"Like mother, like son:" hereditary anterior sacral meningocele. Case report and review of the literature.
Anterior sacral meningocele (ASM) is a relatively rare, congenital disorder. Usually it presents sporadically, but there are case reports of hereditary ASMs and evidence of a dominant mode of inheritance. In this article the authors describe a case illustrating the hereditary nature of ASM and present available literature on the disease. The authors present the case of a 19-month-old boy in whom an ASM was diagnosed during a workup for constipation. The child's 31-year-old mother had been treated for the same condition 20 years earlier, when she had presented with back pain. These cases are discussed in the context of previous reports of similar cases. There are several case reports in the literature in which an ASM occurred as a familial, isolated disorder (in the absence of other caudal abnormalities or syndromes). The condition is reported more commonly in women, but it is unclear whether this is a true difference in prevalence or a diagnosis or reporting bias. A review of the literature indicates an autosomal-dominant inheritance with variable penetrance and presentation. Anterior sacral meningoceles can be hereditary. Given the potential complications of the disease if left untreated and the simplicity of screening--obtaining an abdominal radiograph and the patient's clinical history--we recommend screening of immediate family members of affected individuals. Surgical treatment is recommended if an ASM is discovered.
Gardner
Paul A
PA
Department of Neurosurgery, Children's Hospital of Pittsburgh, Pennsylvania, USA. gardpa@upmc.edu
Albright
A Leland
AL
D000328:Adult; D003248:Constipation / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008588:Meningocele / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D012447:Sacrum / Q000473:pathology