PRESENTACIN DEL CASO

Un hombre de 36 aos de edad fue admitido en el hospital debido a dolor en el cuadrante inferior
derecho del abdomen y la regin lumbar.
Haba un nio de dos aos de historia de dolor intermitente en el cuadrante inferior derecho y
regin lumbar derecha, con "dolor" del testculo derecho, que se produjo con frecuencia durante la
miccin y con menos frecuencia en la defecacin. Veintisis meses antes de la admisin de una
evaluacin llev a otra parte para un diagnstico de la prostatitis, pero la terapia antibitica fue
ineficaz.
Cinco meses antes de su ingreso el paciente vino a este hospital. Inform que su hermano padeca
hemocromatosis. La exploracin fsica fue normal excepto por la ternura en el cuadrante inferior
derecho. La capacidad de fijacin del hierro fue casi totalmente saturado, y el nivel de ferritina fue
747 g por litro. El examen microscpico de una muestra en forma de aguja de biopsia del hgado
mostr moderada deposicin del parnquima periportal de hierro sin fibrosis, inflamacin u otras
anomalas. Un anlisis qumico revel 13.378 g de hierro por gramo de tejido heptico (valor
normal, 530). Se hicieron arreglos para flebotomas.
Un trnsito intestinal-a travs del estudio se realiz tres meses antes de la admisin. El yeyuno y el
leon parecan normales con la excepcin de los ltimos 4 cm, que carecan de los contornos de la
mucosa normal. La porcin distal del leon terminal se separ de las asas intestinales
adyacentes. El material de contraste fluye a travs de esa regin en el ciego, pero el ciego
apareci incompleta distendido. El apndice no fue visto.
Diez semanas antes de la admisin de una colonoscopia, lleva a cabo de 10 a 15 cm en el leon
terminal, puesto de manifiesto un aspecto granular de los distales 2 o 3 cm de leon terminal, con
unos pocos, ndulos submucosos blancas pequeas dentro de la porcin 5-cm proximal a el leon
terminal. El intestino ciego fue eritematosa, con edema, erosiones superficiales, y gruesos pliegues
interhaustrales romos, sobre la base del ciego alrededor del apndice. El resto del colon pareca
normal. El examen microscpico de las muestras de biopsia del intestino delgado revel edema y
la infiltracin eosinoflica focal. El examen de una muestra de biopsia-cecales de la zona
apendicular mostr inflamacin aguda y crnica marcada consistente con ulceracin y tejido de
granulacin, sin granulomas. Un examen ultrasonogrfico del abdomen mostr un apndice
hipoecoica ampliada (1,2 cm de dimetro). Dos reas hiperecognicas focales con posterior
sombreado en el apndice se interpretaron como apendicolitos. El hgado, el conducto heptico
comn, la vescula biliar, el pncreas, los riones y el bazo parecan normales. Una tomografa
computarizada (TC) del abdomen y la pelvis
obtenida despus de la administracin oral de material de contraste, se describe una estructura de
tejido blando tubular que se extiende medialmente desde el ciego detrs del leon terminal. La
estructura fue rodeado por cambios inflamatorios en el mesenterio. No linfadenopata fue visto, y el
resto de la exploracin fue normal. El paciente fue ingresado en el hospital.
El paciente no fumaba y consuma poco alcohol. Sus funciones intestinales normales. Su padre fue
informado de que la enfermedad inflamatoria intestinal.
La temperatura era de 37,4 C, el pulso era de 100, y la frecuencia respiratoria de 16. La presin
arterial era de 145/75 mm Hg.
La exploracin fsica fue normal excepto por dolor leve en el cuadrante inferior derecho del
abdomen, sin la vigilancia o la ternura de rebote. Los ruidos intestinales eran normales, al igual que
los genitales.
La orina era normal. El hematocrito era de 39,6 por ciento, el recuento de glbulos blancos era de
5000 por milmetro cbico, y el recuento de plaquetas era de 192.000 por milmetro cbico. El
volumen corpuscular media fue de 96 m 3 . Los tiempos de protrombina y de tromboplastina parcial
fueron normales, al igual que el nitrgeno de la urea, la creatinina y las concentraciones de
electrolitos. Un electrocardiograma mostr bradicardia sinusal a una velocidad de 58 y estaba
dentro de los lmites normales. Una radiografa de trax fue normal.
Se llev a cabo un procedimiento diagnstico.
PRESENTATION OF CASE
A 36-year-old man was admitted to the hospital because of pain in the right lower quadrant of the
abdomen and the lumbar region.
There was a two-year history of intermittent pain in the right lower quadrant and right lumbar region, with
soreness of the right testis, which occurred frequently during urination and less often on defecation.
Twenty-six months before admission an evaluation elsewhere led to a diagnosis of prostatitis, but
antibiotic therapy was ineffective.
Five months before admission the patient came to this hospital. He reported that his brother had
hemochromatosis. The physical examination was normal except for tenderness in the right lower
quadrant. The iron-binding capacity was almost totally saturated, and the ferritin level was 747 g per
liter. Microscopical examination of a needle-biopsy specimen of the liver showed moderate periportal
parenchymal deposition of iron without fibrosis, inflammation, or other abnormalities. A chemical analysis
revealed 13,378 g of iron per gram of liver tissue (normal value, 530). Arrangements were made for
phlebotomies.
A small-bowel follow-through study

