703 Case Report - A Patient with Bone Formation Defects During Prenatal Life Diagnosed as 'Shwachman-Diamond Syndrome'

Abstract

s frequently delayed. One study demonstrated a mean delay to diagnosis of 1.7 years. Vague abdominal symptoms including chronic abdominal pain, intermittent non-bilious vomiting, diarrhoea and failure to thrive have been associated with malrotation, but hiccups and laughter have not previously been described. Recent review of diagnostic imaging recommended ultrasound as the investigation of choice, and may advocate its use in the work up of children presenting with non-specific abdominal symptoms. Although debated in the literature, a Ladd's procedure is recommended for all children, even if asymptomatic. Conclusion Children with intestinal malrotation present us with a diagnostic challenge, but a low threshold of suspicion in patients presenting with vague abdominal symptoms, including intractable hiccups or vomiting, may ensure these children receive the timely surgical intervention.