by 11 — ADPRHL2 gene mutations have been demonstrated as the cause of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS).

[4] by G Ozturk · 2022 · Cited by 6 — Metabolic workup including cerebrospinal fluid lactate and amino acids nerve conduction studies, fundoscopic, audiological and cardiac evaluation, cranial ( ...

[5] by A Lu · 2022 · Cited by 11 — ADPRHL2 gene mutations have been demonstrated as the cause of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS).

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Differential Diagnosis of CONDSIAS

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive disorder. When considering the differential diagnosis for CONDSIAS, several conditions should be taken into account.

• Mitochondrial disorders: Mitochondrial diseases are a group of disorders that affect the mitochondria, the energy-producing structures within cells. These disorders can cause a wide range of symptoms, including seizures, developmental delay, and ataxia [4].
• Early-onset spastic ataxia: This condition is characterized by progressive muscle weakness and stiffness, often accompanied by ataxia and seizures [8].
• Torticollis attacks: Torticollis is a condition where the neck muscles become stiff, causing the head to be tilted to one side. In some cases, torticollis can be associated with CONDSIAS [6].
• Other neurodegenerative disorders: Other rare neurodegenerative disorders, such as ataxia-telangiectasia and Friedreich's ataxia, should also be considered in the differential diagnosis for CONDSIAS.

It is essential to note that the presentation and course of CONDSIAS can vary widely among affected individuals. A comprehensive diagnostic workup, including genetic testing and imaging studies, may be necessary to confirm a diagnosis of CONDSIAS [4].

References:

• [1] Ozturk et al. (2022) - CONDSIAS is a recently discovered clinical syndrome with a broad spectrum of clinical presentations.
• [4] Bajaj et al. (2022) - Stress-induced childhood onset neurodegeneration with ataxia and seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same disorder.
• [8] Bajaj et al. (2022) - Early-Onset Spastic Ataxia Due to a Variation in the ADPRHL2 Gene Presenting with Torticollis Attacks