Patient Presentation
A 6-year-old male came to clinic after hospitalization for a bike-automobile accident. He was wearing a bicycle helmet and had an initial Glascow Coma Score of 11 (i.e. responded to speech, moved to pain and used inappropriate words), and was hemodynamically stable. He had 9th and 10th left rib fractures, a left mid-shaft radial fracture, splenic hematoma, and left renal contusion. He had undergone exploratory laparotomy because of inconclusive initial radiological imaging regarding the extent of his abdominal injuries. His intensive care unit course showed him treated with heavy sedation, casting of radial fracture and monitoring. He remained hemodynamically stable and did not require intubation or transfusion. His mentation returned to normal as sedation was decreased. He was discharged after 9 days including 6 in the intensive care unit. Since discharge a visiting nurse had been seeing him and reported normal vital signs, increasing activity and decreasing fatigue, along with decreasing need for pain medications.

The pertinent physical exam showed a tired appearing male with normal vital signs. He had healing bruises and “road rash” mainly on the left side of his body, along with a cast on his left forearm. He had a healing abdominal scar. His left lower ribs were more bruised and sore with palpation. His abdomen had no tenderness except for the area around the incision. The rest of his examination was normal.

The diagnosis of a patient with post-traumatic injuries that were improving was confirmed. The patient’s clinical course showed that he returned to limited activities at 5 weeks post-injury. By 8 weeks he was out of his cast and only complained of intermittent rib pain that required no treatment. Repeated imaging showed resolution of the splenic hematoma and renal contusion, and he also had normal laboratory testing.

Figure 146 – Axial CT with contrast of the abdomen (above) shows multiple areas of low density in the spleen, a perisplenic fluid collection, and (below) a large amount of free fluid in the pelvis.

Discussion
The spleen is an intraperitoneal organ tucked up under the 9-11th ribs by the diaphragm, and is lateral to the left kidney and stomach which it is connected to by parts of the greater omentum. It is a highly vascular organ where the splenic artery arises from the celiac trunk and branches into 5 splenic segmental arteries. The splenic vein combines with the superior mesenteric vein to form the hepatic portal vein. It has an important role in filtering blood, removing old blood cells, assisting regulation of the amount of blood circulating, and in immunoregulation. People can live without a spleen if it is structurally or functionally damaged (e.g. trauma or sickle cell disease). Patients have an increased risk of infections especially encapsulated organisms and need to be expectantly managed with prophylactic antibiotics and vaccination (especially for pneumococcus, meningococcus and influenza).

Splenic injuries are more common in children than adults due to location, relative size and higher transmission rate of forces through the abdominal wall.

Potential splenic problems include:

• Capsular hematoma
  • At risk for capsular rupture
  • Can be “bruised” to severe capsular distension
• Capsular rupture or laceration
• Arterial thrombosis
• Venous thrombosis

Because the spleen is a highly vascular organ, intra-abdominal bleeding can quickly cause shock even with 5-10% of blood volume loss. Signs of splenic rupture include left sided abdominal pain, left shoulder tip pain, abdominal distension and hemodynamic instability such as syncope and hypotension. Non-operative management of splenic injury is preferred. If operative management is needed then more minimal treatment such as embolization is preferred to splenectomy.

Acutely enlarged spleens are more often caused by infections such as Epstein Barr virus and can cause early satiety, left upper quadrant/shoulder pain, and there could be problems with anemia, or platelets. It can be hard to discern an enlarged spleen on physical examination, but palpable fullness or blottable mass (sometimes described as feeling like a water balloon) in the lateral abdomen indicate potential enlargement.

Learning Point
Causes of splenic rupture include:

• Trauma (very common)
• Atraumatic rupture (uncommon)
  • Infection
    • Epstein Barr virus (up to ~70% in some studies as the cause)
    • Cytomegalovirus
    • HIV
    • COVID-19
  • Malignancy
  • Inflammatory disease/non-infection
    • Pancreatitis
    • Cirrhosis
  • Congenital anomalies

Questions for Further Discussion
1. With Epstein Barr virus and splenic enlargement, when can a patient return to sports?
2. What are presentations of Epstein Barr virus? A review can be found here
3. At what age are patients with sickle cell disease considered functionally asplenic?
Related Cases

Disease: Spleen Diseases | Abdominal Pain

Symptom/Presentation: Trauma

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

Age: School Ager

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: Spleen 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.

