Stories about: Challenging Cases

Challenges cases: Disorders of sexual differentiation and the ethics of gender assignment

Urology-gender assignmentBoston Children’s Urologist-in-Chief and Associate Clinical Ethicist, David A. Diamond, MDshares three complex cases of ambiguous genitalia in which optimal gender assignment was unclear. These case studies discuss patient history, the process of investigation, subsequent dialogue with each family and decisions made in each case.


Children with disorders of sexual differentiation can present complicated management problems. The most challenging aspect of these cases occurs when optimal gender assignment is unclear. For some conditions, outcomes with regard to gender assignment along a male or female pathway are well established. For other conditions the outcomes are far less clear. Over the past two years, we have encountered three complex cases of ambiguous genitalia in which optimal gender assignment was unclear and a complex process of investigation of these children and a lengthy dialogue with each family was undertaken. Subsequently, a pathway was elected for each case that represented a balance between parental preference and patient self-determination. …Read More

Seizure or not? Non-epileptic paroxysmal events in pediatrics

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“Everything that shakes or faints need not be epilepsy,” the French Child Neurologist Jean Aicardi once said. Unfortunately, an incorrect diagnosis of epilepsy not only exposes a child to the side effects of antiepileptic drugs but also eliminates an opportunity to treat his or her true condition.

The problem is more common than you might think. Research from the U.K. has shown that 25 to 30 percent of children seen for epilepsy turn out not to have it. Children seen in the Boston Children’s Hospital Epilepsy Center for a “CIBAS” consultation (“could it be a seizure?”) also frequently have a different diagnosis. …Read More

Challenging case: ABC tumor of the cervical spine

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The case

After sustaining an apparent neck injury during a routine soccer fall, a 12-year-old presented to a local hospital emergency room. An MRI was ordered and indicated an aneurysmal bone cyst (ABC) tumor in her cervical spine.

The patient was transferred from the local emergency room to the Boston Children’s Hospital Emergency Department.

A CT confirmed the original diagnosis and showed a fracture and erosion of her C-5 vertebra.

Guidelines for ABC tumors in long bones often recommend sclerotherapy prior to surgery. Initially, one recommendation was that the patient undergo sclerotherapy to shrink the tumor, and then undergo surgery to remove the remaining tumor in the future.

The patient was extremely active and eager to have surgery and begin rehabilitation. Her family asked for other options. …Read More

Challenging case: Diagnosing Celiac Disease

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Diagnosing pediatric celiac disease, an autoimmune enteropathy triggered by ingestion of gluten (found in wheat, rye, barley and standard oats), can be challenging.  Despite its high prevalence, effecting approximately 1 percent of the population, many cases go unrecognized.

Presenting signs and symptoms of pediatric celiac disease are varied, ranging from gastrointestinal symptoms such as abdominal pain, diarrhea or constipation to extraintestinal symptoms, such as low energy, poor growth or delayed puberty. Symptoms can be subtle, intermittent or nonexistent. High-risk children include those with autoimmune disease (such as type 1 diabetes mellitus and thyroid disease) and with a family member with celiac disease.

Identifying which children need testing for celiac disease is the first step but is not the only part of the evaluation that can get complicated. Positive celiac serology, such as tissue transglutaminase IgA and endomysial IgA, are typically excellent predictors of celiac disease diagnosis. However, it is important to remember that children without celiac disease can have positive test results. For this reason, small bowel biopsy via esophagogastroduodenoscopy (EGD) before starting a gluten free diet, is still the gold standard for diagnosing celiac disease. …Read More