(Figure 1FIGURE 1 Film from the Small-Bowel Follow-through

Examination.)

was performed three months before admission. The jejunum and ileum appeared normal with the
exception of the final 4 cm, which lacked the contours of normal mucosa. The distal portion of the
terminal ileum was separated from adjacent bowel loops. Contrast material flowed through that region
into the cecum, but the cecum appeared incompletely distended. The appendix was not seen.
Ten weeks before admission a colonoscopic examination, performed 10 to 15 cm into the terminal ileum,
revealed a granular appearance of the distal 2 or 3 cm of the terminal ileum, with a few small, white
submucosal nodules within the 5-cm portion proximal to the terminal ileum. The cecum was
erythematous, with edema, superficial erosions, and thick, blunted interhaustral folds about the base of
the cecum around the appendix. The remainder of the colon appeared normal. Microscopical
examination of biopsy specimens of the small bowel disclosed edema and focal eosinophilic infiltration.
Examination of a cecal-biopsy specimen from the appendiceal area showed marked acute and chronic
inflammation consistent with ulceration and granulation tissue, without granulomas. An ultrasonographic
examination of the abdomen

(Figure 2FIGURE 2 Compression Ultrasonogram Showing a

Noncompressible Appendix in Cross-Section.) showed an enlarged hypoechoic appendix (1.2 cm in
diameter). Two focal hyperechogenic areas with posterior shadowing within the appendix were
interpreted as appendicoliths. The liver, common hepatic duct, gallbladder, pancreas, kidneys, and
spleen appeared normal. A computed tomographic (CT) scan of the abdomen and pelvis

Figure 3FIGURE 3 CT Scan Showing a

Thickened Appendix (Arrows) Extending Medially from the Cecum, with Streaking in the Surrounding
Mesenteric Fat Consistent with Inflammation.), obtained after the oral administration of contrast material,
disclosed a tubular soft-tissue structure that extended medially from the cecum behind the terminal
ileum. The structure was surrounded by inflammatory changes in the mesentery. No lymphadenopathy
was seen, and the remainder of the examination was normal. The patient was admitted to the hospital.
The patient did not smoke and consumed little alcohol. His bowel functions were normal. His father was
reported to have inflammatory bowel disease.
The temperature was 37.4C, the pulse was 100, and the respirations were 16. The blood pressure was
145/75 mm Hg.
The physical examination was normal except for mild tenderness in the right lower quadrant of the
abdomen, without guarding or rebound tenderness. The bowel sounds were normal, as were the
genitalia.
The urine was normal. The hematocrit was 39.6 percent, the white-cell count was 5000 per cubic
millimeter, and the platelet count was 192,000 per cubic millimeter. The mean corpuscular volume was
96 m3. The prothrombin and partial-thromboplastin times were normal, as were the urea nitrogen,
creatinine, and electrolyte concentrations. An electrocardiogram showed a sinus bradycardia at a rate of
58 and was within normal limits. A radiograph of the chest was normal.
A diagnostic procedure was performed.

