Differential Diagnosis for Mitochondrial Disorders with Cerebellar, Visual Symptoms, and Behavioural Abnormalities
- Single Most Likely Diagnosis
- MELAS Syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes): This condition is characterized by mitochondrial dysfunction leading to encephalomyopathy, lactic acidosis, and stroke-like episodes. It often presents with cerebellar symptoms, visual disturbances (including blindness), and a range of neurological and behavioral abnormalities, making it a strong candidate given the symptom profile.
- Other Likely Diagnoses
- MERRF Syndrome (Myoclonic Epilepsy with Ragged Red Fibers): Although primarily known for myoclonus and epilepsy, MERRF can also present with cerebellar ataxia, visual impairments, and psychiatric or behavioral abnormalities, making it a plausible diagnosis.
- Kearns-Sayre Syndrome (KSS): Characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects, KSS can also include cerebellar symptoms and behavioral changes, especially in its more severe forms.
- Do Not Miss Diagnoses
- Leigh Syndrome: A severe neurometabolic disorder that can present with a wide range of symptoms including cerebellar ataxia, visual loss, and severe developmental delays or regression. It's crucial to consider due to its poor prognosis and the potential for some treatments to mitigate its progression.
- Alper's Disease (Alpers-Huttenlocher Syndrome): A rare disorder characterized by progressive neuronal degeneration, often presenting with seizures, developmental regression, and liver disease. Visual and cerebellar symptoms can be part of the presentation, and early diagnosis is critical due to its severe outcome.
- Rare Diagnoses
- NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa): A rare mitochondrial disorder that affects the nervous system, primarily causing neuropathy, ataxia, and retinitis pigmentosa. Behavioral abnormalities can occur but are less commonly highlighted.
- Pearson Syndrome: A rare disorder characterized by sideroblastic anemia, exocrine pancreatic dysfunction, and liver disease, with some patients developing neurological symptoms including cerebellar ataxia and visual impairments. Its rarity and the presence of systemic symptoms make it a less likely but still possible diagnosis.