Aicardi-Goutieres syndrome 9
A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.
Also known as: AGS9, Aicardi-Goutieres syndrome 9.
Category: General
Symptoms associated with Aicardi-Goutieres syndrome 9
The following symptoms have been associated with Aicardi-Goutieres syndrome 9 in medical literature. Not everyone experiences the same symptoms.
Dry skin
Skin characterized by the lack of natural or normal moisture....
Edema
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Pericarditis
Inflammation of the sac-like covering around the heart (pericardium)....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Weight loss
Reduction of total body weight....
Tests used to investigate Aicardi-Goutieres syndrome 9
Healthcare providers may order these tests when evaluating Aicardi-Goutieres syndrome 9. Test selection is a clinical decision made by a qualified professional.
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Conditions with overlapping symptoms
These conditions share symptoms with Aicardi-Goutieres syndrome 9, which is why a clinical evaluation is important.
Acute adrenal insufficiency
Acute adrenal insufficiency is a medical condition that may be associated with various symptoms and signs....
Addison disease
Addison disease is a medical condition that may be associated with various symptoms and signs....
Aicardi-Goutieres syndrome 7
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene....
Dermatomyositis
Dermatomyositis is a medical condition that may be associated with various symptoms and signs....
Granulomatosis with polyangiitis
Granulomatosis with polyangiitis is a medical condition that may be associated with various symptoms and signs...
Late-onset isolated ACTH deficiency
Late-onset isolated ACTH deficiency is a medical condition that may be associated with various symptoms and si...
Frequently Asked Questions
What is Aicardi-Goutieres syndrome 9?
Aicardi-Goutieres syndrome 9 is a health condition described in medical literature. A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.
What are the symptoms of Aicardi-Goutieres syndrome 9?
Aicardi-Goutieres syndrome 9 is associated with 7 symptoms in the medical literature we index, including Dry skin, Edema, Failure to thrive, Hypertension, Pericarditis, Seizure. Symptoms vary widely between individuals.
How is Aicardi-Goutieres syndrome 9 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Aicardi-Goutieres syndrome 9 include Comprehensive Metabolic Panel (CMP), Uric Acid. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Aicardi-Goutieres syndrome 9, please discuss your symptoms with a qualified healthcare provider.