Rajabally Fatimah, Alkhaldi Rama, Huang Helen, Said Mohammad, Elnakoury Farah, Avanthika Chaithanya, Abdool Fouad
School of Medicine, Royal College of Surgeons in Ireland, Dublin, IRL.
Medicine and Surgery, Karnataka Institute of Medical Sciences, Hubli, IND.
Cureus. 2023 Jan 12;15(1):e33680. doi: 10.7759/cureus.33680. eCollection 2023 Jan.
Hirschsprung's disease is a rare disease characterized by the complete absence of ganglionic cells in the colon, thereby causing loss of peristalsis movement of the bowel. Most cases are diagnosed before the age of one. Here, we present a case of a newborn baby boy who was not feeding well and then developed a distended abdomen and began bilious vomiting. Blood mucoid stools were also observed. The diagnosis of Hirschsprung's disease was confirmed through a full-thickness rectal biopsy, and the Duhamel surgical procedure was performed as a course of treatment all within the first few days of birth. No complications were reported, and the baby was safely discharged after seven days. This case demonstrates the importance of timely treatment after prompt diagnosis due to the early recognition of the severe symptoms. Even though this disease is rare, pediatricians should be trained to recognize and treat the child to prevent further detrimental outcomes.
先天性巨结肠是一种罕见疾病,其特征是结肠中完全没有神经节细胞,从而导致肠道蠕动丧失。大多数病例在一岁前被诊断出来。在此,我们报告一例男婴病例,该男婴起初喂养不佳,随后出现腹部膨胀并开始胆汁性呕吐。还观察到血性黏液便。通过全层直肠活检确诊为先天性巨结肠,并在出生后的头几天内进行了杜哈梅尔手术作为治疗方法。未报告并发症,婴儿在七天后安全出院。该病例表明,由于早期识别出严重症状,及时诊断后及时治疗非常重要。尽管这种疾病罕见,但儿科医生应接受培训以识别和治疗此类患儿,以防止出现进一步的有害后果。