Dixon S, Horgan LF. The elusive spleen. Ann R Coll Surg Engl. 2019;101(3):176-179. doi:10.1308/rcsann.2018.0215

Grootenhaar M, Lamers D, Ulzen KK van, de Blaauw I, Tan EC. The management and outcome of paediatric splenic injuries in the Netherlands. World Journal of Emergency Surgery. 2021;16(1):8. doi:10.1186/s13017-021-00353-4

Bakalli I, Biqiku M, Cela D, et al., Atraumatic splenic rupture in a child with COVID 19. BMC Pediatrics 2022;22:300. Accessed June 9, 2025. https://pubmed-ncbi-nlm-nih-gov.proxy.lib.uiowa.edu/35597923/

Schwartz K, Krishnasarma R, Snyder E, et al. Spontaneous splenic rupture in a neonate: a case report and literature review. Emerg Radiol. 2024;31(1):117-122. doi:10.1007/s10140-024-02199-0

Spleen problems and spleen removal. NHS.uk. October 18, 2017. Accessed June 9, 2025. https://www.nhs.uk/tests-and-treatments/spleen-problems-and-spleen-removal/

The Spleen – Position – Structure – Neurovasculature – TeachMeAnatomy. Accessed July 15, 2025. https://teachmeanatomy.info/abdomen/viscera/spleen/

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

Patient Presentation
A pediatrician was talking with her brother who said, “Do you mind if I ask you a medical question?” Slightly hesitantly she said “okay.” He went on, “I have someone I work with closely and his 3-year old boy started having some medical problems, and then recently he had a seizure and was admitted to the children’s hospital. I don’t know a lot more than that but they diagnosed him with something called Tay-Sachs disease. I looked it up and it looks pretty scary to me. I just wondered if you know anything about it? I’m not trying to be nosy. He’s a great guy to work with, and, I guess I just want to understand better.” “I know you and you’re not that type. You’re a listener not a blabber. You want to know so you can listen better to him, right?” she asked. “Yeah, I just think if I understand it better then maybe he wouldn’t have to explain everything if he wants to talk,” said the brother. “Well Tay-Sachs is not something I usually take care of. It’s a problem where there is an enzyme that doesn’t break down the chemicals in the cells right. Those buildup in cells and in the organs, especially the brain and the build up can cause problems. That is probably the reason the boy had a seizure. I know there are different types depending on when the symptoms show up. What they really teach us in medical school is the classic type that affects babies in the first year of life. They have short life spans. Since the little boy is older than that, it’s likely a little different than the baby type, but I would have to look it up and see more exactly what the life span is and any specifics about it. I just remember that all the patients have neurological problems and shortened life spans but obviously that varies alot depending on the person. They also have a specific eye finding which used to help make the diagnosis especially before we had other testing.” Does that sort of help?” she asked. “Yeah, that is sort of what I read, but hearing you say it helps me,” he replied. “I’m very sorry for your friend. It’s a hard diagnosis. I’d also say that the children’s hospital personnel should be able to help him and his family. I’m not sure I can be of any direct help, but if you need some more information I can try to help you understand,” she answered.

Discussion
Tay-Sachs Disease (TSD) is one of many lysosomal storage disorders (LSD). LSD are a group of heterogeneous, monogenetic disorders in which there is disruption of the normal biochemical processes within the cellular lysosome. Toxic waste accumulates within the lysosome which causes “…irreparable cellular damage and organ dysfunction followed by premature death.” Most patients present in infancy or childhood with progressive neurological symptoms. There are some enzyme replacement therapies for some diseases [Gaucher Disease was the first and more information about Gaucher can be found here], but the blood-brain barrier is a significant hurdle for central nervous system-targeted treatment. Some other LSDs may also be treated with stem-cell transplantation.
Each LSD is rare but in combination they have an incidence rate of ~ 1:7-8000 live births. Most are autosomal recessive but some are X-linked (e.g. Mucopolysaccharidoses Type II). Newborn screening tests for many LSDs and also prenatal counseling and specific disease testing may be offered to persons with a high-risk of specific LSDs. Some of the more common LSDs include Batten, Fabry, Gaucher, Krabbe, Niemann-Pick, Pompe, Metachromatic Leukodystrophy, Mucopolysaccharidoses, Sandoff, Tay-Sachs and Wolman.

