Zoe Reinus

Title: The million-dollar workup

Abstract

What happens when medicine is confronted with the most devastating diagnoses? In this case report we explore the intersection of human nature, diagnostic truths, and the need for certainty.

Introduction:

Doctors work in a paradigm of defensive medicine, defined as “the practice of recommending a diagnostic test or medical treatment that is not necessarily the best option for the patient, but mainly serves to protect the physician against the patient as potential plantiff” (Defensive Medicine, 2025). It’s painted in the walls of hospitals and sewed in the fabric of rising healthcare costs. It’s a judgement cast with rolled eyes and a shoulder shrug. But it is also a core vulnerability of the practice of medicine: we take care of people and sometimes it goes wrong.

However, in the million-dollar work up I describe below, the repetition – repeat procedures, repeat laboratory tests ordered three-times over – highlights a second vulnerability that cannot be taught, only experienced: as doctors, we face diagnoses and circumstances that would break your heart.

The disease in question has a highly variable – and often initially vague – presentation. She had all the appropriate work-up in a relatively timely manner. And it didn’t matter. She was misdiagnosed, she was given the run around, and (debatably) healthcare resources were overutilized.

Case Presentation:

The patient is a 30-year-old right-handed female with PMH of childhood-onset epilepsy, migraines, chiari malformation, and IBS. Prior to symptom development, she was independent with ADLs and iADLs; she worked as an x-ray tech.

Her symptoms started in December 2024, when she developed episodes of head dropping, full body loss of tone alternating with full-body stiffness. By April of 2025, she was wheelchair bound and dependent for ADLs. She was ultimately admitted to the hospital in July 2025 for breakthrough seizures. Her hospital course was complicated by night-time hypoxia requiring night-time oxygen. Further detail of work-up and treatment prior to and during the hospitalization preceding her IRU admission is described in the Tests and Results section below.

My initial physical exam revealed a young female who was lethargic with flat affect. She was alert and oriented to person, place, time, and event; she relayed her story to me; and she followed commands. Her speech was fluent with minimal dysarthria. She did have conversational dyspnea, but overall normal work of breathing on room air. Obese body habitus, soft and nondistended. No pitting edema to the BLE. Sensation intact to upper and lower extremities, equal. Positive Hoffmann's on the left and at least 2-3 beats of ankle clonus bilaterally; she was hyperreflexic, 3+ in BLE. On manual muscle testing:

She was admitted for "Brain Dysfunction: 02.1 Non-Traumatic /encephalitis. Acute on subacute progressive neurologic decline with breakthrough seizures C/F autoimmune encephalitis” with suspicion for Functional Neurological Disorder.

Differential Diagnoses:

Below are leading differential diagnoses discussed in alphabetical order.

Tests, Results, & Treatment:

I will discuss her extensive work-up in three phases: the initial phase primarily driven by her PCP and outpatient consultants from February to April 2025. The second phase took place from May to July 2025. Then from August to October, during her ultimate hospitalization and diagnostic work-up. Notably, in July she was in and out of the hospital for breakthrough seizures, ultimately being admitted on 7/27/2025 for three months, until the diagnosis was made.

Her initial work-up included imaging of her lumbar spine to rule out myelopathy or radiculopathy, CT soft tissue neck for dysphagia, and an MRI brain for repeated falls. Her CT of the soft tissue, ordered for dysphagia, showed lymphadenopathy for which she ultimately underwent a PET scan. There was no evidence of hypermetabolic activity that would raise suspicion for malignancy. Given evidence of an elevated left hemidiaphragm on CXR, a FL-Sniff test was ordered, which showed mildly decreased left hemidiaphragm orthograde excursion suggesting left diaphragmatic weakness, no findings of paralysis

As for labs, she started with a rheumatology panel in March 2025 to rule out disorders such as Lupus, Sjogren's, and scleroderma. While she did have an elevated ANA titer, no antibodies were positive, thus it was declared an insignificant finding. . She had her first NCS/EMG in April 2025, which was completely normal. Overall, this initial work-up was inconclusive.