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2022 AMA Research Challenge

Propanol Ingestion Presenting as Severe Anion Gap Metabolic Acidosis and Osmolar Gap

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Ricardo Correa, MD, EdD
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Jessica Li, MD/PhD Candidate
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Charles Lopresto, DO

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Welcome to the largest national, multi-specialty research event featuring research from 750 medical students, residents and fellows, and international medical graduates.


poster

Introduction:

Unilateral diaphragmatic paralysis is a condition in which either side of the diaphragm loses the ability to contract resulting in inadequate ventilation eventually leading to respiratory failure. Even though hypothermia-induced hemi diaphragmatic paralysis is a well-established complication of cardiac surgery, a unilateral diaphragmatic paralysis can also occur after automatic implantable cardioverter defibrillator placement.

CASE:

A 61-year-old female with a past medical history of hypertension, left bundle-branch block, Mobitz type 2 block, and chronic systolic heart failure presented to the emergency department with shortness of breath, fatigue, and orthopnea. A Multigated Acquisition (MUGA) scan at the time showed a left ventricle ejection fraction of 28% and a biventricular implantable cardioverter defibrillator placement was recommended. The left ventricular lead was unable to be placed percutaneously and the patient was referred for surgical implantation. The patient underwent left mini thoracotomy with epicardial left ventricle lead placement; the procedure was tolerated well.

Over the course of the next few months, the patient had repeated presentations of shortness of breath and was started on a beta adrenergic-glucocorticoid combination inhaler. This was followed by spirometry which failed to show a reactive airway and hence the inhaler was stopped. Interestingly however, the spirometry did show an extra thoracic restrictive volume flow loop. A chest Xray was obtained that showed left sided hemidiaphragm elevation which was progressively worsening. Since the surgery had been performed recently, this appeared to be a complication that was expected to resolve in around 6-8 months. A follow up Xray in 9 months post-surgery did not show resolution of the paralysis a thus a formal diagnosis of hemidiaphragm paralysis secondary to AICD placement was established. The patient was referred for a sniff test for confirmation.

Discussion:

This case illustrates that post procedure complications may present in unlikely ways even months after the intervention. The emphasis of having an all-rounded approach to presenting complaints cannot be underemphasized. Surgical history should be obtained at every instance as an anatomical cause of an apparent medical symptom can sometimes be the answer.

Unilateral diaphragmatic paralysis after Automatic Implantable Cardioverter Defibrillator placement

Background
Posterior fossa anomalies with prominent cerebrospinal fluid (CSF) spaces include entities such as Dandy-Walker spectrum, arachnoid cyst, mega cisterna magna, and Joubert Syndrome and Related Disorders (JSRD). Many of these have overlapping radiological findings. Several of the differentiating clinical markers only arise with development, making diagnosis difficult at a single point in time. Proper diagnosis requires longitudinal evaluation, careful consideration of diagnostic studies, at times genetic analysis. Continual re-assessment of the primary diagnosis is necessary to ensure proper diagnosis and treatment.

Case Presentation
A 15-year-old male was brought by his father to establish primary care. Father reported history of spastic quadriplegia and DWM and expressed concern about the patient’s episodic abnormal breathing patterns. Physical exam showed the patient was alert and interactive although speech was limited to “mom” and “dad”. The head was of normal circumference. There was bilateral exotropia, occasional nystagmus, and spastic muscle tone in all limbs. The lungs were clear to auscultation bilaterally. Referral was made to neurosurgery, who disputed the diagnosis of DWM given the clinical picture and prior imaging. A brain MRI showed severe vermis dysplasia with enlargement of the fourth ventricle, prominence of the posterior fossa CSF-spaces, diffusely abnormal foliation and fissuring of bilateral cerebellar hemispheres, and molar tooth sign (MTS) with deepening of the interpeduncular fissure and extension of the superior cerebellar peduncles. The patient received correction of diagnosis to JSRD.

