Cerebral Palsy and Heterotaxy Syndrome: A Case Report

Background: Cerebral palsy is not only a serious neurodevelopmental disease causing significant morbidity in children, but also a traumatic experience leading to psychosocial trauma to the parents or caregivers of the affected children. It is usually caused by prenatal or early post-natal insults to the newborn brain which may be associated with some congenital syndromes like congenital heart disease with transposition of the viscera but rarely a heterotaxy syndrome, a condition characterized with congenitally abnormal arrangement of the thoracic and abdominal viscera.Method: We present a case report of a 12 month old boy with neurodevelopmental delay, recurrent episodes of non-mucoid and non-bloody diarrhea, occasional constipation, bilious vomiting, abdominal distension and fever with associated cough and difficulty in breathing.Results: We discuss an unusual presentation of cerebral palsy and heterotaxy syndrome diagnosed clinically with supporting evidence from both laboratory and radiological tests. We also provide a brief literature review of the incidence and prevalence, causes and risk factors, classification, clinical presentation and associated co-morbidities of heterotaxy syndrome.Conclusion: Diagnosis of heterotaxy syndrome in a child with background cerebral palsy is a great challenge to both physicians and radiologists. This is more so in developing countries due to poor availability of good diagnostic apparatus, therefore, a high index of suspicion is needed. A clear understanding of the clinical features, comprehensive history taking and thorough physical examination are important in making prompt diagnosis. Timely and appropriate imaging is necessary to prevent delays in diagnosis and treatment which lead to poor outcomes.