Prolonged survival to adulthood of an individual with hydranencephaly

Area of Science:

• Neurology
• Developmental Biology
• Medical Case Studies

Background:

• Hydranencephaly is a rare congenital disorder characterized by the absence of the cerebral hemispheres.
• The prognosis for infants with hydranencephaly is typically poor, with high mortality rates in early childhood.

Observation:

• A 22-year-old female patient with hydranencephaly presented with bedsores.
• Brain imaging revealed complete replacement of cerebral hemispheres with fluid, sparing the brainstem, cerebellum, and inferior frontal lobe.
• The patient exhibited basic responses to stimuli but lacked environmental awareness or meaningful actions.

Findings:

• This case represents the longest documented survival of a patient with hydranencephaly worldwide.
• The findings suggest potential for extended survival beyond typical expectations in select hydranencephaly cases.
• Preservation of brainstem and limited cortical structures may contribute to prolonged life.

Implications:

• This case expands the understanding of the potential clinical spectrum and survival timelines for hydranencephaly.
• It highlights the importance of comprehensive supportive care in managing rare neurological disorders.
• Further research into the neurological underpinnings of prolonged survival in hydranencephaly is warranted.