Almoosa Naila, Alshehabi Nagham, Khan Farheen, Elmiaari Mira, Magzoub Alia, Saleh Maysa
Pediatrics, Al Jalila Children's Specialty Hospital, Dubai, ARE.
General Pediatrics, Al Jalila Children's Specialty Hospital, Dubai, ARE.
Cureus. 2025 May 20;17(5):e84449. doi: 10.7759/cureus.84449. eCollection 2025 May.
Visceral myopathy is a rare and complex congenital disorder primarily impacting the gastrointestinal and urologic systems. Among its manifestations, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) represents the most severe form. Typically, this condition has a poor prognosis, with all reported cases necessitating lifelong parenteral nutrition, frequent surgical interventions, and intermittent catheterization. We present the case of a three-month-old female infant with a history of -related MMIHS who presented with oliguria, emesis (non-bilious to bilious), and fever of 38.9°C over a two-day period. A gastrointestinal panel identified enteroaggregative , and imaging revealed distended bowel loops without evidence of ischemia, microcolon, or obstructive lesions. The distended bladder required temporary catheterization, which was later removed. Initial parenteral nutrition was discontinued after eight days as the infant tolerated oral feeds well. The hospitalization was further complicated by a urinary tract infection and thrombocytosis, but the patient was ultimately discharged on full oral feeds with spontaneous urine output. This case contrasts the typical poor prognosis of visceral myopathy and MMIHS with a favorable outcome. The patient, who led an asymptomatic life until three months of age, avoided surgical interventions, long-term parenteral nutrition, and intermittent catheterization, interventions commonly required for MMIHS. After identifying an underlying infection that triggered pseudo-obstructive symptoms, symptomatic management was implemented. Once the infection resolved, no further interventions were necessary. This approach was not only cost-effective but also reduced the physical and emotional burden of the family, underscoring the importance of early diagnosis and targeted treatment for positive outcomes.
内脏肌病是一种罕见且复杂的先天性疾病，主要影响胃肠和泌尿系统。在其表现中，巨膀胱-小结肠-肠蠕动减弱综合征（MMIHS）是最严重的形式。通常，这种疾病预后较差，所有报道的病例都需要终身肠外营养、频繁的手术干预和间歇性导尿。我们报告了一例三个月大的女婴病例，该女婴有与MMIHS相关的病史，在两天内出现少尿、呕吐（从非胆汁性到胆汁性）和38.9°C的发热。胃肠道检查发现了聚集性肠杆菌，影像学显示肠袢扩张，无缺血、小结肠或梗阻性病变的证据。扩张的膀胱需要临时导尿，后来导尿管被拔除。由于婴儿口服喂养耐受良好，八天后停止了初始肠外营养。住院期间因尿路感染和血小板增多症而使病情更加复杂，但患者最终以完全口服喂养且自主排尿出院。该病例与内脏肌病和MMIHS典型的不良预后形成对比，结果良好。该患者在三个月大之前一直无症状，避免了MMIHS通常所需的手术干预、长期肠外营养和间歇性导尿。在确定引发假性梗阻症状的潜在感染后，实施了对症治疗。一旦感染得到解决，就无需进一步干预。这种方法不仅具有成本效益，还减轻了家庭的身体和情感负担，突出了早期诊断和针对性治疗以取得良好结果的重要性。
