6414 A case report on cricopharyngeal achalasia in a child with 49XXXXY: rare finding in a rare genetic disorder

Objectives To describe a case report on cricopharyngeal achalasia in an infant with 49XXXXY genetic disorder. Methods The case report describes a rare diagnosis of cricopharyngeal achalasia in a rare genetic disorder of 49XXXXY. Informed consent was obtained from parents. It highlighted the presentation with nonspecific clinical symptoms and signs leading to challenges in the final diagnosis, also the supporting investigations to confirm the diagnosis Results An 11-month-old male infant with a rare genetic disorder of 49XXXXY presented with recurrent choking, aspirations, and chest infections. Born at 36 weeks due to intrauterine growth restriction, after an uneventful antenatal course with a birth weight of 2.28 kg. Admitted postnatally due to respiratory distress, and hypotonia. He had electrolyte imbalance with high sodium and serum osmolarity and MRI brain suggestive of conatal cysts adjacent to the frontal horns of both lateral ventricles. He had ongoing issues of striking hypotonia, recurrent aspirations with chest infections, poor weight gain, developmental delay and micro-penis on examination, that led to investigations including genetics and metabolic diseases. At 8 months, he was diagnosed to have a rare genetic disorder of 49XXXXY. A video fluoroscopy was performed showing indentation at cricopharyngeal muscle, consistent with cricopharyngeal achalasia, explaining, recurrent aspirations. Conclusion Cricopharyngeal achalasia is a rare diagnostic entity. The spectrum of associated signs and symptoms can reflect numerous diseases and rare genetic disorders, hence it can be misleading. The key to diagnosis is to have a high index of suspicion as early diagnosis and management can prevent any morbidity or mortality.