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Microcephaly, an etiopathogenic vision

Luis Eduardo Becerra-Solano1, Leovigildo Mateos-Sánchez2, Eunice López-Muñoz1

  • 1Medical Research Unit in Reproductive Medicine, Unidad Médica de Alta Especialidad, Hospital de Gineco Obstetricia No. 4, "Luis Castelazo Ayala", Instituto Mexicano del Seguro Social, Río Magdalena 289, Level 6, Laboratory K, Colonia Tizapan San Ángel, Alcaldía Álvaro Obregón, C.P. 01090, Mexico City, Mexico.

Pediatrics and Neonatology
|June 11, 2021
PubMed

Insights

Microcephaly, a condition of reduced head size, has diverse causes including genetic and environmental factors. Early diagnosis and management are crucial for improving neurodevelopmental outcomes.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Microcephaly is defined as an occipital-frontal head circumference (OFD) 2 standard deviations (SD) below the population average.
  • Incidence rates vary widely, from 1.3 to 150 cases per 100,000 births.
  • Etiology is heterogeneous, involving genetic and non-genetic factors impacting brain development.

Purpose of the Study:

  • To review current information on microcephaly.
  • To reinforce the need for an etiopathogenic approach in diagnosis and management.
  • To highlight the multidisciplinary diagnostic requirements.

Main Methods:

  • Review of available scientific literature on microcephaly.
  • Analysis of diagnostic approaches including medical history, clinical evaluation, neuroimaging, and genetic testing.
  • Discussion of pathophysiological mechanisms and intervention strategies.

Main Results:

  • Identified varied genetic and non-genetic causes affecting neuronal processes (differentiation, proliferation, migration, DNA repair, apoptosis).
  • Emphasized the necessity of a multidisciplinary diagnostic approach.
  • Confirmed the absence of specific treatments to increase brain growth but highlighted the importance of early interventions.

Conclusions:

  • An etiopathogenic approach is essential for effective microcephaly diagnosis and management.
  • Timely interventions can improve motor and neurocognitive development.
  • Genetic counseling is a key component of management.
Keywords:
Syndromicmicrocephalyacquired microcephalycongenital microcephalyisolated microcephalymicrocephaly primary hereditary (MCPH)

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