ABSTRACT
Seven first degree relatives in three generations of a family with partial sacral agenesis are reported. Anterior sacral meningoceles were found in five cases, four of whom had severe constipation, one with urinary voiding dysfunction, and another without constipation who had low pressure headaches and dyspareunia. The anomalad was transmitted in an autosomal dominant fashion with incomplete penetrance and variable expression. This entity should be considered in all children and adults with severe constipation from birth, a family history of constipation and/or where constipation is refractory to medical therapy.
Subject(s)
Abnormalities, Multiple , Constipation/etiology , Sacrum/abnormalities , Adult , Aged , Child , Chronic Disease , Constipation/genetics , Female , Humans , Infant , Male , Meningocele/complications , Pedigree , Sacrum/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
This report describes a case in which cocaine abuse during pregnancy was related temporally to abruptio placentae, preterm labour and to rapid delivery. The neonate developed respiratory distress with features of persistent pulmonary hypertension of the newborn and also signs of neurological dysfunction. He was managed by supportive therapy and has been followed-up to nine months of age. Perinatal cocaine intoxication, either directly or indirectly, is discussed as a cause of his cardiorespiratory and neurological maladaptation. As cocaine abuse appears to be an escalating problem in Australia, increased public awareness of the dangers of both acute and long-term abuse of the drug is seen as a priority in preventive care.