Learning Point
Tay-Sachs Disease is considered a HEXA disorder because the enzyme hexosaminidase A is used to degrade GM2 ganglioside. Without this enzyme, GM2 ganglioside builds up especially in brain and nerve tissues. It is autosomal recessive and there is a higher risk for the genetics within certain Jewish, Cajun and French Canadian populations. Treatment is supportive, along with genetic counseling.
TSD has 3 subtypes:

Subtype	Acute Infantile	Subacute Juvenile	Late Onset
Age of Symptom Onset	3-6 months	2-5 years	Teens – adulthood
Major Neurological Symptoms	Progressive weakness and motor skill loss, myoclonic jerks	Normal development, then plateauing, then developmental skill loss	Progressive antigravity muscle weakness especially of lower extremities
Other Neurological Symptoms	Cherry-red spots on macula, exaggerated startle response, decrease attentiveness and unusual eye movements, hypotonia, hyperreflexia and sustained ankle clonus	Retinal pigmentation can be seen later in disease, increased muscle spasticity and decrease ambulation, speech declines from dysarthria and drooling to absent speech	Frequent falls, incoordination, dysarthria, tremor
Seizures	Approximately 12 month age onset	Onset during this time period	Psychiatric problems, memory and executive function problems are more common
Neuroimaging	Progressive macrocephaly and ventricular enlargement	Progressive global brain atrophy	Isolate cerebral atrophy
Progression and Life Span	Relatively rapid deterioration with lifespan being age 2-3 years in general, sometimes supportive cares prolong to 5-7 years	Slower deterioration but lifespan is to age 10-15 years	There is a broad clinical variation

ClinicalTrials.gov is one clearinghouse for patients and families who may be looking to participate in all types of research studies including Tay-Sachs disease.
Questions for Further Discussion
1. What has been your experience with taking care of and supporting families with rare diseases?
2. What online resources are available with quality information about rare diseases?
3. How do you handle family and friends who ask you for medical information or advice?
Related Cases

Disease: Tay-Sachs Disease

Symptom/Presentation: Genetic Disorder | Seizures

Specialty: Developmental Disabilities | Genetics | 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: Tay-Sachs Disease and Lipid Metabolism Disorders.

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.

Toro C, Shirvan L, Tifft, C. HEXA Disorders. 1999 March 11, In Adam, MP, Feldman J, Mirzaa GM, et al., [Updated 202, Oct 1] editors GeneReviews. Seatlle (WA); University of Washington, Seattle, 1993-2025.Verma J, C. Thomas D, Sharma S, et al. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders. Prenatal Diagnosis. 2015;35(11):1137-1147. doi:10.1002/pd.4663Jauhari P, Goswami JN, Sankhyan N, Singh P, Singhi P. Unusual Neuroimaging Finding in Infantile Tay-Sach’s Disease. Indian J Pediatr. 2018;85(2):158-159. doi:10.1007/s12098-017-2429-7Anderson S. Newborn Screening for Lysosomal Storage Disorders. Journal of Pediatric Health Care. 2018;32(3):285-294. doi:10.1016/j.pedhc.2017.04.016Ellison S, Parker H, Bigger B. Advances in therapies for neurological lysosomal storage disorders. Journal of Inherited Metabolic Disease. 2023;46(5):874-905. doi:10.1002/jimd.12615La Cognata V, Guarnaccia M, Polizzi A, Ruggieri M, Cavallaro S. Highlights on Genomics Applications for Lysosomal Storage Diseases. Cells. 2020;9(8):1902. doi:10.3390/cells9081902Mistry PK, Kishnani P, Wanner C, et al. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet J Rare Dis. 2022;17:362. doi:10.1186/s13023-022-02517-0

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

Patient Presentation
A 2-year-old male came to clinic for his health supervision visit. The parents and resident physician seeing the infant were worried about some webbing between his 3rd and 4th toes on his left foot. There were no other webbed digits and the patient seemed unbothered by the webbing.

The past medical history showed an uncomplicated prenatal and natal history. The webbing was not noted during his newborn hospitalization. The family history was negative for any congenital abnormalities or orthopaedic problems that the family was aware of.

The pertinent physical exam revealed a well-appearing male with growth parameters around the 50%. His left foot had minor webbing (estimated about 5 mm more than other digits) between the 3rd and 4th toes with spontaneous movement of each of the toes on the foot. The interdigital skin did not appear to have any hard spots when palpated, and had no inconsistencies when transilluminated in the office. The rest of his digits and examination were normal.

The diagnosis of of a simple syndactyly was made. The staff physician counseled the family regarding the problem and the family wanted to continue to monitor it. The patient’s clinical course over time showed no functional problems and he was walking unimpeded at his 12 month visit.

