A 2-year-old female came to clinic for a second opinion. She was managed by a tertiary medical center in another state and the parents were happy with the care they received but wanted another opinion about diagnosis and overall management. After an uneventful pregnancy and delivery she was noted to be losing weight at her 2 month appointment. Nutritional supplementation and medication for gastroesophageal reflux disease was begun. At 5 months, her length was also falling behind, and she was hospitalized for pneumonia. A swallow study showed dysphagia and aspiration. Nasogastric feeds (later gastric tube feeds) were begun and continue to the present although she does take thickened foods. Over her lifetime, she had developmental delay but no developmental regression and poor muscle tone. She was receiving occupational therapy, physical therapy and speech therapy. A brain magnetic resonance imaging study was negative, cardiology evaluation showed a benign flow murmur, and a genetics consultation showed no obvious chromosomal abnormalities and an initial metabolic screening was normal. Multiple endocrinologic and other laboratory testing has been negative. Two months ago the family did try to wean her off her feeds but she lost weight. At a routine followup appointment, her local pediatrician noted splenomegaly but no hepatomegaly and re-referred her to the geneticist. An ultrasound examination confirmed the splenomegaly with slight enlargement of the liver but which did not meet criteria for hepatomegaly. The parents said that they were told that a urine test was abnormal but that they had to wait for more testing and had a followup appointment in 2 weeks. Later during the evaluation the mother found a torn paper in her purse that she had written when she had spoken with her doctor. The words “aminoglycan” and “sugar” were readable. The review of systems showed her wearing glasses. The pertinent physical exam shows a cooperative female with symmetric growth retardation consistent with the 50% for an 18 month old. Her head was 10% for her chronological age. Her facies are somewhat full with coarsening of the eyebrows. Abdominal examination shows a soft, non-tender abdomen with an intact G-tube button in place. There is no hepatomegaly, but the spleen is palpable 3-4 cm below the left costal margin and especially prominent in the left flank. Neurologically she is hypotonic and sits in a wide-based Indian-style position with tripoding of her arms. Her strength is normal.
The diagnosis of a child with a probable, currently undiagnosed, infiltrative genetic disease was made. The pediatrician said that although he wasn’t sure what the disease was, that it appears from the records available and the history and diagnosis that this was possibly a lysosomal storage disease or a mucopolysaccaridosis. He wrote these down for the parents but cautioned that the geneticist would be the best person to order appropriate tests and interpret them. He also re-assured the family that although it is difficult not to have a diagnosis, it appears that one maybe made soon and that the child seemed to be doing well with the treatment plans in place at their current medical center. The family re-iterated that they were happy with their current plan and providers but “just wanted to make sure” and expressed relief that another person felt that they were providing good care to their child.
Second opinions can often be tricky as there are numerous reasons for the consultation. Often a healthcare provider will send a patient to confirm, deny or interpret a finding, e.g. a possible abnormal growth pattern in an infant. There may be a chronic problem that isn’t responding to the 2nd, 3rd or 4th line treatment, e.g. constipation. Maybe it is an ill-defined problem that despite appropriate evaluation, treatment and time, is not improving, e.g. fatigue. Communication issues often complicate the matter. Perhaps the healthcare provider may not adequately explain the problem to the family, or the family is not adequately listening or understanding the provider. There is always someone – patient, family member or health care provider – who truly has a question that they want answered, or is not able to adequately communicate about it (often both) and therefore this uncertainty can cause anxiety for the family and/or the provider.
The spleen has several functions including clearing defective red blood cells and their inclusions, clearing bacteria, serving as a reservoir for platelets and as a factory for extramedullary hematopoiesis if necessary. The spleen can be enlarged in up to 30% of newborns and 10% of children. Generally it is less than 1 cm below the left costal margin.
The differential diagnosis of splenomegaly includes:
- Congestion – cirrhosis, hepatic fibrosis, portal vein thrombosis, splenic vein thrombosis, long-standing congestive heart failure
- Extramedullary hematopoiesis – osteopetrosis, myelofibrosis, thalassemia major
- Hyperfunction – hemolytic anemia, hemoglobinopathies
- Infection – bacteria, cytomegalovirus, Epstein-Barr virus, brucellosis, malaria, schistosomiasis, toxoplasmosis, fungal diseases
- Infiltration and storage – glycogen storage disease, lipodosis, mucopolysaccaridosis, histiocytoses, sarcoid
- Neoplasm – leukemia, lymphoma, histiocytosis, neuroblastoma
- Benign lesions – hemangiomas, splenic cysts
- Systemic disease – systemic lupus erythematosus
Questions for Further Discussion
1. What are the potential complications of splenomegaly?
2. What are potential indications for splenectomy?
3. When can a child with splenomegaly secondary to Epstin-Barr virus return to athletic competition?
- Disease: Metabolic Disorders
- Age: Toddler
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Information prescriptions for patients can be found at MedlinePlus for this topic: Metabolic Disorders
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
Kainth MK, Kanwar VS, Sills RH. Splenomegaly. eMedicine.
Available from the Internet at http://emedicine.medscape.com/article/958739-overview (rev. 9/4/2008, cited 3/24/2010).
Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:1561.
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients’ is gathered.
4. Patient management plans are developed and carried out.
5. Patients and their families are counseled and educated.
8. Health care services aimed at preventing health problems or maintaining health are provided.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
17. A therapeutic and ethically sound relationship with patients is created and sustained.
18. Using effective nonverbal, explanatory, questioning, and writing skills, the healthcare professional uses effective listening skills and elicits and provides information.
19. The health professional works effectively with others as a member or leader of a health care team or other professional group.
23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.
25. Quality patient care and assisting patients in dealing with system complexities is advocated.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital