A Case of Townes-Brocks Syndrome

Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral renal agenesis.

Efficacy and Safety of Polyethylene Glycol(PEG) with Electrolytes for Disimpaction in Children with Chronic Functional Constipation

PURPOSE: Polyethylene glycol(PEG) with electrolytes has been used for intestinal clearance for colonoscopy and operations in children. But its efficacy and safety for disimpaction in children with chronic functional constipation has been studied little. METHODS: This study enrolled 26 patients with chronic functional constipation(11 children had failed to disimpaction by conventional management at OPD) who were admitted to the Eul-Ji Hospital between May 2000 and July 2003. PEG with electrolytes was administered per oral and/or rectal enema. We observed the effects for disimpaction by measuring the frequency and consistency of stools, and by simple abdominal X-ray. We evaluated the safety by measuring serum electrolytes and osmolarity in three hours after PEG with electrolytes administration, and by observation of the clinical status of the patients. The protocol of PEG with electrolytes was a dose of 60-80 mL/kg within three hours per oral and/or of 15-25 mL/kg by rectal enema. RESULTS: In all patients, simple abdominal X-ray films showed improvements of fecal impaction. Consistency and frequency of stool were improved in all patients except one. As for side effects, diarrhea developed in three patients(11.5% of all patients). Headaches developed in one patient(3.8% of all patients) but it improved without treatment. Serum electrolytes was checked in 16 patients after PEG with electrolytes management and mild hypernatremia(146 mmol/L) was checked in one patient. Serum osmolarity was checked in 11 patients after PEG with electrolytes management and was normal in all patients. CONCLUSION: PEG with electrolytes was effective and safe for disimpaction in children with chronic functional constipation, including patients who had failed in disimpaction by conventional management.