Discussion
JSRD is a ciliopathy with autosomal and X-linked genetic variants. The primary diagnostic criteria are delayed developmental milestones, hypotonia evolving into truncal ataxia, and characteristic imaging. Secondary criteria include oculomotor apraxia and alternating episodes of tachypnea with apnea. “Pure” Joubert Syndrome expresses only primary and secondary criteria, while JSRD is considered when there are accompanying renal, hepatic, ophthalmic, and phalangeal abnormalities.

JSRD and DWM share several radiological criteria, including vermis hypoplasia and prominence of the posterior fossa CSF-space, leading to some diagnostic ambiguity. At a young age, patients with underlying JSRD or DWM may have similar clinical presentation. To ensure early differentiation clinicians should be aware of MTS as a pathognomonic radiologic finding for JSRD.


Joubert Syndrome and Related Disorders

Cranial empyema is a neurosurgical emergency. The body’s response attempts to wall off infection, resulting in a characteristic capsule that can be visualized through imaging. Organisms often correlate with patient age, medical history, and source of infection. In the setting of meningitis Streptococci, Staphylococci, Haemophilus, and other gram-negative bacilli predominate. In contrast, Escherichia and Salmonella species are often responsible for infections of existing subdural hematomas. According to prior studies, empyema of this etiology are typically less aggressive, in contrast to the refractory case seen in our patient. Neurologic prognosis is contingent on early diagnosis and management. We hope to discuss the importance of early radiologic follow-up and differentiating features between empyema and subacute subdural hematomas.


Refractory Empyema Secondary to Escherichia coli Infection of an Infantile Subdural Hematoma

Background
Nipple discharge presents in approximately 3 to 10% of women and is classified as either physiological (green, white, or yellow) or pathological (bloody). Unilateral, spontaneous bloody nipple discharge (BND) presents due to an underlying malignancy in 5-21% of cases. The American College of Radiology does not recommend imaging for physiological discharge but recommends a mammogram (MMG) and ultrasound (US) as first-line imaging modalities for BND dependent upon age. Ductography and magnetic resonance imaging (MRI) are used to further rule out benign, premalignant lesions, such as intraductal papillomas. Studies show MRI has a 93-100% sensitivity for detecting invasive breast cancer, but is not generally used unless suspicion for malignancy remains high after MMG and US are inconclusive. 

Case Presentation
A 53 year-old female presents for diagnostic MMG for complaints of focal right breast pain and BND. Digital breast tomosynthesis (DBT) in January 2021 showed stable calcifications, seen as early as 2019, and no abnormalities. US of the right breast showed a 5x3x3mm subareolar irregular mass, therefore, 6-month follow-up with MMG was recommended. A high-risk MRI 1 month later demonstrated non-mass enhancement extending 2-11 cm from the nipple in the right breast, and a retroareolar hyperintense T2 material extending into the area of non-enhancement. Stereotactic biopsy pathology results confirmed ductal carcinoma in situ, atypical ductal hyperplasia, and intraductal papilloma, with estrogen receptor and progesterone receptor positivity. 

The patient underwent a total mastectomy of the right breast, as breast conserving treatment was not considered due to MRI findings of 9x11x5 cm enhancement, comprising the entire lateral breast. Surgical pathology confirmed DCIS with microinvasion and tumor staged T1N0M0. 

Discussion
Standard treatment of BND typically includes invasive measures such as ductoscopy and major duct excision. However, the case demonstrates the ability for MRI to detect abnormalities not seen on DBT and display the total extent not fully appreciated by US. The use of MRI earlier in the diagnostic process allows for the use of breast conserving measures and, moreover, decreases chances of invasive and even metastatic lesions. This would result in less of a need for more aggressive treatments and also decreases mortality rates. 


