United States

Background:
Plexiform neurofibroma is a pathognomonic manifestation of Neurofibromatosis type 1 (NF1), a rare autosomal dominant genetic disorder caused by a mutation in chromosome 17q 11.2, affecting approximately 1 in 3000 births. Elephantiasis Neuromatosa (EN) is an uncommon presentation of plexiform neurofibroma, which leads to severe limb hypertrophy and can be mistaken as Filariasis. Here, we present a challenging adult case of EN initially misdiagnosed as filariasis for 15 years. Prompt recognition and accurate diagnosis were crucial for managing rare NF-1 presentations such as EN, addressing treatment complexities, and access challenges. By navigating beyond the traditional borders of diagnosis and treatment, this case sheds light on the intricate management dilemmas faced in such scenarios.

Case Presentation: 
A 19-year-old Guatemalan male presented with long-standing left lower limb abnormalities, initially suspected as Filariasis. The patient had recently migrated from Guatemala specifically seeking treatment for Filariasis. On physical examination, pronounced enlargement of both the phallus and scrotum was noted, along with palpable cystic masses, prompting clinical suspicion of severe lymphedema secondary to Filariasis. However, further examination revealed extensive masses affecting the thigh, pelvis, genitals, and lower leg, with associated clinical features indicative of NF1. Multiple café-au-lait macules were evident over the chest, back, and torso, with larger lesions around the lower left trunk. Additionally, multiple small nodules consistent with cutaneous neurofibromas were present. MRI showed extensive fluid-filled lesions throughout the pelvis and lower extremities, indicative of plexiform neurofibroma. Biopsy revealed spindle cells positive for S100. Genetic analysis revealed a pathogenic variant within the NF1 gene, confirming the diagnosis of NF1. Treatment with Selumetinib, a selective MEK inhibitor, was considered. However, Trametinib was initiated due to insurance constraints. Remarkably, significant improvement was observed after one month of treatment.
Discussion: 
The case highlights the diagnostic challenges encountered in identifying EN, particularly when it presents as Filariasis. NF-1 diagnostic criteria, including characteristic clinical features and genetic testing, play a vital role in accurate diagnosis. Imaging modalities such as MRI aid in confirming the diagnosis by revealing typical features of plexiform neurofibroma. Treatment options for EN, primarily surgical intervention, pose significant risks due to high risk of bleeding and the potential for recurrence. Although Selumetinib is approved only for pediatric population, Trametinib is a viable alternative as well, demonstrating its efficacy in improving symptoms.

AMA Research Challenge 2024 

Tackling Elephantiasis Neuromatosa Presented as Filariasis in an Adult - A Management Dilemma

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Abstract Title 

Teach Back, Don't Come Back: Reducing Readmissions Through Effective Discharge Communication

Background
Patient and caregiver education at the time of hospital discharge is critical transitioning care, but is often ineffective. Barriers to discharge communication can include diminished functional capacity due to illness, socioeconomic factors such as inability to afford new medications, limited understanding of the expected progression of symptoms, and schedule incompatibility between patient caregivers and hospital staff. Increasing the quality of communication between physician teams and patient families at the time of discharge has the potential to improve patient outcomes and reduce readmissions.

Case Presentation
Francesca (pseudonym) is an elderly woman with a history of stroke 15 years prior with residual speech and motor deficits. She is non-verbal and is cared for by her two daughters. She has presented to the emergency department several times in the past two weeks for altered mental status, and was incidentally found to have a positive urinalysis, which was treated with antibiotics 1 week prior.

She is brought by her daughter today due to concern for altered mental status. Physical exam is consistent with her documented baseline since the stroke. A review of her medical history shows a pattern of hospital admissions for non-specific mental status changes over the past 6-7 years and a primary care note documenting a diagnosis of vascular dementia 8 years prior. The team concludes that Francesca’s family may be interpreting fluctuations in her status as new illness, when they are more likely chronic sequelae of her underlying dementia.

The treating team briefly met with one of Francesca’s daughters during morning rounds, and explained that her symptoms were consistent with vascular dementia. She was discharged later that day. 

One month later, Francesca returned with both daughters due to mental status changes. Examination and imaging revealed no changes. One daughter recalled the prior admission, stating “When she was here one month ago, the doctors mentioned that this might be her new normal. I’m not really sure how to tell whether this is normal, or whether something concerning is going on.”

Discussion
This case illustrates many challenges of effective discharge communication: only one of the patient’s caregivers was present, the conversation was rushed due to morning rounds, and communication was delivered primarily by the physician, with little time devoted to soliciting the family’s concerns or questions. In this instance, the family’s awareness of the expected course of symptoms was incomplete, and resulted in an unnecessary readmission.


Teach Back, Don't Come Back: Reducing Readmissions Through Effective Discharge Communication

Background:
Diseases in elderly populations are commonly multifactorial due to multiple comorbidities and sedentary lifestyles. Proteus mirabilis is a highly motile opportunistic gram-negative facultative anaerobe in the intestinal tract. It primarily affects the urinary tract, but is also a rare cause of pneumonia seen in older patients with chronic lung disease and, occasionally, pericardial effusion. We present a case of an elderly male with hypoxia found to have pericardial effusion, lung atelectasis with proteus pneumonia, and recurrent sigmoid volvulus leading to multiple emergency department (ED) visits.

Case Presentation: 
A 68-year-old male with a history of smoking, chronic obstructive pulmonary disease (COPD), asthma, venous stasis, aspiration pneumonia, respiratory failure and recurrent sigmoid volvulus was brought to the ED from his assisted living facility with SpO2 of 80%, pH of 7.09, and pCO2 of 132.8 mmHg. Patient received supplemental oxygen and nebulizer treatment and further workup was done. Complete blood count showed red and white blood cells low at 3.97 and 3.63, respectively. CT with contrast of chest and abdomen showed left mainstem bronchus mucus plug with atelectasis and recurrent sigmoid volvulus. An urgent decompressive colonoscopy resolved his volvulus. Patient had severe respiratory acidosis post-op that required intubation given a failed bilevel positive airway trial. 

The patient had a cardiac arrest the following day and was resuscitated and emergent bedside pericardiocentesis for pericardial effusions causing cardiac tamponade (evident on emergent echocardiogram). The pericardial drain remained in place for 7 days due to continued high volume drainage (>80mL/day). Additionally, a bronchoscopy successfully removed the left bronchus mucus plug and a bronchoalveolar lavage in the left lower base showed proteus pneumonia. Cefepime was initially administered and then de-escalated to ceftriaxone 3 days later. Patient was discharged to a hospice facility to continue care. 


Discussion:
Multiorgan involvement can lead to poor prognosis given complexities of each organ system and concern of side effects from management of other systems. The symptoms of pericardial effusion and atelectasis were masked by the most obvious sigmoid volvulus on imaging. The multifactorial etiologies of hypoxia should be considered and appropriate workup should be done in a timely fashion. 

This case illustrates the importance of comprehensive workup in older populations with multiorgan diseases. Those populations with limited mobility are at significant risk of several multifactorial comorbidities that can lead to life-threatening emergencies without prompt and appropriate interventions.


The Red Herring Sigmoid Volvulus: Stealing Attention from Pericardial Effusion and Proteus Pneumonia

Introduction:

Nocardia are soil-borne, aerobic microorganisms, which are often causes of opportunistic infections in immunocompromised patients. There are 92 identified Nocardia species out of which 54 of them have been identified to infect humans, Nocardia beijingenesis being one of them. It can manifest as pulmonary, disseminated, or cutaneous infection. Early diagnosis and prompt treatment are vital in the overall prognosis of patients. We present a case of a young male with HIV who had Nocardiosis without travel history outside of the United States.

Case description:

A 37-year-old man, diagnosed with HIV two years ago and currently not on antiretroviral therapy, presented with flu-like symptoms and weight loss over the last two months and confusion for two days. The patient denied any international travel outside the United States. On presentation, although hemodynamically stable, he was found to have severe hyperkalemia, metabolic acidosis, and acute kidney injury. The patient underwent emergent hemodialysis. CT scan of the lungs without contrast showed multifocal pneumonia, suspicious for necrotizing pneumonia on the left with dense consolidation, cavitation, and air bronchograms with mild involvement of the right lung. CT head and MRI brain did not reveal any intracranial abnormalities. Imipenem-cilastin and minocycline were started initially along with atovaquone for Pneumocystis jiroveci pneumonia prophylaxis. Although blood cultures were negative, the aspergillus galactomannan assay was positive. Next-generation sequencing as well as the culture of bronchoalveolar lavage detected Nocardia beijingensis. The antibiotics were later tailored to ceftriaxone, minocycline, and linezolid to be continued for a minimum of three months, followed by monotherapy for at least six months which is to be guided by susceptibilities results in the outpatient setting. 

