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Children with inverted facial expressions during laughter may have urofacial syndrome, a condition causing bladder and bowel issues. Early urological evaluation is recommended for affected individuals.
Area of Science:
- Pediatric Urology
- Genetics
- Neurology
Background:
- Enuresis and urinary tract infections (UTIs) are common pediatric conditions.
- Facial expression anomalies during laughter are rarely documented in association with urological issues.
Observation:
- A study observed 36 children with enuresis and UTIs exhibiting "inversion" of facial expression during laughter.
- These children presented with characteristic findings of mild neuropathic bladder.
- Severe urinary tract damage was noted in a majority of the cases, alongside moderate to severe constipation in about two-thirds.
Findings:
- A distinct association was found between distorted facial expression during laughter and neuropathic bladder.
- The condition, termed urofacial syndrome, involves genitourinary tract damage.
- Evidence suggests an autosomal recessive inheritance pattern, indicated by familial occurrence, normal parents, and increased consanguinity.
Implications:
- Urological evaluation should be considered for individuals presenting with "inversion" of facial expression during laughter.
- Recognition of urofacial syndrome can lead to earlier diagnosis and management of associated bladder and bowel dysfunction.
- Understanding the genetic basis aids in genetic counseling for affected families.
Abstract:
Between 1965 and 1986 we saw 36 children with enuresis and urinary tract infection in association with "inversion" of facial expression when laughing. Urologic work-up of these patients disclosed characteristic findings of mild neuropathic bladder in all cases, with severe urinary tract damage in most of them. The clear association of distortion in facial expression and neuropathic bladder with resultant damage to the genitourinary tract should prompt urological evaluation of individuals with "inversion" of facial expression. About two thirds of the patients also had moderate to severe constipation. We suggest the term urofacial syndrome for this disorder. The occurrence of the disorder in multiple sibs, normal parents, increased parental consanguinity, and equal sex ratio indicate autosomal recessive inheritance.