The Use of MRI to Detect Malignancy in a Patient Presenting With Unilateral Bloody Nipple Discharge and Unremarkable Diagnostic Mammogram

Adalimumab Induced Lupus: A Review of Case Reports

Abstract Title:
Case Report: Patient with an ANCA negative and treatment-resistant Granulomatosis Polyangitis with CNS involvement.

Background:
Granulomatosis polyangiitis (GPA) is a rare autoimmune disorder affecting the small and medium-sized vessels, most seen in people around 40-60 years of age. Anti-neutrophil cytoplasmic autoantibodies (ANCAs) directed to proteinase 3 (PR3-ANCA) or myeloperoxidase (MPO-ANCA) are strongly associated with ANCA-associated vasculitis. However, about 10-20% of patients are ANCA negative making it harder to diagnose patients with non-specific symptoms.

Case Presentation:
A 55-year-old female was diagnosed with ANCA negative GPA with CNS involvement. The patient was initially treated with a 3-month course of prednisolone; however, upon recurrence, she was then started on pulse methylprednisolone treatment with cyclophosphamide and rituximab. Despite treatment, the patient developed ischemic stroke and osteomyelitis at the base of the skull. She continued to deteriorate and was subsequently started on high-dose steroids, immunosuppressants, vasopressors, and broad-spectrum antibiotics, including colistin, ciprofloxacin, and teicoplanin. The patient had notable clinical improvement after an array of medical management, transferred out to long term rehabilitation care and subsequently discharged.

Discussion:
GPA is a systemic inflammatory disease characterized by necrotizing granulomatous inflammation and pauci-immune small vessel vasculitis of the upper and lower respiratory tract and kidneys. Most individuals are ANCA positive, and just 10% are ANCA negative. Most ANCA-negative patients have restricted disease or disease that only affects the upper and lower respiratory tracts, and the involvement of the CNS is infrequent.
Patients with ANCA-associated vasculitis have historically reacted successfully to large doses of prednisone combined with immunosuppressants, with a response rate as high as 87.7%. In our patient, the absence of ANCA may have altered the clinical response of GPA to such medications.
Advances in its management include targeted therapy which has emerged as a promising means of treating cyclophosphamide-resistant patients with GPA. Rituximab and infliximab have shown their role in handling GPA patients resistant to cyclophosphamide.
Our case demonstrates the value of prompt rheumatology team intervention when GPA is suspected, even when c-ANCA results are negative. Early detection can prevent the disease from spreading, which would otherwise have severe local and systemic effects.


Case Report: Patient with an ANCA negative and treatment-resistant Granulomatosis Polyangitis with CNS involvement.

Systemic Lupus Erythematosus is an autoimmune disease with a variety of dermatologic findings; in this report, we review a unique case of Systemic Lupus Erythematosus and conduct a literature review of similar pediatric presentations. A previously healthy 13 year-old female presented with painful, oral mucosal bullae filled with sanguineous fluid. She endorsed a tender right knee, but physical examination revealed no additional abnormalities. After CBC demonstrated severe thrombocytopenia, anemia, and leukopenia, the patient was admitted. Further workup, including Coombs positive RBCs and positive ANA, anti-Smith, and anti-dsDNA antibodies, confirmed Lupus as the etiology of this patient’s presentation. A form of Blistering Systemic Lupus Erythematosus was likely responsible for the patient's oral manifestations. After receiving 60g IVIG and 3 days of high dose pulse corticosteroids, her dermatologic symptoms resolved. Although cases of Blistering Systemic Lupus Erythematosus with mucosal bullae have been described in the literature, this is the first documented case of hemorrhagic mucosal bullae as the presenting symptom of Systemic Lupus Erythematosus in a pediatric patient. This case may help guide future diagnostic planning when confronted with a pediatric patient presenting with atypical mucosal lesions, expediting diagnosis and providing the patient with more efficient treatment.

