Constipation and soiling--outcome of treatment at one year.

AIM: To assess the outcome at one year of a cohort of patients referred to outpatient clinics with soiling. METHOD: Retrospective case note audit of 34 children referred to hospital outpatients over a four month period with soiling stated as the main problem in the referral letter. RESULTS: After one year, 29% of the 34 children studied were discharged to patient satisfaction, 38% defaulted from follow up, 24% were still attending outpatient clinics and 9% had been referred back to source. Coexisting pathologies, in particular enuresis and family stress, were found in several of the children. At the time of referral, 44% of new patients and 89% of re-referrals bad symptoms present for longer than 12 months. Only 18% of the children were receiving treatment at the time referral was made. CONCLUSION: Constipation is often undiagnosed until the problem is well established with soiling present, which makes treatment a long and often difficult process. It is necessary to consider the wider social and family issues when managing a child with constipation and soiling. Hospital based general medical and surgical outpatient clinics may not be the ideal setting in which to deal with these problems.

Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia.

Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with survival into adulthood. We present a case, a first-born child, where genetic counselling difficulties arose following ultrasound recognition of short-limbed dwarfism in association with polyhydramnios and an initial incorrect prenatal diagnosis of lethal chondrodysplasia. After birth of the surviving affected infant, the parents had great difficulty accepting that there had been a prenatal misdiagnosis and they were greatly disappointed by our inability to predict the postnatal survival of an infant to whom no hope of life had previously been given. The correct diagnosis was not made until the proband was nearly 1 year old, and the true prognosis then became clearer. This experience underlines the relative ease of prenatal recognition of skeletal growth abnormalities compared with the considerable difficulties experienced in reaching a precise diagnosis. Thus, following prenatal diagnosis of unspecified chondrodysplasia when parents seek definite information about the prognosis, the temptation to be either overpessimistic or overoptimistic should be avoided.