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Chronic Intestinal Pseudo-Obstruction with Deficient Smooth Muscle Alpha-Actin; A Rare Diagnosis in Children

Sinha CK¹ , Butler C¹, Fell J², Haddad M¹

¹Dept. of Paediatric Surgery, Chelsea & Westminster Hospital, London

²Dept. of Paediatric Gastroenterology, Chelsea & Westminster Hospital, London



Munther Haddad

Department of Paediatric Surgery,Chelsea & Westminster Hospital

369 Fulham Road, London, SW10 9 NH

United Kingdom



Chronic intestinal pseudo-obstruction (CIPO) is a spectrum of disease with often ill-defined and poorly understood gastrointestinal (GI) smooth muscle abnormalities. We report a 3 year child of CIPO with alpha smooth muscle actin deficiency.



Chronic intestinal pseudo-obstruction (CIPO) is a spectrum of disease with often ill-defined and poorly understood gastrointestinal (GI) smooth muscle abnormalities [1]. Regardless of the cause, it is clinically characterized by recurrent episodes of vomiting, nausea, abdominal distension, and constipation in the absence of mechanical obstruction [2]. We report a 3 year child of CIPO with alpha smooth muscle actin deficiency. Only 2 such cases have been reported so far [1, 3]. Both of these cases were adult (21 year; 48 years), so this is the youngest case reported so far. Interestingly all the three cases (including ours) were female.

Case Report

A female child (fourth) of non-consanguineous caucasian parents was born at 38 weeks by elective cesarian section for placental abnormality. The antenatal scan showed distended bladder. There was no other relevant antenatal or family history. Over the first 3 months of life, there were recurrent episodes of urinary tract infection despite antibiotic prophylaxis. Serial ultrasonography demonstrated the bladder returning to normal size. With regards to the gastro-intestinal tract, there was a history of vomiting, abdomen distension and constipation since birth. She was diagnosed clinically as having gastroesophageal reflux and treated for that without much improvement. She opened bowel for the first time within 48 hours and then every 7 to 14 days producing toothpaste-like-stool despite being treated for constipation since one month of age. A rectal biopsy performed at that stage was ganglionic.

When examined in a urology clinic at three years age, her bladder was found to be hugely distended. An ultrasonography showed grossly distended bladder, bilateral hydronephrosis and hydroureter. A catheter drained 1.2 l of blood stained turbid urine. A suprapubic catheter was inserted. An urodynamics study showed acontractile large capacity bladder. MRI showed no spinal anomaly. She was found to be severely constipated (faecal loading up to hepatic flexure), so bowel washout was given. A repeat rectal biopsy showed normal ganglion cells. Three months after this admission, she was readmitted with severe bilious vomiting, abdominal distension, pain and dehydration. Abdominal X-ray showed distended bowel loops. A barium enema performed at that stage showed no filling beyond rectum with a tapered appearance suggestive of sigmoid volvulus. However that finding did not tally with clinical condition as her abdomen was soft and lax. Due to lack of further clinical progress, a laparotomy was planned, which revealed small bowel as collapsed, flabby and aperistaltic. The large bowel was of large diameter, flabby with no evidence of any peristalsis. An ileostomy was performed and multiple biopsies were taken from ileum, cecum and sigmoid colon. Routine histopathology (H&E) failed to reveal any abnormality. The bowel was ganglionic in all the specimens. There was no evidence of inflammation, fibrosis, vacuolation or atrophy in the myocytes of muscularis propia. Immunostaining showed absent smooth muscle alpha actin in circular muscle coat suggestive of chronic idiopathic intestinal pseudo-obstruction.

Further management has been with parenteral nutrition, nasogastric suction and general support. Prokinetics (domperidone and erythromycin) have been unhelpful. For the last one year, she is parenteral nutrition dependent and tolerating only minimal enteral feed countered by vomiting. She may be a candidate for intestinal transplantation.


CIPO is a spectrum of disease with obstructive features without a mechanical obstruction. It is generally classified into two types: neuropathic and myopathic, depending on whether the defect is in the complex enteric neuronal circuit or in the smooth muscle of bowel wall respectively [3]. Intestinal myopathy is a poorly understood entity. It often involves the entire gastrointestinal tract and may involve other organs, particularly the urinary tract and the gall bladder. Hence, it is also called visceral myopathies. Visceral myopathy occurs in approximately 1 in 40,000 live births. In about 40 to 70% of cases, urinary tract is involved [4, 5]. Routine histopathology usually fails to identify the abnormality, hence immunostaining and electron microscopy are required for diagnosis. The myopathic changes may be more pronounced in either longitudinal or circular layer. It may be associated with fibrosis and vacuolation of smooth muscle cell. It is important to understand that histopathology will be normal in some cases despite of all investigations [3, 6].

In a study of 27 cases with functional intestinal obstruction, 25 were found be congenital in origin. Of these, 18 cases had a diffuse disease affecting both the small bowel and large bowel. Seven had segmental abnormalities limited to distal colon and rectum. Two cases in that series were acquired and were due to an autoimmune process. Although, five histological phenotypes had been described in that study, only one female (48 years) had a marked decrease in smooth muscle alpha actin [3, 4]. In an another study of 12 cases with CIPO over 15 years period, only one 21 year female was found to have diminished expression of enteric alpha smooth muscle actin without associated muscular degeration or fibrosis [1].

Long-term outcome of these cases are not well known. In a study of 85 children with CIPO, 53 (62%) were dependent on either partial or total parenteral nutrition (PN) at the time of referral. After a median follow up of 25 months, 22 (26%) patients had died. The main cause of death in that study was complication related to parenteral nutrition [5]. In another study of 22 cases with CIPO, decompression ileostomy or colostomy was performed in 20 cases. Out of these, 11 (50%) remained partially or totally dependent on parenteral nutrition. Six (27%) underwent colectomy and ileorectal pull-through, of whom 4 (18%) recovered and 2 (9%) remained on PN. Mortality was 23 % in that series. Seventy seven percent of the children survived into their adult life with decompression surgery, judicious use of PN, careful treatment of urinary tract infection and bacterial overgrowth [7]. In another study, 12 children with severe gastrointestinal dysmotility received intestinal transplantation. Out of those, 6 were diagnosed as megacystis microcolonintestinal hypoperistalsis syndrome, 4 were having chronic idiopathic intestinal pseudo-obstruction, and 2 had intestinal neuronal dysplasia. The survival in that series was 66.7% at 1 year and 50% at 3 years. Authors concluded that multivisceral transplantation is a valuable therapeutic alternative treatment for those children, who can’t be managed adequately with TPN [8].

This case report brings to light a unique case of visceral myopathy, which is a poorly understood clinicopathological entity. Immunohistochemical techniques are mandatory in diagnosis of these rare cases. As most of these children can survive into their adult life, the challenge to further understand these conditions lies in early diagnosis of the disease process in the childhood. With increasing success rate of intestinal transplantation, these children might see a dawn of normal life in future.




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