Discussion
Syndactyly is a very common congenital limb disorder. It derives from Greek from syn meaning together and dactylos meaning digit. It has an estimated incident of one in 2000 to 3000 life births, and represents approximately 20% of all hand malformations. Males are more affected than females, and it is more common in the Caucasian population. “The malformation is heterogeneous with unilateral, bilateral, symmetric, and asymmetric variants.” It is often found in isolation but can be syndromic with Apert’s and Poland syndrome being classic examples. Upper extremities are more commonly affected than lower extremities.

The hand digital web spaces most commonly affected in decreasing frequently are the third, fourth, second, and first.

Learning Point
Syndactyly is classified as simple if only the soft tissues are involved. Simple syndactyly is further characterized as incomplete if the soft tissue separation is proximal to the distal phalanx and complete if the soft tissue fusion continues all the way to the distal phalanx. (This makes sense as the embryological formation of the web space starts distally and migrates proximally). Syndactyly is considered complex if the adjacent bones are fused creating a synostosis. Complex syndactyly has abnormal positions of the bones and soft tissues which may include synostoses and webbing. Complex syndactyly is more common with congenital syndromes.

Syndactyly is usually noted at birth and the location and especially the extent of the webbing should be noted. If there is minor webbing (quite proximal) which does not appear to affect the digit function and it is obvious that there is no bony involvement, then patients are usually monitored but may be referred to surgery based on parent and provider preference. If the webbing is more extensive, appears to be affecting function or it is unclear if there is bony involvement then plain radiographs can help with evaluation and patients are often referred for surgical intervention.

Surgical treatment is reconstructive with the goal of allowing independent functioning of each digit. Syndactyly that requires surgical treatment is usually started between 12 and 18 months of age, which allows the hand to grow and to have fewer complications. Simple syndactyly surgical procedures may seem straightforward, but issues such as the changing configuration of the fingers along their length, and even that there is up to 30% less skin available on fused fingers makes the procedure more challenging.

Questions for Further Discussion
1. What are common foot problems? A review can be found here
2. How should shoes be properly fitted? A review can be found here
3. What is the difference between a malformation and deformation? A review can be found here

Related Cases

Disease: Syndactyly | Foot Injuries and Disorders | Hand Injuries and Disorders

Symptom/Presentation: Minor Congenital Anomaly

Specialty: Genetics | Orthopaedic Surgery and Sports Medicine | 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: Foot Injuries and Disorders and Hand Injuries and Disorders.

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.

Tonkin MA. Failure of Differentiation Part I: Syndactyly. Hand Clinics. 2009;25(2):171-193. doi:10.1016/j.hcl.2008.12.004

Kvernmo HD, Haugstvedt JR. Treatment of congenital syndactyly of the fingers. Tidsskr Nor Laegeforen. 2013;133(15):1591-1595. doi:10.4045/tidsskr.13.0147

Chouairi F, Mercier MR, Persing JS, Gabrick KS, Clune J, Alperovich M. National Patterns in Surgical Management of Syndactyly: A Review of 956 Cases. Hand (NY). 2020;15(5):666-673. doi:10.1177/1558944719828003

McGarry K, Martin S, McBride M, Beswick W, Lewis H. The Operative Incidence of Syndactyly in Northern Ireland. A 10-Year Review. Ulster Med J. 2021;90(1):3-6.

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

Patient Presentation
A 17-year-old female was hospitalized with a few week history of fatigue, weight loss and general malaise. She developed increasing cough and difficulty breathing that brought her to the local emergency room and a chest radiograph was markedly abnormal with cavitary lesions.

The past medical history was negative. The family history was positive for diabetes, thyroid disease and arthritis. She had no significant travel or recreational history and had not been exposed to any birds or any other non-domestic animals. She denied intentional weight loss or increased exercise.

The review of systems was negative for any gastrointestinal, dermatological or eye problems. She denied any syncope, mental status changes, hemoptysis or changes in her bowels or bladder. She denied any specific problems with her joints or muscles but said she just “felt weak,” and didn’t feel like moving much.

The pertinent physical exam showed an ill-appearing teenager with heart rate of 92 beats/min, respiratory rate of 32/minute, with normal blood pressure and temperature. She was 163 cm (50%) and weight was 65.2 kg (75%) which was down from 68.4 kg a few weeks previously. HEENT was positive for increased tearing but there was no obvious erythema of the eye structures. She had no skin changes including changes to any mucous membranes. She had no obvious nail clubbing nor significant lymphadenopathy. Her cardiac examination was normal as was her abdomen. Her lung examination had decreased breath sounds throughout but no specific wheezing or rales.

