Abstract

Diagnostic criteria for Rett Syndrome are proposed by the International Rett Syndrome Association and the Centers for Disease Control, Koger Center, F-37, Atlanta, GA.

Highlights

  • The report of macrogyria in 3 of the patients and giant astrocytes in both patients with histological studies is suggestive of a forme fruste tuberous sclerosis that might be entertained in the differential diagnosis

  • Female sex is not included as a necessary criterion because the possibility of undiagnosed male cases cannot be ruled out

  • The clinical characteristics of Rett Syndrome and differential diagnoses are listed according to stages and age at onset: 1) Early onset deceleration stage, 6-18 mos; 2) rapid "destructive" stage, 1-3 yrs; 3) pseudostationary stage, 2-10 yrs; 4) late motor deterioration stage, 10+ years

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Summary

Introduction

The report of macrogyria in 3 of the patients and giant astrocytes in both patients with histological studies is suggestive of a forme fruste tuberous sclerosis that might be entertained in the differential diagnosis. Evidence of intrauterine growth retardation or perinatal acquired brain damage, microcephaly at birth, identifiable metabolic, degenerative or storage diseases are listed as exclusion criteria. The clinical characteristics of Rett Syndrome and differential diagnoses are listed according to stages and age at onset: 1) Early onset deceleration stage, 6-18 mos; 2) rapid "destructive" stage, 1-3 yrs; 3) pseudostationary stage, 2-10 yrs; 4) late motor deterioration stage, 10+ years.

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