Articles

Heterotaxy syndrome comprises a group of congenital anomalies resulting from disrupted left-right axis patterning during embryonic development, leading to an abnormal arrangement of the thoracic and abdominal organs [1]. It is a rare condition, with an estimated prevalence of approximately 1 per 10,000 live births, and is frequently associated with complex congenital heart defects, making it a life-threatening disorder with significant morbidity and mortality [1]. Clinically, heterotaxy syndrome is classified into right atrial isomerism (Ivemark syndrome) and left atrial isomerism. Ivemark syndrome represents the most severe form and is primarily characterized by asplenia, complex cardiovascular anomalies, and abnormal positioning of the thoracoabdominal organs [2]. In this condition, paired organs exhibit right-sided morphology bilaterally, commonly accompanied by functionally univentricular physiology, extensive septal defects, dextrocardia, and extracardiac malformations such as intestinal malrotation and congenital absence of the spleen [2,3]. Asplenia is a hallmark feature that markedly increases susceptibility to overwhelming bacterial infections, while the associated congenital heart defects account for the high morbidity and mortality observed during the neonatal period [2]. Herein, we report the case of a male neonate with clinical and imaging findings consistent with Ivemark syndrome who experienced a rapidly progressive and fatal clinical course during the first week of life. A comprehensive review of the available literature identified only a limited number of published cases and scarce documented evidence. Therefore, this case report is supported primarily by the currently available international literature.

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/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 diarhoea, 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. Cerebral palsy was diagnosed from the history of birth asphyxia, delayed developmental milestone, limb spasticity and low values for all sub-scores of Bayley-III scale. Heterotaxy syndrome was diagnosed from the radiologic evidence of dextrocardia, left-sided stomach, centrally located liver and malrotation of gut with volvulus. 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.