Identifying Systemic Lupus Erythematosus Presenting as Hemorrhagic Oral Bullae in a COVID Positive Pediatric Patient

Background:
Retroperitoneal fibrosis (RPF) is a rare condition involving fibrotic inflammation which encases and compresses retroperitoneal structures. 2/3 of cases are idiopathic and often fall under the spectrum of IgG4 related diseases. The remaining 1/3 are secondary to infection, drugs or malignancy.

Case Presentation:
A 45-year-old man with hypertension, back pain, and psoriasis (started on adalimumab 6 months) ago presented to the emergency department with abdominal/back pain, leg edema, and AKI in the setting of 9 months of night sweats, weight loss, and constipation. A CT abdomen was read as retroperitoneal hematoma concerning for ruptured abdominal aortic aneurysm (AAA). He was transferred urgently to our tertiary medical center where he was placed on nicardipine and esmolol drips and proceeded to CT angiogram. This was negative for AAA but instead showed a large retroperitoneal mass surrounding the abdominal aorta extending from above the level of the inferior mesenteric artery inferior into the upper pelvis, and laterally as far as the cecum. He was also found to have bilateral hydronephrosis for which nephrostomy tubes were placed.

The patient underwent an FDG-PET scan showed high FDG avidity of his mass. Finally, biopsy of the mass showed an increased polyclonal population of plasma cells. 5% of IgG+ cells stained for IgG4. He was initiated on high dose prednisone for treatment of retroperitoneal fibrosis and was discharged with nephrostomy tubes. His home adalimumab was discontinued. His retroperitoneal mass slowly decreased in size on serial CT scans and his symptoms resolved over several months.

Discussion:
A rare illness, RPF is often mistaken for AAA in the emergency setting due to its predisposition for the peri-aortic region. A careful history is crucial to the diagnosis of RPF. The constellation of flank pain, constipation, and hydronephrosis with subacute inflammatory symptoms should raise suspicion for this disorder. RPF should be especially considered in patients with malignancy or those on certain medications including ergot alkaloid derivatives and biologics. Adalimumab is not a commonly reported culprit in the literature but was discontinued for this patient. Recognition of this disease is crucial as most forms are highly responsive to prompt initiation of steroids.

Retroperitoneal Fibrosis: A Rare Mimic of AAA

The rare presence of both Anti-TIF1-y and PL-7 antibodies in a case of Dermatomyositis.

Background: Rib fractures are a well-known risk of cardiopulmonary resuscitation (CPR) in children and adults alike. While fractures of the ribs commonly occur during CPR, herniation of the lung through the intercostal spaces is rare. This clinical vignette details the case of an elderly woman who experienced subcutaneous emphysema and lung herniation following manual CPR.
Methods: Case Report
Results: A 72-year-old woman with a history of hypertension, hyperlipidemia, chronic obstructive pulmonary disease, gastroesophageal reflux disease, cerebral vascular accident with a left basal ganglia infarct, bladder cancer with urostomy, depression, anxiety, and colon cancer was seen following two cardiac arrests at another facility. While performing CPR during the second cardiac arrest, the patient endured a rib fracture, left lung herniation, and diffuse subcutaneous emphysema that extended from the face to the torso. The patient was intubated and transferred to another hospital. Upon arrival, bilateral chest wall blow holes were placed and
bilateral wound vacuum-assisted closure devices were applied. Following partial resolution of the subcutaneous emphysema, the patient was placed under general anesthesia and underwent a flexible bronchoscopy and left video-assisted thoracoscopy. Thoracoscopy revealed lung herniation and penetrating injury as a result of the broken ribs piercing the entrapped lung. The incarcerated anterior upper left lobe and part of the lingula were reduced and the defect in the ribs was closed with two V-Loc sutures endoscopically. The patient experienced no acute issues post-operatively.
Conclusion: In the rare case that a patient experiences lung herniation following CPR, video-assisted thoracoscopy and endoscopic reduction of the incarcerated lung offers a plausible surgical treatment.

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Propanol Ingestion Presenting as Severe Anion Gap Metabolic Acidosis and Osmolar Gap

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