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i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
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Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
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Presentation1, radiological imaging of hirshsprung disease.
1. Dr/ ABD ALLAH NAZEER. MD.
Radiological imaging of Hirschsprung disease.
2. Hirschsprung disease is the most common cause of neonatal colonic
obstruction (15-20%). It is commonly characterized by a short segment of
colonic aganglionosis affecting term neonates, especially boys.
Epidemiology
Hirschsprung disease affects approximately 1:5000-8000 live births. In
short segment disease, there is a significant predilection for males (M:F
of ~3.5:1), which reduces with increasing length of involvement.
Interestingly, it is almost never seen in premature infants.
Clinical presentation
The condition typically presents in term neonates with failure to pass
meconium in the first 1-2 days after birth, although later presentation is
also common. Overall ~75% of cases present within six weeks of birth, and
over 90% of cases present within the first five years of life. A very small
number may present in the adult population.
In cases of delayed presentation with anorectal constipation, manometry
may be useful in distinguishing short/ultra short segment Hirschsprung
disease from other causes.
A definitive diagnosis requires a full thickness rectal biopsy.
3. Pathology
Hirschsprung disease is characterized by aganglionosis (absence of ganglion cells) in
the distal colon and rectum. It is thought to either occur from a failure of neuroblasts
in neural crest cells to migrate into bowel segments or degeneration of already
migrated neuroblasts. It affects cells both in the myenteric and submucosal plexuses.
Hence, functional obstruction develops as a result of a spasm in the denervated colon.
It can be anatomically divided into four types according to the length of the
aganglionic segment:
short segment disease: ~75% *
rectal and distal sigmoid colonic involvement only
long segment: ~15%
typically extends to splenic flexure / transverse colon
total colonic aganglionosis: ~7.5% (range 2-13%)
also known as Zuezler-Wilson syndrome
occasional extension of aganglionosis into the small bowel
ultrashort segment disease
3-4 cm of internal anal sphincter only
controversial entity
see notes on percentages
It is postulated that hypoganglionosis (reduced number of ganglion cells) handles
intestinal pseudo-obstruction.
4. Associations
Although Hirschsprung is an isolated abnormality in 70% of
cases, there are some well-documented associations, including:
Down syndrome: in ~10% of Hirschsprung cases
neurocristopathy syndromes
Waardenburg-Shah syndrome
Haddad syndrome
MEN IIa
neuroblastoma
other non-neurocristopathy syndromes
Aarskog syndrome
Bardet-Biedl syndrome
Fryns syndrome
Pallister-Hall syndrome
Smith-Lemli-Opitz syndrome
5. Hirschsprung Disease Symptoms:
Eighty percent of children with Hirschsprung disease show symptoms in
the first 6 weeks of life. Infants suffering from the disease usually become
symptomatic during the first 24 to 48 hours of life. However, children with
only a short segment of intestine that lacks normal nerve cells may not
show symptoms for several months or even years. While individuals
experience a range of symptoms, the following are the most common:
Not having a bowel movement in the first 48 hours of life
Gradual marked swelling of the abdomen
Gradual onset of vomiting
Fever
Children who do not have early symptoms may present with the
following:
Sepsis (overwhelming infection)
Constipation that worsens over time
Small, watery stool
Loss of appetite
Delayed growth
6. Hirschsprung disease diagnosis:
Careful physical examination is required, and physical findings are dependent upon the
age at presentation and the severity of the condition. Establishing the diagnosis also
includes undergoing a number of diagnostic studies. These include the following:
Abdominal X-ray. This may indicate a bowel blockage. This study only allows physicians
to suspect the diagnosis, not definitively diagnose it.
Contrast enema. This is a procedure performed to examine the large intestine (colon)
for abnormalities. A contrast agent is given into the rectum in order to coat the inside of
organs so that they will show up on an X-ray. This is the most valuable radiologic study
for establishing the diagnosis.
An X-ray of the abdomen will show a narrowed colon, obstruction and dilated
(exceptionally enlarged) intestine above the obstruction.
Rectal biopsy. This procedure will establish the diagnosis of Hirschsprung disease.
A sample of the cells in the rectum is taken and then looked at under a microscope.
Confirmation of Hirschsprung is based on the absence of ganglion cells and the presence
of nonmyelinated nerves in the biopsy segment.
In infants, a suction rectal biopsy can be done at the bedside. Since there are no sensory
nerves at the site of biopsy, this is not painful. When a suction biopsy is inconclusive,
surgical biopsy is performed under general anesthesia in the operating room.
Anorectal manometry. This determines whether normal reflexes involving the rectum
and the anus are present. Used only in older children, the test can be performed at the
bedside.
7. Radiography
Radiographs of the neonatal abdomen with
Hirschsprung disease (HD) may show multiple
loops of dilated small bowel with air-fluid levels
that can usually be determined to be a distal
bowel obstruction. An empty rectum is a common
finding. The classic image is a dilated proximal
colon with the aganglionic cone narrowing
towards the distal gut. A cutoff sign in the
rectosigmoid region with an absence of air
distally is a useful finding in Hirschsprung-
associated enterocolitis (HAEC).
8. Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the small bowel with no gas in the rectum.
9. Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the bowel
with no gas in the rectum. In the sitting position, air-fluid levels in the large bowel are seen.
