10-month-old Patient With Severe Abdominal

Distention and Lethargy

Background
The parents of a 10-month-old boy rush him to the emergency department (ED) in the middle of
the night due to recent lethargy and severe abdominal distention. Prenatal ultrasonography
findings were normal; he was born at 36 weeks' gestation via uncomplicated vaginal delivery,
weighed 5.73 lb (2.6 kg), and was discharged home with his parents.
During the infant's first 3 months of life, he fed and grew properly, with normal development.
Six weeks before the current episode, he developed sudden abdominal distention and decreased
oral intake, with occasional postprandial vomiting of gastric contents, with no other major
symptoms. Plain radiography revealed a large opacity on the right side of the abdomen (Figure
1). Doppler ultrasonography revealed a large, nonvascularized cystic mass on the undersurface of
the liver (Figure 2). CT and MRI confirmed the presence of a large, septated, cystic mass under
the liver, displacing the ascending colon downward (Figures 3-5).

Figure 1. Figure 2

Figure 3. Figure 4.
Figure 5.

The patient's serum alpha-fetoprotein (AFP) level was 900 ng/mL. The rest of the blood work,
including liver function, was normal. At the initial institution, abdominal lymphatic
malformation was diagnosed, and the patient underwent fluoroscopy-guided percutaneous
sclerosis of the lesion with doxycycline (Figure 6).

Figure 6.
Staples were used to fix the cyst to the abdominal wall in order to avoid drug leakage into the
peritoneum. The patient was discharged home the next morning in good condition. After 3
weeks, abdominal distention and hyporexia persisted, and he was started on sildenafil (0.5
mg/kg/day) in an attempt to accelerate the clinical response. Two days later, the boy suddenly
became unresponsive, flaccid, and pale, which is when his parents rushed him to the ED.

Physical Examination and Workup

Upon arrival to the hospital, the child looks extremely ill. He is immediately admitted to the ED
shock room. He is very pale, flaccid, and unresponsive. The anterior fontanel is depressed, and
his skin and mucous membranes are dry. Peripheral pulses (extremities) are not felt, but his
carotid and femoral pulses are weak, with evident tachysphygmia. His heart rate is 210
beats/min, his respiratory rate is 45 breaths/min, his blood pressure is 50/40 mm Hg, and his
temperature is 96.4°F (35.8°C).
The patient's abdomen is grossly distended, tense, and discolored. Bowel sounds cannot be
heard. His alert status does not allow evaluation for rebound tenderness. Capillary refill time is 5
seconds. He becomes unconscious and is intubated and placed on a ventilator. Vascular access is
achieved on the left femoral vein, and an intravenous bolus of Ringer solution (10 mL/kg) is
given. An arterial line is placed on the femoral artery, and blood gas analysis reveals severe
metabolic acidosis with elevated lactate level.
Blood tests reveal a hemoglobin level of 6 g/dL, leukocytosis of 14,000 cells/µL, neutrophilia of
73%, and platelet count of 60,000 cells/μL. Electrolyte analysis
demonstrates hyperkalemia (potassium level, 5.9 mEq/L). The patient's blood pressure does not
improve after the initial fluid bolus, and he is given a second one. Paracentesis reveals
bloodstained free fluid.

