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We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140-E143. © 2014 Wiley Periodicals, Inc.

The early follow-up of patients treated by simple mastectomy alone or simple mastectomy combined with radical radiotherapy is presented. Both groups were well matched for age, menopausal status, duration of symptoms, size of tumour, and lymph-node involvement. There was no significant difference in survival of patients in the two groups at three years, but local recurrence was significantly more frequent (28%) in the mastectomy-alone patients. Early survival was not adversely affected by radiotherapy.

Jejunostomy is an alternative method for feeding patients who cannot be fed orally.1 However, there may be an associated morbidity and potential mortality.2 In the case presented, overdistension of a jejunostomy catheter balloon led to intestinal obstruction and pressure necrosis (of the small bowel), with subsequent abscess formation leading to death from septicemia. (Journal of Parenteral and Enteral Nutrition12:410-411, 1988)