DIFFERENTIAL DIAGNOSIS
Dr. Leslie W. Ottinger*: This otherwise healthy 36-year-old man had experienced pain in the right lower
quadrant for two years. The sparse additional history includes intermittent pain in the right testis, a
diagnosis of hemochromatosis documented by several tests, apparently normal bowel function
throughout the illness, and a family history of hemochromatosis and inflammatory bowel disease. There
is no information about the nature of the pain at its onset, its frequency, its radiation, or whether anything
provoked or relieved it, and except for the pain, there is no mention of intestinal symptoms, even at the
onset of the illness. May we review the radiologic studies?
Dr. Michelle M. McNicholas: The small-bowel follow-through examination (Figure 1), which was
performed three months before admission, shows the separation of the distal terminal ileum from the
cecum, which did not distend completely. A compression spot view shows normal-appearing mucosa in
the terminal ileum with incomplete filling of the cecum, which is separated from the terminal ileum. These
findings are suggestive of a mass between the cecum and the terminal ileum, probably related to the
appendix, which was not filled on this examination. The CT scan obtained just before admission (Figure
3) shows a slight thickening of the posterior wall of the cecum, a normal-appearing terminal ileum, and a
tubular soft-tissue density extending medially from the cecum, corresponding to an enlarged appendix.
There is stranding in the periappendiceal fat. These findings are consistent with appendicitis. The
compression ultrasonogram of the right lower quadrant (Figure 2) confirms the enlargement of the
appendix, which appears as a tubular structure. It was 1.2 cm in diameter and noncompressible
features that are characteristic of appendicitis. Two echogenic foci within the lumen show posterior
acoustic shadowing suggestive of appendicoliths. Appendicoliths were not visible on the plain film but
appeared as areas of slightly increased density on the CT scan. The radiologic findings suggested
appendicitis, probably with appendicoliths and surrounding inflammation.
Dr. Ottinger: The basic question in this case is whether the patient had an inflammatory or infiltrative
process involving primarily the terminal ileum and cecum, with obstruction and secondary changes in the
appendix, or an appendiceal lesion, with secondary changes in the terminal ileum and tip of the cecum.
The results of the upper gastrointestinal series and small-bowel follow-through study are consistent with
either interpretation. The endoscopic findings suggest a primary process in the mucosa of the terminal
ileum and the cecum, but the findings on the CT scan and ultrasonogram point to the appendix as the
primary site of the disease.
If the disease was a chronic process originating in the terminal ileum and cecum, it could have been an
infection, such as yersiniosis, amebiasis, tuberculosis, or giardiasis, or even a typhoid infection. Although
the relative absence of systemic and gastrointestinal symptoms is not consistent with any of those
diagnoses, they merit brief consideration. Yersiniosis is the most likely infection in a patient with no
history suggesting travel outside New England. Yersinia infections are caused by either the enterocolitica
strain or the pseudotuberculosis strain. They are usually transmitted by a fecaloral route and less often
by contaminated food or water. The possibility of yersinia infection in this patient is particularly
interesting. Yersinia strains are unable to absorb iron directly, not having the protein necessary to
conjugate it, and are thus dependent on other bacteria or a host as their source of iron.1 Patients who
have an excess of iron or hemochromatosis are said to be subject to rampant yersinia infections.
Yersiniosis usually presents with acute gastroenteritis. I have seen patients in whom the infection
persisted in a low-grade form in the cecum and terminal ileum for a long time. Yersinia infection is
therefore a possible diagnosis in this case. Inflammatory bowel disease and a tumor, particularly a
lymphoma, involving the terminal ileum and cecum are additional considerations, but there is nothing to
support these diagnoses.
An appendiceal disease with secondary inflammation in the ileum and cecum is the alternative
possibility. The patient had a two-year history of a disease without systemic or gastrointestinal
manifestations, and there were no acute symptoms or signs suggesting acute appendicitis or an acute
exacerbation of chronic appendicitis. Chronic obstruction of the appendix must also be considered. The
patient was thought to have two appendicoliths. Appendicoliths almost always occur singly, and when
they are associated with appendiceal disease, it is usually acute appendicitis.
Could a tumor have involved the appendix? A mucinous cystadenoma or cystadenocarcinoma would be
the most likely possibility in this case. Mucinous cystadenomas, often called mucoceles in the past, are
sometimes associated with myxoglobulosis, a mucocele with multiple calcified spheres in the
appendiceal lumen. The ultrasonographic findings in this case are not consistent with the presence of
calcified spheres. A mucinous tumor of the appendix may be complicated by local perforation or
periappendiceal inflammation. However, mucoceles are usually characterized by a much larger
accumulation of mucin within the appendiceal lumen. The imaging studies in this case suggest that the
appendiceal enlargement was due to a thickening of the wall rather than an intraluminal accumulation of
fluid.
Another possibility is chronic appendicitis, which is probably caused by recurrent appendicitis, but there
is no evidence of recurrence in this case. Other chronic, low-grade processes involving the wall of the
appendix, such as isolated diverticulitis and regional enteritis, should be considered, but there is also no
evidence to support these diagnoses.
In conclusion, the most logical diagnosis in this case is a disease with an indolent course that accounts
for the periappendiceal inflammation, with impairment of lymphatic drainage of the testis, resulting in
testicular pain. I favor the diagnosis of a mucinous tumor of the appendix, even though there are few
data to support it.
Dr. Fiona M. Graeme-Cook: Dr. Schapiro, what was your clinical impression when you saw this patient?
Dr. Robert H. Schapiro: He was referred to me for a liver biopsy because of the history of
hemochromatosis. He told me incidentally about the episodes of abdominal discomfort. The most striking
aspect of the colonoscopic examination was the abrupt demarcation between the area of inflammation
that surrounded the appendiceal orifice for 2 or 3 cm and the rest of the cecum. On the basis of these
observations, I suspected that the patient had Crohn's disease of the base of the cecum and the
appendix.