10. Hirschsprung disease. Lateral abdominal radiograph shows a very
enlarged, stool-filled sigmoid. No air or stool content is seen in the rectum.
12. Hirschsprung disease. Lateral view from a barium enema examination
depicting the reduced diameter of the rectum and sigmoid.
13. Hirschsprung disease. Barium enema showing reduced caliber of the
rectum, followed by a transition zone to an enlarged-caliber sigmoid.
Hirschsprung disease. Barium enema showing reduced caliber of the
rectum, followed by a transition zone to an enlarged-caliber sigmoid.
15. Hirschsprung disease. Barium enema showing reduced caliber and length of
the large bowel, with no clear transition zone (total colonic aganglionosis).
17. Hirschsprung disease in an infant. Frontal radiograph demonstrates the diameter of the
rectum (arrows) to be smaller than the diameter of the sigmoid colon, an abnormal
rectosigmoid ratio. Note the saw tooth appearance of the abnormal contracted segment.
18. Hirschsprung Films A, B and C are plain abdominal x-rays. Films D, E and F are x-rays with a barium enema.
20. Short narrowed segment indicated between the yellow dotted lines; TZ = transition zone
yellow arrows indicate the small bowel (jejunal) pattern to the descending colon
21. Hirschsprung disease in a newborn with
abdominal distention and failure to pass
meconium. A, Radiograph shows dilatation of
multiple loops of bowel, consistent with a
distal obstruction. B, Early filling lateral view
from contrast enema shows abnormal
rectosigmoid ratio with
rectum (arrowheads) much more narrow than
sigmoid colon (arrows). C, Frontal view from
contrast enema shows rectum to be narrow in
caliber and corkscrew in appearance due to
spasm. The sigmoid colon (S) is dilated
compared to the rectum (arrows).
22. Hirschsprung Disease. A. A characteristic transition zone (arrows) is seen between the dilated, feces-filled colon above and the relatively
narrowed rectum below. B. The rectum in this newborn infant is smaller than the sigmoid and descending colon, but a well-defined transition
zone is not present. C. A contrast enema in another infant shows spasm and irregularity of the aganglionic segment (arrow). D. A different
infant with a shorter aganglionic segment (arrows) showing a mild corrugated pattern and a well-defined transition zone.
24. Total colonic Hirschsprung disease. The entire colon is small in caliber
(arrowheads). The histologic transition zone was in the distal ileum.
25. Although CT is considered a common imaging modality for excluding other
diseases such as colorectal cancer, which also causes chronic constipation in
adults, to our knowledge, there have been no reports regarding the CT findings
of adult HD and adult HG in the radiology literature. CT depicted the correct
transition zone in nine patients with HG or HD, and the depicted transition zones
were consistent with the histopathologic results. The transition zone was located
in the rectum or rectosigmoid junction in all of the patients with HD. In addition,
the transition zone in the patients with HG corresponded to the histopathologic
results when it was considered to be in the segment with the least number of
ganglion cells, as HG was distributed throughout the entire colon in four patients.
These findings show that HG exhibits compensatory contraction like HD, even
though, to our knowledge, this fact has not been mentioned in previous reports.
There was a discrepancy between the transition zone site seen at histopathologic
analysis and that seen at CT in one patient. The transition zone was in the distal
transverse colon at histopathologic analysis but in the proximal descending colon
at CT. This discrepancy was probably due to the redundancy of transverse and/or
descending colon. A redundant colon depicted at transverse CT can make accurate
localization of the transition zone difficult. Apparently, there seemed to be a short
distance between the two transition zone sites. Also, the histopathologic type of
combined HD and HG might have played a role in the discrepancy in transition
zone sites.
26. (a) Anteroposterior double-contrast barium enema radiograph (overhead view) shows mildly
narrowed rectum and rectosigmoid junction (arrows) with dilated sigmoid colon (SC). AC =
ascending colon, DC = descending colon. (b) Resected whole-colon specimen shows dilated
sigmoid colon and non dilated ascending colon, transverse colon (TC), and descending colon.
27. HD with aganglionic segment of upper part of rectum in 19-year-old man. (a, b) Double-contrast barium enema radiographs (overhead and
anteroposterior spot views) show a markedly dilated upper part of rectum and rectosigmoid junction with fecaloma (arrows). AC = ascending
colon, DC = descending colon. Other colonic segments have normal diameters. (c, d) Contrast material–enhanced transverse CT scans show markedly
dilated feces-filled proximal upper part of rectum and the rectosigmoid junction (arrows in c) with a transition zone and a distal narrowed rectum
(arrows in d). The distal rectum also appears to have a thickened wall. The transition zone ratio is measured as the axial diameter at the most dilated
proximal colonic segment (arrows in c) divided by the axial diameter at the narrowest distal part of the rectum (arrows in d).
28. Double-contrast barium enema radiographs (a, anteroposterior; b, oblique anteroposterior views) obtained in
64-year-old woman who has HD with aganglionic segment of rectosigmoid junction show markedly dilated
distal sigmoid colon and rectosigmoid junction (arrowheads) and a narrowed rectum (arrows).
29. 3a: Contrast-enhanced transverse CT scans (a obtained at lower level than b) obtained in 31-year-old woman with
HG of entire colon show markedly dilated feces-filled ascending colon (AC) and transverse colon (arrowheads)
compared with a nondilated descending colon (DC) with a transition zone of the proximal descending colon (*).