Discussion
The patient in this case presented with a ruptured hepatic tumor. Other diagnoses were ruled out,
as follows:
A choledochal cyst is a congenital anomaly of the biliary tract, characterized by bile duct
dilatation, involving the extra- and/or intrahepatic biliary radicles. Most cases are discovered at
infancy, and it is more common in females (female-to-male ratio, 3:1-4:1). The classic clinical
triad includes abdominal pain, jaundice, and a palpable right upper-quadrant abdominal mass.
Patients might develop pancreatitis, cholangitis, and hepatocellular damage. These patients
usually present with abnormal liver function test results, including an obstructive pattern with
elevated hepatocellular enzyme, amylase, and lipase levels.[1,2] The patient in this case did not
show any signs of pancreatitis or cholangitis, he was not jaundiced, and his liver function test
results were normal.
Portal hypertension is a major complication of chronic liver disease. It results from increased
vascular resistance and/or blood flow into the hepatic sinusoids, leading to a portal pressure
gradient of 12 mm Hg or greater (normal pressure is 7-10 mm Hg). As a consequence, collateral
vessels are formed, developing esophageal or gastric varices and hemorrhoids.
Portal hypertension is caused by a wide variety of conditions. The most common prehepatic
cause of portal vein obstruction in children is thrombosis due to umbilical vein
catheterization, omphalitis, or sepsis. Some intrahepatic causes include congenital hepatic
fibrosis, cirrhosis due to primary liver disease or biliary atresia, and veno-occlusive hepatic
disease, which may occur in children after hematopoietic stem cell transplantation. The main
clinical manifestations are gastrointestinal hemorrhage, splenomegaly, and ascites. The condition
is often clinically silent, but an important clue to its presence is an abnormal abdominal venous
pattern (caput medusa). The patient in this case did not have chronic liver disease, nor any
clinical sign that suggested portal hypertension.
Vascular malformations are errors of vasculogenesis that occur at 4-7 weeks' gestation. They
may involve a single type of vessel (eg, arterial, venous, capillary, lymphatic) or may be of
mixed variety. They are classified by the predominant channel type and resultant rheologic
character (fast versus slow flow).[5,6,7] The patient in this case was initially misdiagnosed as
having an abdominal vascular malformation, on the basis of the cystic appearance of the lesion
on imaging studies. However, a pure lymphatic malformation would not cause hemoperitoneum
and shock. Sildenafil has been used with some success in certain lymphatic malformations. This
child´s presentation could not be attributed to the drug.
Malignant hemoperitoneum is the presence of blood in the peritoneal cavity owing to a ruptured
abdominal tumor. Acute abdomen is rare, occurring in less than 5% of patients. The diagnosis
should be considered in patients with large abdominal masses, who develop
distention, abdominal compartment syndrome, hypotension, decreased urine output, or anemia.
Abdominal tumors may spontaneously rupture owing to fast enlargement and necrosis or
capsular infiltration. They may also rupture owing to chemotherapy-induced necrosis. The
patient in this case did not have a history of abdominal cancer, nor had he received
chemotherapy. The AFP level was certainly above the expected for age. However, malignant
hepatic tumors, which in this age group are mostly hepatoblastomas, tend to elevate AFP levels
much higher.

Mesenchymal hamartoma of the liver is the second most common benign hepatic tumor in
children after hemangiomas, accounting for 8% of all liver masses in this age group. The most
common presentation is a palpable, nontender abdominal mass in an otherwise healthy-looking
child, usually younger than 2 years, with an average age of 15 months. However, larger tumors
can become symptomatic and cause vena cava obstruction, feeding difficulties, or respiratory
distress. Mesenchymal hamartomas of the liver are most common in the right lobe (75%) and
have a slight male predominance, with a 3:2 male-to-female ratio. Their size ranges from tiny
lesions to large tumors, sometimes up to 30 cm. The mass is usually encapsulated.

Although some children present with mild AFP elevation, serum markers and liver function tests
are unrevealing in most cases. High AFP levels return to normal after resection.

The etiology of mesenchymal hamartomas of the liver is not fully understood; however, different
theories have been proposed. Developmental defects, regional ischemia, or biliary obstruction,
are considered possible causes. An association with chromosomal anomalies has been linked to
its pathogenesis, at the 19q13.4 region. Although spontaneous regressions do occur, malignant
transformation into undifferentiated or embryonal sarcoma of the liver has been also been
reported, also involving the 19q13 chromosomal region. Thus, primary complete surgical
excision is considered the preferred treatment option.

Histologically, mesenchymal hamartomas are heterogeneous lesions lined by bile duct

epithelium, within either a dominant cyst or as a multicystic lesion. The cysts do not contain
normal bile, nor do they communicate with the biliary tree.[18] Differential diagnoses for
mesenchymal hamartomas include hepatoblastomas, infantile hemangioendothelioma, and
embryonal sarcoma of the liver.

Hepatoblastoma is the most common primary malignant liver tumor in children. It occurs most
frequently during the first year of life, and the AFP level is elevated in most patients. By image,
it is described as a well-circumscribed mass, slightly hypoattenuating to the adjacent liver.
Calcifications and hemorrhage are also common findings.

Infantile hemangioendothelioma is a benign but aggressive liver tumor that can occur in children
younger than 6 months. Most are asymptomatic and incidentally discovered during abdominal
imaging. They appear as a solid, highly vascularized, large, solitary or multifocal mass. When
large enough, they may cause congestive heart failure (CHF), and severe thrombocytopenia
(Kasabach-Merritt syndrome).

Embryonal sarcoma of the liver is a rare malignant hepatic tumor of childhood. It is an

aggressive neoplasm of mesenchymal origin that is associated with an unfavorable prognosis.
Typical presentation is individuals aged 8-18 years; a liver mass is accompanied by nausea,
vomiting, jaundice, fever, and weight loss. The AFP level is not usually elevated. On imaging
studies, they appear as a mixed solid and multiseptated cystic mass.

For all liver tumors, initial imaging workup with ultrasonography confirms the location and
characterizes the consistency as cystic, solid, or mixed. CT and MRI further delineate location,
extent, and anatomy related to lesions or metastases. These modalities facilitate surgical planning
and may determine respectability.

Mesenchymal hamartoma of the liver is a benign infant tumor of variable size, more commonly
located in the right lobe and usually multicystic. Areas of cystic degeneration may cause rapid
progression by further fluid accumulation, which can lead to misdiagnosis as malignant.[13]
Patients typically present with progressive abdominal distention and a nontender, palpable mass
in the right upper quadrant. As tumor size increases, compression of surrounding structures may
cause pain, anorexia, vomiting, jaundice, ascites, bowel obstruction, respiratory distress, or CHF.
The tumors can be prenatally detected by ultrasonography. Large tumors may cause severe
hydrops, intestinal obstruction, or diaphragmatic elevation and risk for pulmonary hypoplasia.
Compression of the inferior vena cava and umbilical vein place the fetus at risk for premature
birth, CHF, and intrauterine death.

Although biochemical liver markers are generally normal, in patients with mesenchymal
hamartoma of the liver and elevated AFP levels at diagnosis, the marker becomes a helpful
postoperative follow-up tool. Imaging studies, such as ultrasonography, CT, and MRI, are useful
not only for the initial diagnosis but also for pre- and posttreatment evaluation and follow-up.
Ultrasonography is inexpensive and readily available; it displays important information about the
mass, including location, consistence, and vascularity. On ultrasonography, mesenchymal
hamartomas of the liver are seen as well-defined masses with cystic, solid, or mixed forms. Cysts
are anechoic, separated by thin or thick echogenic septa.

CT is used to confirm the diagnosis, clarify the segmental involvement, and determine the
tumor's relationship with vascular and surrounding structures, permitting optimal planning of the
surgical approach. Mesenchymal hamartomas of the liver are heterogeneous lesions on CT.
Stromal components appear hypo attenuated to the surrounding liver parenchyma, whereas cystic
components show water attenuation. Enhancement of the septa and stromal elements is observed
after administration of contrast.

Images of mesenchymal hamartomas of the liver at MRI vary. Cystic portions present with high
signal intensity on T2-weighted images but variable signal intensity on T1-weighted images,
depending on the protein content. Owing to fibrosis, solid portions may appear hypointense to
the adjacent liver parenchyma on both T1- and T2-weighted images.

Definitive diagnosis requires histologic confirmation. Fine-needle aspiration cytology may be

helpful in excluding differential diagnoses in selected patients. However, it requires aspiration of
adequate material and interpretation by an experienced pediatric cytopathologist. The specimen
demonstrates clusters of hepatocytes and normal bile duct epithelium, admixed with bland
mesenchymal or spindle-shaped cells in a myxoid background .In most reported cases,
mesenchymal hamartomas of the liver could not be diagnosed by this method[22]; thus, it is not
usually used for preoperative diagnosis. Rather, the specimen is studied after complete resection.
Histologically, mesenchymal hamartoma of the livers is described as an enlargement of
mesenchymal tissue, bile ducts, hepatic cords, and blood vessels within a liver mass, without
atypical mitosis. Cysts are formed by dilated bile ducts, lying in a myxoid stroma with
myofibroblast-like cells. Cords of normal hepatocytes stretch between the mesenchyme and the
proliferating bile ducts.

Complete surgical resection with free margins is considered the treatment of choice
for mesenchymal hamartomas of the liver, to avoid relapse and malignant transformation.
Anatomical resections following the segmental liver divisions are optimal. If the tumor is
considered unresectable, enucleation and marsupialization are surgical alternatives.
For large tumors in very young children in whom extended liver resection is indicated,
successful results have been recently reported with preoperative portal vein embolization. This
percutaneous procedure stimulates growth of the future liver remnant, with a success rate of
95%-100% in adults. Feasibility in infants requires expertise and appropriate-sized materials to
warrant safety.

Complete surgical resection offers an excellent prognosis and is curative in most cases. Mortality
is mostly related to surgical complications, such as hemorrhage, cardiac arrest, and pulmonary
problems, including acute respiratory distress syndrome. The latter has been reported to occur in
up to 11% of patients. For selected patients in whom resection is not feasible, decision of
observation warrants a very close follow-up, given the risk for malignant transformation.
After complete surgical resection, most patients are cured and recurrences are seldom seen. Two
or three follow-up CT scans are acceptable initially to identify early postoperative complications
and monitor liver regeneration. However, after the first year, ultrasonography, liver function
testing, and tumor marker level assays are most appropriate for follow-up.
In this patient, owing to a diagnosis of hypovolemic shock and hemoperitoneum, emergency
exploratory laparotomy was initiated. The abdomen was approached through a transverse
supraumbilical incision. A fair amount of bloody ascites was drained. A large, partially ruptured
cystic mass was found descending from the right lobe of the liver, extending into the medial
segment of the left hemiliver (Figure 7).
Extended right hepatectomy was
performed (segments 4-8), which
achieved complete tumor resection. An incidental bile duct transection was repaired with a
primary end-to-end anastomosis. The patient underwent cardiac arrest during surgery, but was
resuscitated with CPR. A closed active drain was placed near the anastomosis. Operating time
was 13 hours, and blood loss was 340 mL, which required multiple packed red blood cells,
platelets, and fresh frozen plasma transfusions.
The patient was transferred to the pediatric intensive care unit in critical condition but recovered
uneventfully. He was transferred to the ward within 5 days, alert, neurologically intact,
hemodynamically stable, and feeding by mouth. He was discharged home on postoperative day
11, without further complications, with normal blood tests, and tolerating oral intake.

In this patient, specimen histopathologic analysis revealed a cystic mesenchymal hamartoma of

the liver (Figure 8), completely resected with free margins.

The patient developed a biliary fistula that was managed conservatively with long-term drainage
(the abdominal drain was left in place for 4 weeks) and octreotide. Follow-up ultrasonography
revealed an infrahepatic fluid collection, without signs of peritonitis. The fistula spontaneously
closed, without biliary stricture. Bilirubin, alkaline phosphatase, and liver enzyme levels
remained normal.
At a follow-up visit 6 weeks later, the patient was doing well; he was asymptomatic, feeding
properly, and gaining weight. His AFP level was 18 ng/mL. Ultrasonography revealed that the
remaining left lateral sector of the liver had increased in volume to age-appropriate size, without
bile duct dilatation. At a follow-up visit 30 months after hospital admission, he was healthy, with
normal development and living a normal life without any sequelae.

Definitive diagnosis requires histologic confirmation. Fine-needle aspiration cytology may be

helpful in excluding differential diagnoses in selected patients. However, it requires aspiration of
adequate material and interpretation by an experienced pediatric cytopathologist.

Mesenchymal hamartoma of the liver is a benign infant tumor of variable size, more commonly
located in the right lobe, and usually multicystic. Although biochemical liver markers are
generally normal, in patients with mesenchymal hamartoma of the liver and elevated AFP levels
at diagnosis, the marker becomes a helpful postoperative follow-up tool.

After complete surgical resection, most patients are cured and recurrences are seldom seen. Two
or three follow-up CT scans are acceptable initially to identify early postoperative complications
and monitor liver regeneration. However, after the first year, ultrasonography, liver function
testing, and tumor marker level assays are most appropriate for follow-up