Organ growth in Rett syndrome: a postmortem examination analysis

Pediatr Neurol. 1999 Feb;20(2):125-9. doi: 10.1016/s0887-8994(98)00124-6.

Abstract

Rett syndrome is a disorder of unknown etiology in females that manifests as severe mental and motor retardation during the first years of life. A postnatal pattern of altered growth is its earliest clinical expression. Head growth decelerates during the first year of age and is followed by a decline in somatic (height/weight) growth. The decreased occipitofrontal circumference (OFC) is reflected in decreased brain size, and measurements of the dendrites of cortical neurons suggest that a developmental and growth arrest have occurred. To further document growth in Rett syndrome, measurements of organ weights, as recorded in 39 postmortem examination studies were compared with normal organ weights for females of comparable age and height. These organ weights suggest that the pattern of growth failure in Rett syndrome, as compared with other forms of mental handicap, such as Down syndrome and Turner's syndrome, may be unique. In Rett syndrome the rate of brain growth, as derived from OFC, decelerates after birth. The increment in normal brain weight after 4 years of age, the age of the first postmortem examinations, is not observed in the Rett brain. The heart, kidneys, liver, and spleen grow at the normally defined rate until 8-12 years of age, when their growth rate decelerates, but their growth continues achieving organ weights that are appropriate for the height of the female. Adrenal weights are normal. These observations suggest that despite a generalized decreased growth in Rett syndrome the brain may be preferentially affected in this syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Body Height
  • Brain / growth & development
  • Brain / pathology
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Disease Progression
  • Female
  • Growth Disorders / etiology
  • Growth Disorders / pathology*
  • Growth Disorders / physiopathology
  • Heart / growth & development
  • Humans
  • Kidney / growth & development
  • Kidney / pathology
  • Liver / growth & development
  • Liver / pathology
  • Reference Values
  • Rett Syndrome / complications
  • Rett Syndrome / pathology*
  • Rett Syndrome / physiopathology
  • Spleen / growth & development
  • Spleen / pathology