Alpers-Huttenlocher Syndrome (AHS), also known as Alpers syndrome or progressive neuronal degeneration of childhood with liver disease, is a rare and devastating genetic disorder that primarily affects the central nervous system and the liver. It is characterized by a progressive decline in neurological function, seizures, liver dysfunction, and developmental regression.
Synonyms for Alpers-Huttenlocher Syndrome include:
Individuals with AHS typically experience their first symptoms during infancy or early childhood. The initial signs may include developmental delays, loss of previously acquired skills, and seizures. As the disease progresses, seizures become more frequent and severe, leading to a decline in cognitive and motor functions. Neurological deterioration may manifest as muscle weakness, movement disorders, and difficulties with speech and swallowing.
Diagnosis of Alpers-Huttenlocher Syndrome involves:
Unfortunately, there is currently no cure for AHS. Treatment focuses on managing symptoms and providing supportive care. Antiepileptic medications are prescribed to control seizures, while physical, occupational, and speech therapies can help maintain functional abilities and improve quality of life.
Prognosis for individuals with Alpers-Huttenlocher Syndrome is generally poor:
It is important for individuals with AHS to receive ongoing medical care and support from a team of healthcare professionals experienced in managing rare genetic disorders.