The diagnosis of cavitary pulmonary disease was made. The initial differential diagnosis focused on infections (especially tuberculosis, fungal or abscess), congenital lesions and much less likely pulmonary infarction or oncological disease. The work-up was extensive and eventually a diagnosis of granulomatosis with polyangiitis was made based on abnormal chest radiograph, abnormal urinalysis and eventually kidney biopsy and elevated anti-neutrophil cytoplasmic antibodies. She was treated with cyclophosphamide and corticosteroids.

Figure 145 – Chest radiograph AP and lateral (above) show bilateral thick walled cavitary nodules in the lungs. Axial CT with contrast of the chest (below) shows just how thick walled the cavitary nodules are in the left lung. Multiple smaller non-cavitary nodules are seen scattered throughout both lungs.

Discussion
“Granulomatosis with polyangiitis (GPA), previously referred to as Wegner’s granulomatosis, is a necrotizing vasculitis that affects small and medium-sized blood vessels. It is a systemic disease that results in inflammatory, non-caseating granulomatous lesions that may develop in any organ, but are most commonly in the respiratory tract and kidney. GPA is associated with elevated anti-neutrophil cytoplasmic antibodies (ANCA), similar to microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis.” The role of ANCA in the disease process is being elucidated. Other ANCA-associated vasculitides including microscopic polyangiitis and eosinohilic granulomatosis with polyangiitis (previously known as Churg-Strauss syndrome).

Most patients with GPA are middle age, and pediatric cases are rare and mainly in the adolescent age range. Diagnosis is made by three of six criteria: “…abnormal urinalysis (hematuria and/or significant proteinuria); granulomatous inflammation on biopsy; nasal sinus inflammation; subglottic, tracheal, or endobronchial stenosis; abnormal chest X-ray; or CT, PR3 ANCA or C-ANCA staining.” ANCA if positive can be helpful but in up to 40% of pediatric patients it may be negative especially if there is localized disease. If needed, biopsy can be performed and the kidney is the preferred site.

There are two disease forms, localized and systemic. Localized disease is in the upper airway (especially the subglottic area (up to ~48% in the pediatric age group and is the most common area affected)) but other areas such as the distal trachea and bronchi can be affected. Systemic disease tends to involve the respiratory and renal systems. Renal disease can progress to renal failure and death. Cardiac, gastrointestinal and neurological systems are involved only very rarely. Localized disease tends to relapse whereas systemic disease is less likely to do so. A variety of immunomodulators, chemotherapeutic agents and steroids are used to treat the disease.

Learning Point
Signs and symptoms of GPA include:

• Systemic
  • Fatigue
  • Fever
  • Arthralgia
  • Myalgia
  • Weight loss
• Dermatological
  • Gangrene
  • Purpura
  • Ulcers
• Pulmonary – affects 50% of patients
  • Cough
  • Dyspnea
  • Wheezing
  • Hemoptysis
  • Stridor
  • Nasoseptal perforation
  • Mass
• Renal
  • Necrotizing glomerulonephritis
  • Hematuria
  • Proteinuria
• Ophthalmological
  • Corneal ulcers
  • Episcleritis
  • Scleritis
  • Masses, granulomatous
  • Retinal thrombosis or vasculitis
  • Visual acuity changes

Questions for Further Discussion
1. What causes cavitary pulmonary lesions?
2. What causes hemoptysis? A review can be found here
3. What causes respiratory failure? A review can be found here
4. What are therapy options for renal replacement? A review can be found here

Related Cases

Disease: Granulomatosis with Polyangiitis | Wegener’s Granulomatosis

Symptom/Presentation: Fatigue | Weight Loss | Respiratory Distress

Specialty: Immunology | Allergy / Pulmonary Diseases

Age: Teenager

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: Granulomatosis with Polyangiitis and Vasculitis

.

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.

Filocamo G, Torreggiani S, Agostoni C, Esposito S. Lung involvement in childhood onset granulomatosis with polyangiitis. Pediatr Rheumatol Online J. 2017;15:28. doi:10.1186/s12969-017-0150-8

Lee PY, Adil EA, Irace AL, et al. The presentation and management of granulomatosis with polyangiitis (Wegener’s Granulomatosis) in the pediatric airway. The Laryngoscope. 2017;127(1):233-240. doi:10.1002/lary.26013

Calabrese V, Gallizzi R, Spagnolo A, et al. Granulomatosis with Polyangiitis: A Focus on Differences and Similarities Between Child and Adult Patients. Medicina (Kaunas). 2025;61(3):534. doi:10.3390/medicina61030534

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