A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma.
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.
Thong
M K
MK
South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, Australia. thongmk@mail.wch.sa.gov.au
Thompson
E
E
Keenan
R
R
Simmer
K
K
Harbord
M
M
Davidson
G
G
Haan
E
E
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002658:Developmental Disabilities; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007422:Intestines / Q000002:abnormalities*; D008200:Lymphangiectasis / Q000151:congenital*; D008297:Male; D010859:Pigmentation Disorders; D011597:Psychomotor Performance; D012867:Skin / Q000098:blood supply*