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Holoprosencephaly from conception to adulthood.

Karin Weiss1, Paul S Kruszka2, Eric Levey3

  • 1Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

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|September 6, 2018
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Summary

Holoprosencephaly (HPE) is a brain malformation with variable outcomes. This review covers clinical management strategies for HPE patients from prenatal diagnosis through adulthood.

Keywords:
holoprosencephaly adult child management

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Area of Science:

  • Developmental Biology
  • Pediatric Neurology
  • Clinical Genetics

Background:

  • Holoprosencephaly (HPE) is a congenital brain malformation characterized by the incomplete separation of the forebrain.
  • Clinical presentation and outcomes in HPE exhibit significant variability, influenced by the specific subtype identified through neuroimaging.
  • While early mortality is frequent, a notable proportion of individuals with HPE survive into childhood and adulthood, necessitating long-term care.

Purpose of the Study:

  • To provide a comprehensive overview of the clinical management of Holoprosencephaly (HPE).
  • To address the evolving needs of HPE patients across different life stages, from prenatal diagnosis to adulthood.

Main Methods:

  • Literature review focusing on clinical management protocols for Holoprosencephaly (HPE).
  • Synthesis of information regarding diagnostic approaches and therapeutic interventions.
  • Discussion of age-specific challenges and management strategies in HPE.

Main Results:

  • Clinical management of HPE requires a multidisciplinary approach tailored to the specific subtype and patient age.
  • Prenatal diagnosis allows for early planning and intervention.
  • Long-term care in childhood and adulthood focuses on managing associated medical, developmental, and psychosocial issues.

Conclusions:

  • Effective clinical management of Holoprosencephaly (HPE) spans the entire lifespan, from prenatal assessment to adult care.
  • Understanding the spectrum of HPE and its associated complexities is crucial for optimizing patient outcomes and quality of life.