Atypical onset of total colonic Hirschsprung disease in a small female infant

Mărginean, Cristina Oana; Meliţ, Lorena Elena; Gozar, Horea; Horváth, Emőke; Mărginean, Cristina Oana

doi:10.1097/md.0000000000012315

Cited by 4 publications

(10 citation statements)

References 28 publications

(41 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as DS, or for those with a family history of HD [5]. Occasionally, affected infants may present with enterocolitis, a potentially life-threatening illness in which patients have a sepsis-like picture and can progress to toxic megacolon [9]. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Rare Form of Hirschprung’s Disease

Skalskis¹

2020

Health Sciences

View full text Add to dashboard Cite

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

show abstract

Section: Discussionmentioning

confidence: 99%

Case Report: Rare Form of Hirschprung’s Disease

Skalskis¹

2020

Health Sciences

View full text Add to dashboard Cite

show abstract

“…These type of tumours are very rare they comprise only 5% of neoplasms and are seen in 0.4-2.6 for every 100,000 cases around the world, the mucoepidermoid tumour affects parotid and minor salivary glans in adults and is mostly seen in women and Young adults, most tof the cases arise in the the parotid gland with this ccase accounting for only 2-4% of the cases because it was seen in the submandibular gland, this patient is currently under treatment he was performed two sugeries for removal of ganglions locanated in neck and in the submandbullary gland, highes prevalence for this type of tumour is around the fifth decade of life and they can be asymptomatic like in this case with the patient having few to no symptoms. It has a puripotent cell origin and as we mention can be classidief into three stages [3].…”

Section: Discussionmentioning

confidence: 99%

“…Hirschsprung's Disease (HD), also known as Congenital Megacolon, was described by Harold Hirschsprung in 1888 as a congenital disorder in a newborn with severe constipation associated with colon dilation and hypertrophy. [1][2][3] This disease has an embryonic origin between the 5th and 12th week of pregnancy. During this period, the undifferentiated cells of the vagal and lumbosacral neural crest migrate to the gastrointestinal tract to form the submucosal myenteric plexuses, with the need to multiply, survive and complete their differentiation.…”

Section: Introductionmentioning

confidence: 99%

Hirschsprung's disease: case report

Cembraneli

Cavalcante²

2020

JUSEM

View full text Add to dashboard Cite

Introduction: Hirschsprung's Disease (DH), also known as Congenital Megacolon, has been described as a congenital disorder in Newborns (NB) with severe constipation associated with dilatation and hypertrophy of the colon. To elucidate the diagnosis, it is necessary to perform complementary tests, but the gold standard is rectal biopsy. The treatment is always surgical, aiming at the removal of the aganglionic part and the restoration of the continuity of the intestine. Thus, we chose to report a case of a 1-year and 10-monthold patient with chronic constipation from birth, who was diagnosed with DH, requiring surgical intervention. Case report: A 29 days of life male patient comes with a complaint that he has been evacuating in small quantities since birth, with feces that look yellowish, pasty and with a characteristic odor, intercalating with periods of constipation. Mother reports that the RN remained for up to a week without evacuating from birth. With the DH hypothesis, an x-ray of the abdomen, an opaque enema, and a rectal biopsy were performed confirming the hypothesis. We opted for surgical treatment where initially a colostomy was performed on a loop and then a rectosigmoidectomy with colon retraction. Discussion: HD is a congenital anomaly that affects 1 in 5,000 live births. It is characterized by the absence of ganglion cells, and 80 to 90% of the cases are diagnosed in the neonatal period. The delay between the onset of clinical manifestations and the investigation of the disease increases the risk of complications, with more frequent enterocolitis, in addition to increasing the morbimortality of the congenital megacolon. Conclusion: With the present study, we aimed to emphasize the need to alert the pediatrician to a better understanding of the clinical picture of HD, as well as its complications and the importance of performing the diagnosis early

show abstract

“…Regarding the length of the aganglionic region, Hirschsprung’s disease can be classified into three groups: total colonic aganglionosis (TCA), short-segment aganglionosis, and long-segment aganglionosis [ 2 ]. TCA is very rare and accounts for about 5% of all HD cases (predominantly men) and can be seen in 1:50,000 live births [ 3 ]. HD can clinically manifest within a few days after birth, with meconium ileus, bilious vomiting, and distended abdomen [ 4 ], while encopresis, hypoproteinemia, enterocolitis, and empty rectum on digital examination in conjunction with poor weight gain can also occur [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Rare presentation and retrograde diagnosis of total colonic aganglionosis in a female infant: a case report

Chakhunashvili

Chakhunashvili²,

Kvirkvelia³

et al. 2023

J Med Case Reports

View full text Add to dashboard Cite

Background Total colonic aganglionosis is an extremely rare variant of Hirschsprung’s disease, which is predominant in males and can be seen in 1:50,000 live births. The presented case not only depicts a rare case, but also unusual clinical, laboratory, and instrumental data. Case presentation A 2-day-old Caucasian female newborn was transferred to our hospital from maternity. The initial presentation was reverse peristalsis, abdominal distention, and inability to pass stool. Fever had started before the patient was transferred. Hirschsprung’s disease was suspected, and tests such as contrast enema and rectal suction biopsy were done. Before enterostomy, the management of the disease included fluid resuscitation, colonic irrigation, antibiotic administration, enteral feeding, and supportive therapy. During ileostomy operation, no transition zone was visualized and full-thickness biopsy samples were retrieved from the rectum and descending colon. After surgical intervention, status significantly improved—defervescence and weight gain most importantly improved. Conclusion It is well known that diagnosis of total colonic aganglionosis may be delayed for months or even years since the transition zone may not be visible and rectal suction biopsy, unlike full-thickness biopsy, is not always reliable. It might be more prudent not to be derailed because of negative radiography and rectal suction biopsy. Also, doctors should be more suspicious of the disease if signs and symptoms are starting to be consistent with Hirschsprung-associated enterocolitis, despite biopsy and radiology results.

show abstract

Atypical onset of total colonic Hirschsprung disease in a small female infant

Cited by 4 publications

References 28 publications

Case Report: Rare Form of Hirschprung’s Disease

Case Report: Rare Form of Hirschprung’s Disease

Hirschsprung's disease: case report

Rare presentation and retrograde diagnosis of total colonic aganglionosis in a female infant: a case report

Contact Info

Product

Resources

About