A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma

Clin Dysmorphol. 1999 Oct;8(4):283-6.

Abstract

Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Developmental Disabilities*
  • Head / abnormalities*
  • Humans
  • Intestines / abnormalities*
  • Lymphangiectasis / congenital*
  • Male
  • Pigmentation Disorders
  • Psychomotor Performance
  • Skin / blood supply*