Macrocephaly with multiple lipomas and hemangiomas
Zonana, J.; Rimoin, D.L.; Davis, D.C.
Journal of Pediatrics 89(4): 600-603
1976
ISSN/ISBN: 0022-3476 PMID: 957004 Document Number: 109945
This family displayed a syndrome consisting of macrocephaly with mulitple subcutaneous and visceral hemangiomas, lipomas and lymphangiomas. Certain features, such as multiple lipomas and macrocephaly, may each be inherited as separate autosomal dominant traits. The vertical transmission of father to sons indicated a probable autosomal dominant inheritance. The macrocephaly in these cases was of prenatal onset and may represent megalencephaly. Neurologic and intellectual development appeared normal. There were no signs of CNS storage disease or hydrocephalus, secondary to a vascular malformation, as previously seen in disseminated hemangiomatosis. The family declined further evaluation of the macrocephaly by computerized axial tomography. An increased prenatal growth rate, which was also seen in early infancy, was noted with a subsequent decline. Awareness of the benign nature of macrocephaly should help to avoid unnecessary concern, or inappropriate intervention. Its genetic etiology, with an apparent autosomal dominant pattern of inheritance, with variable severity of expression, is of obvious importance for genetic counseling.