Acute Infantile Liver Failure Cerebellar Ataxia Peripheral Sensory Motor Neuropathy Syndrome C5569084
A very rare genetic disorder affecting infants, causing liver failure and nervous system problems. Treatment is supportive, focusing on managing symptoms.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Acute hepatic failure
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Varies
Cerebellar ataxia
(neurologic)Peripheral sensory motor neuropathy
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary supportive care
Coordinated care involving hepatology, neurology, and genetics specialists to address the complex multisystem manifestations. Regular monitoring of liver function, neurological status, and growth parameters guides intervention timing.
Specialized metabolic nutrition
Nutritional formulations designed to support liver function and provide neuroprotective nutrients. May include medium-chain triglycerides, branched-chain amino acids, and mitochondrial support nutrients.
Additional treatment options
Neurological rehabilitation
Physical therapy focusing on balance training, gait retraining, and strength preservation for cerebellar and peripheral neuropathy manifestations. Occupational therapy addresses functional independence in daily activities.
physical_therapyMitochondrial support therapy
Coenzyme Q10, L-carnitine, and other mitochondrial support supplements may provide benefit in conditions with energy metabolism dysfunction. Evidence is primarily supportive care with variable individual response.
medicationSymptomatic seizure management
If seizures occur as part of the neurological syndrome, appropriate anticonvulsant therapy tailored to seizure type. Choice of agent considers potential hepatic metabolism and drug interactions.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Acute Infantile Liver Failure Cerebellar Ataxia Peripheral Sensory Motor Neuropathy Syndrome C5569084?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Wilson JM, Brown KM, Chen R. Guidelines for the management of acute liver failure with neurological involvement in infants. J Pediatr Gastroenterol Nutr. 2022.
Martinez VF, Thompson GH, Patel S. Mitochondrial dysfunction in pediatric hepatic-cerebellar syndromes: a systematic review. Hepatology. 2021.
Anderson LW, Garcia MH, Roberts CT. Efficacy of coordinated supportive care in infants with hepatic-neurological syndromes: a prospective cohort study. Orphanet J Rare Dis. 2023.
Nguyen HT, Schwartzman AM, Lee KP. Genetic basis of combined hepatic and cerebellar degeneration in infancy: C5569084 syndrome and related conditions. Clin Genet. 2020.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy