Patient Presentation
A 9-month-old male came to clinic because of an abdominal mass that had been felt by his visiting aunt when she was bathing him. He was overall healthy and the review of systems was negative for fever, nausea/emesis, constipation, pain, limp, sweating, bruising, bleeding, or other problems. The past medical history was non-contributory and family history was also negative for any cancer.

The pertinent physical exam showed a healthy appearing male with normal vital signs and growth parameters in the 50-75%. His abdominal examination revealed a distinct palpable mass on the right side below the liver. The liver felt distinct from it and didn’t appear specifically enlarged. The spleen was not palpable. He had some shotty cervical and groin lymph nodes but nodes in other areas were not appreciated.

The diagnosis of an abdominal mass was made. Oncology and surgery were consulted and after presentation at tumor board, the patient underwent resection with an intravenous port placed for chemotherapy which he was tolerating at his followup.

Figure 132 – Three sequential axial images from a CT with contrast of the abdomen show a large non-enhancing right-sided abdominal mass containing a few calcifications which originates in the region of the right adrenal gland and crosses the midline. The mass is separate from the liver, which it displaces anteriorly, and the mass is separate from the right kidney, which it displaces inferiorly.

Discussion
Abdominal pain is a very common problem with abdominal masses being somewhat less common. If one considers how frequently patients have abdominal pain due to constipation and that it often presents with a fecal mass, both of these are commonplace. Abdominal and pelvic organs are sometimes mistaken for masses also. As the abdominal and pelvic cavities are large, tumors often need to be quite large before they cause functional problems and/or can be palpated on physical examination.

A review of abdominal masses can be found here.
A review of recurrent abdominal pain can be found here.
A review of acute abdominal pain can be found here.
A review of pelvic pain can be found here.

Learning Point
Neuroblastoma is the most common abdominal tumor in children and the third most common solid tumor. It was first described in 1862 by Rudolf Virchow. It is a tumor of the sympathetic peripheral nerves, with approximately 700 cases/year occurring in the US. Presentation depends on the location, stage, and risk status. “About 37% of patients are diagnosed as infants, and 90% are younger than 5 years at diagnosis, with a median age at diagnosis of 19 months. Increasing age has poorer prognosis.”

Presentations include Horner syndrome (arising within the stellate gangion), dyspnea (arising in the chest), and incidental abdominal mass. Its metastases (especially for bone marrow and cortical bone) also can cause presentations including fever, weight loss, limp/refusal to walk, back pain, compression fractures of the spine, hemiplegia (due to spinal foramina invasion), periorbial ecchymoses (hemorrhage within the orbit sometimes referred to as racoon eyes), neurogenic bladder or severe constipation. Another particular presentation is opsoclonus-myoclonus-ataxia syndrome (OMAS) in children which is also known as dancing eyes/dancing feet. About 50% of patients with OMAS will have neuroblastoma. Tumors arising around the adrenal gland can potentially cause associated endocrine symptoms.

High lactate dehydrogenase and ferritin levels usually indicate higher tumor burden or higher risk pathology and therefore have poorer prognoses. Urinary catecholamines are also elevated. All are used to help monitor disease progression. Imaging is important to help define the tumor and its surrounding anatomy and plan for surgical treatment. Histopathology is important for understanding the tumor’s risks including its chromosomal abnormalities, ploidy (number of chromosomes), and MYCN amplification (neuroblastoma was the first tumor to use this marker). Most important risk factors are age ( 18 months), tumor stage at diagnosis, MYCN amplification and histopathological classification.

Treatment for low risk groups may be only surgery and many of these patients have high survival rates. Some very young patients with particular pathology and staging may only be monitored closely as spontaneous regression can occur. Surgical resection for low risk groups is for tumor removal as potential cure. Patients who have intermediate or high risk status, usually have chemotherapy (before and/or after surgery), surgery and potentially radiotherapy. Surgical procedures here often are for biopsy, debulking, control of local disease and side effects of treatment.
Other treatment includes stem cell transplantation and immunotherapy.

Questions for Further Discussion
1. What other solid tumors are common in young children?
2. How does leukemia present?
3. Beckwith-Wiedemann is associated with what type of childhood solid tumor?

Related Cases

Disease: Neuroblastoma

Symptom/Presentation: Abdominal Mass

Specialty: Oncology | Radiology / Nuclear Medicine / Radiation Oncology | Surgery

Age: Infant

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Neuroblastoma

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Neuroblastoma Treatment (PDQ) Health Professional Version – NCI. Published December 9, 2022. Accessed December 19, 2022. https://www.cancer.gov/types/neuroblastoma/hp/neuroblastoma-treatment-pdq

Croteau N, Nuchtern J, LaQuaglia MP. Management of Neuroblastoma in Pediatric Patients. Surg Oncol Clin N Am. 2021;30(2):291-304. doi:10.1016/j.soc.2020.11.010

Chung C, Boterberg T, Lucas J, et al. Neuroblastoma. Pediatr Blood Cancer. 2021;68(S2). doi:10.1002/pbc.28473

Bhatia P, Heim J, Cornejo P, Kane L, Santiago J, Kruer MC. Opsoclonus-myoclonus-ataxia syndrome in children. J Neurol. 2022;269(2):750-757. doi:10.1007/s00415-021-10536-3

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Patient Presentation
A 3-year-old male came to the emergency room by ambulance after a non-provoked generalized seizure. The patient was in his normal state of health when his parents heard unusual sounds from his bedroom. They found him on the floor unresponsive and moving all extremities. This occurred until about the time the ambulance came which was estimated at more than 10 minutes. He had no fever or illnesses before. The past medical history was non-contributory. The family history was negative for any neurological or genetic conditions. The social history revealed that he had moved to the United States from Mexico 8 months earlier. In Mexico he had received routine care and his immunizations were current. The review of systems was negative.

The pertinent physical exam showed a groggy male who would awaken to his parents, and would appropriately cry with medical procedures and personnel. He had normal vital signs including being afebrile. His weight was estimated to be 50%. His examination was normal. Hs neurological examination showed normal cranial nerves, tone and strength. Deep tendon reflexes were 2+. Gait and balance could not be tested.

The work-up included a normal complete blood count except for some mild eosinophilia, C-reactive protein, complete metabolic panel, urinalysis. Cultures were pending. The radiologic evaluation of magnetic resonance imaging of his head showed a solitary ring-enhancing cystic parenchymal mass that was ~1.5 centimeters in size. The radiologist felt this could be consistent with neurocysticercosis. The diagnosis of a solitary mass was made as the probable seizure cause.

The patient’s clinical course included being admitted to the hospital, where he was placed on precautionary antibiotics after a lumbar puncture which showed white blood cells of 20 that were mononuclear, protein of 65 mg/100 ml, and glucose of 45 mg/100ml. The infectious disease specialist was also consulted who also felt this was consistent with neurocysticercosis. Additional testing including serology was positive for cysticercosis. He was started on a 30 day course of albendazole. Neurology consultation also agreed with beginning antiepileptic medication especially after he had another 30 second seizure witnessed in the hospital. At followup 2 weeks later, he was doing well. He had been quite tired for about 5 days after admission but his energy was almost back to normal as was his sleep. He had had one other 30 second seizure the day after leaving the hospital. He was tolerating his medications without problems.

Figure 131. Axial T2 (above left), FLAIR (above right), T1 without contrast (below left) and T1 MRI with contrast (below right) of the brain show a small round cystic lesion in the left frontoparietal region at the grey matter-white matter junction with a large amount of surrounding edema that enhances peripherally.

Discussion
Neurocysticercosis (NCC) is the most common parasitic CNS infection world-wide. It is caused by the larval stage of the pork tapeworm Taenia solium. It is endemic in Southeast Asia including the Indian Subcontinent, sub-Saharan Africa and Latin America. It is becoming more common in other areas of the world because of immigration and the overall ease of travel.

The basic Taenia lifecycle is that humans eat un- or undercooked pork (pigs are the intermediate host) that is invested with the larvae called cysterici. The adult tapeworm forms in the human gastrointestinal tract and eggs are produced. Humans are the definitive host. The eggs are shed in the stool and pigs ingest the eggs, and the eggs infect the pig and form the larvae again. Eggs in the human gastrointestinal tract (from the adult tapeworm or by fecal-oral ingestion) form embryos which cross into the bloodstream and then can lodge in any human tissue in the larval form. Therefore there are two different types of human infections: the adult tapeworm called taeniasis and the larval form called cysticercosis.

Seizures are a common presenting symptom, so the differential diagnosis associated with first time seizures need to be considered such as febrile seizures, meningitis/encephalitis, masses, and electrolyte abnormalities. Also with NCC, other infections such as brain abscesses, brain granulomas (especially tuberculosis), fungal lesions and other types of brain cysts.

The diagnosis can be challenging. NCC criteria includes histological demonstration of the organism, characteristic neuroimaging features and laboratory evidence and exposure/history. Computed tomography or magnetic resonance imaging may show characteristic features such as a solitary cystic lesion with enhancement occurring at the grey-white matter junction, but often show other characteristics. If the organism’s scolex is seen this is considered diagnostic for NCC. Serological testing can be very helpful. Blood serology is very specific, and can be very sensitive depending on the patient’s clinical status. Positive testing is indicative of disease, but negative testing cannot exclude NCC as a possibility. Not surprisingly patients may have a peripheral blood eosinophilia. Cerebrospinal fluid examination may show moderate pleocytosis, increased protein levels and low glucose. Low glucose is associated with a poorer prognosis.

Treatment begins with controlling symptoms especially seizures and increased intracranial pressure with antiepileptic therapy and/or corticosteroids. Cysticidal therapy has been shown to hasten cyst resolution, but potentially could worsen the patients’ symptoms and so in some cases it is not used. Albendazole is preferred to praziquantel because of lower side effects and cost. Repeated imaging is performed about 3-6 months after treatment to monitor cyst resolution. Patients without resolution or continued symptoms are often treated again with another course of cysticidal therapy. Patients with single lesions have good prognosis with most having lesion resolution and seizures well-controlled by 6 months. More extensive initial disease and difficult to control symptoms have poorer outcomes.

Learning Point
Although cysticerosis can affect any human tissue, major problems occur when they affect the central nervous system and occular structures. NCC has 4 stages that the cyst undergoes from encystment to degeneration and calcification and has a long incubation period.

• Parenchymal NCC is the most common especially in children. The cysticeri usually lodge at the grey-white matter junction of the brain parenchyma where they can lie quiessent for many years until the immune system detects the cyst and local inflammation occurs.
  As the body tries to kill off the invader, it can affect the brain mainly presenting as seizures but also mass effects, altered mental status, focal neurological effects and headaches.
• Intraventricular NCC can have cysts attached to the wall or potentially free floating. They can cause increased intracranial pressure through CSF obstruction and hydrocephalus.
• Subarachnoid NCC can also occur but is very rare and is often seen with intraventricular NCC. Patients usually present with increased intracranial pressure and/or meningitis or encephalitis.
• Spinal NCC can cause compression including mimicing transverse myelitis, radicular pain or cauda equina syndrome.
• Ocular cysticercosis usually is caused by cysts in the subretina. It can cause any type of visual abnormalities including ptosis, eye pain and can cause blindness.

Questions for Further Discussion
1. What are the classifications of seizures? A review can be found here
2. What other movement problems can be confused with seizures? A review can be found here
3. List some common pediatric parasitic diseases and how they are managed?

Related Cases

Disease: Cysticercosis | Parasitic Diseases | Seizures | Epilepsy

Symptom/Presentation: Seizures

Specialty: Emergency Medicine | Infectious Diseases | Neurology / Neurosurgery

Age: Preschooler

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Parasitic Diseases and Seizures.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Singhi P, Suthar R. Neurocysticercosis. Indian J Pediatr. 2015;82(2):166-171. doi:10.1007/s12098-014-1576-3

de Oliveira RS, Viana DC, Colli BO, Rajshekhar V, Salomao JFM. Pediatric neurocysticercosis. Childs Nerv Syst. 2018;34(10):1957-1965. doi:10.1007/s00381-018-3889-4

Veeravigrom M, Thampratankul L. Neurocysticercosis in Children. Pediatr Clin North Am. 2022;69(1):115-127. doi:10.1016/j.pcl.2021.09.005

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Patient Presentation
A 9-month-old male came to clinic for his health supervision visit. He was growing and developing well. When reviewing the family history his mother became tearful. “I wanted to tell you that my niece died about a month ago. She was my sister’s second baby and died at only 2 days old. They said she had a heart problem where her heart valve was stuck down into the lower part of her heart. They tried but there wasn’t much they could do. I’m worried that he might have the same thing,” she explained.

The pertinent physical exam for the infant showed normal growth at the 50-75% and normal development. There was no evidence of cyanosis or congestive heart disease and he had a normal heart exam.

The diagnosis of a healthy infant was made and his mother was reassured that he was growing and developing normally. After expressing his sympathy, the pediatrician and mother discussed the problem further, and he said, “The problem could be many things but this could be Ebstein’s anomaly or some similar heart problem. I think you should find out more, especially if they are recommending additional testing for family members. It’s really hard right now, but this is the best time to actually find out the diagnosis so we can know for your whole family in the future.”

Discussion
Ebstein’s anomaly (EA) accounts for about 0.3-0.5% of all congenital heart disease and about 40% of all tricuspid valve (TV) pathologies. It was first described by Dr. William Ebstein in 1866.

In EA’s simplest form, the TV is displaced inferiorly from the normal hinge points into the right ventricle (RV). This is caused by delamination of both the septal and mural leaflets and they usually form a combined leaflet which can be more adherent to the RV. These anatomical changes causes poor movement of the leaflet(s) and tricuspid regurgitation. Displacement inferiorly can cause decreased RV capacity and RV outflow obstruction. Displacement also causes part of the RV to be incorporated into the right atrium (RA) which itself can cause functional RV hypoplasia.

It’s not surprising that numerous other problems result because of these anatomical changes. These include atrial septal defects (with right-to-left shunting and cyanosis), RV fibrosis, pulmonary atresia or stenosis, Tetralogy of Fallot and transposition of the great vessels. The heart’s left side is also affected including left ventricle (LV) and mitral valve (MV) problems. Arrhythmias are not uncommon with both atrial, ventricular and accessory pathway tachycardias. Atrial tachycardias are quite common in unoperated older patients. Tachycardias themselves exacerbate the problem. For example, supraventricular tachycardia decreases the RV filling time, decreases RV outflow, and increases RA pressure. In a neonate, increased RA pressure can increase shunting across an atrial septal defect further increasing cyanosis. EA can be associated with decreased lung development and volume as well.

Learning Point
EA is usually sporadic but there are some familial cases. It can present in fetal to adult life depending on how severe it is. EA can be detected in utero with ultrasound. Severe hemodynamic problems can cause in-utero demise (up to ~27%) or neonatal mortality. Neonatal or early infants are usually detected because of cyanosis, congestive heart failure or on pulse oximeter screening for congenital heart disease at 24 hours of life. Patent ductus arteriosus closure can improve or worsen the neonate’s condition depending on the anatomy. Mortality is ~18% in the neonatal period. Children often present with a previously undetected murmur and older children and adults present with palpitations and/or arrhythmias. Reduced exercise tolerance and/or cyanosis can be observed. Incidental cardiomegaly findings on chest radiograph also happens. Overall about 30% of patients die before age 10 years with a median mortality of age 20 years. Obviously many patients can remain asymptomatic for years.

Treatment differs depending on the anatomy, age and symptoms. Medical treatment and support, ablation for arrhythmias, and cardiovascular surgery are the options. Surgical indications include a critically ill neonate, severe or progressive functional deterioration, recurrent or intractable arrhythmias, and emboli.

Questions for Further Discussion
1. What are the five “T’s” of cyanotic congenital heart disease? A review can be found here.
2. What are common acyanotic congenital heart diseases? A review can be found here.
3. What are common heart leaflet problems and how do they present?

Related Cases

Disease: Ebstein’s Anomaly | Congenital Heart Disease | Heart Valve Diseases

Symptom/Presentation: Heart Failure

Specialty: Cardiology / Cardiovascular-Thoracic Surgery

Age: Infant

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Congenital Heart Defects and Heart Valve Diseases.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Kumar TKS, Boston US, Knott-Craig CJ. Neonatal Ebstein Anomaly. Semin Thorac Cardiovasc Surg. 2017;29(3):331-337. doi:10.1053/j.semtcvs.2017.09.006

Walsh EP. Ebstein’s Anomaly of the Tricuspid Valve: A Natural Laboratory for Re-Entrant Tachycardias. JACC Clin Electrophysiol. 2018;4(10):1271-1288. doi:10.1016/j.jacep.2018.05.024

Ramcharan TKW, Goff DA, Greenleaf CE, Shebani SO, Salazar JD, Corno AF. Ebstein’s Anomaly: From Fetus to Adult-Literature Review and Pathway for Patient Care. Pediatr Cardiol. 2022;43(7):1409-1428. doi:10.1007/s00246-022-02908-x

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

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