Discussion:

Nocardia, an aerobic, weakly gram-positive opportunistic bacteria, primarily affects immunocompromised individuals, including those with HIV. One of its less common species, Nocardia beijingensis, was initially reported in the US in 2014. This infection may present as pulmonary, cutaneous, or disseminated nocardiosis. Pulmonary nocardiosis, the most common form, manifests with chest pain, coughing, sputum production, and sometimes hemoptysis resembling tuberculosis, aspergillosis, or bacterial pneumonia. Skin infections by Nocardia beijingensis may present with cellulitis, draining lesions, or nodules. Dissemination occurs in about 45% of cases, commonly via the bloodstream, affecting various organs. The central nervous system is often involved, that presents with headaches, nausea, altered mental status, and seizures. Nocardia beijingensis, due to diagnostic complexities, is associated with numerous

complications, notably abscesses in the lungs, skin, brain, adrenal glands, subretinal space, and muscles. It can also lead to rare complications like superior vena cava syndrome and cardiac tamponade. Due to its high mortality rate, early diagnosis is crucial but challenging due to nonspecific symptoms. Diagnosis involves gram staining, modified acid-fast staining, and cultures from clinical specimens. Advanced molecular techniques such as gene sequencing of the 16SrRNA, PCR, and restriction gene analysis are also commonly used for species identification. Although trimethoprim-sulfamethoxazole (TMP-SMX) is a common treatment, resistance has led to a preference for combination therapy, especially in severe, disseminated cases, or those with central nervous system involvement. Antibiotic susceptibilities vary among Nocardia species, with many responsive to TMP-SMX, ceftriaxone, minocycline, and linezolid. The duration of treatment, usually lasting 6 to 12 months is determined on expert recommendations as there are no trials establishing a definitive timeframe. TMP-SMX also offers prophylaxis to Nocardia infections which is beneficial as it is commonly used in HIV patients for prophylaxis of pneumocystis infections. 

The unexpected arrival: Nocardia Beijingensis in a patient with no travel history​

The Uncommon Journey of a Jaundiced Patient
Ashley Dababneh DO PGY2, Radhika Garimella MD PGY1, David Minter DO

Stauffer syndrome is an uncommon paraneoplastic syndrome associated with renal cell carcinoma and is characterized by hepatic dysfunction without metastasis. Due to the rarity of its occurrence, this case should be reported to broaden a physician's differential diagnosis for hyperbilirubinemia and jaundice to correctly manage the patient. A 55-year-old male with past medical history of traumatic brain injury,cerebrovascular accident with residual left-sided weakness and seizure disorder was sent to the emergency department from his assisted living facility due to 5 days of jaundice and markedly elevated bilirubin discovered by his primary physician. Patient denied any symptomology. The physical exam was significant for jaundice and scleral icterus. Initial labs in the ER showed total bilirubin of 8.7 with a direct bilirubin of 6.67 and indirect bilirubin of 2.0 and alkaline phosphatase was 540. Computed tomography of the abdomen/pelvis demonstrated mild gallbladder thickening and intrahepatic biliary dilatation with cholelithiasis and common bile duct prominence with no obvious obstructing stone or mass. It also showed signs consistent with low-grade colitis and a mass-like attenuation of the right kidney. Ultrasound of the abdomen displayed non-specific gallbladder distention, gallstones and biliary sludge without wall thickening. Gastroenterology was consulted and further investigation showed normal gamma glutamic transferase, carbohydrate antigen 19–9, antimitochondrial antibody, and smooth muscle antibody levels. Magnetic resonance cholangiopancreatography showed a distended gallbladder with gallstones and choledocholithiasis. It also displayed a mixed signal mass measuring 3.3 X 3.8 X 3.3 cm at the mid pole of the right kidney concerning for a neoplastic process. Endoscopic retrograde cholangiopancreatography was completed, removing an obstructing gallstone and sphincterotomy was performed. The patient was scheduled for cholecystectomy after the obstructing gallstone was removed, however, due to the rising direct bilirubin, alkaline phosphatase and repeat imaging showed no signs of filling defects, the surgery was postponed. The renal mass is initially planned to be followed up outpatient, but urology was consulted due to the concern for possible Stauffer syndrome and the patient underwent a right nephrectomy. Throughout the remainder of his hospitalization his bilirubin trended down leading to improvement of his jaundice and his pathology report showed clear-cell renal carcinoma. 
This case demonstrates the need to expand was differential diagnosis and to not exclude incidental findings on imaging. The jaundice variant presentation of the syndrome is rare, but a necessary addition to the differential the patient with a renal mass concerning for neoplasm and hyperbilirubinemia.

The Unexpected Journey of a Jaundiced Patient

These Antibiotics Just Aren’t Working: Fever of Unknown Origin and an Uncommon Culprit

Kajol Patel MD, WellStar MCG Health Department of Neurology; Nicholas Fuchs BBA Medical College of Georgia; Alexander Warner MD, WellStar MCG Health Department of Internal Medicine; Derek Backer MD MPH, WellStar MCG Health Department of Internal Medicine

Background: Fever of unknown origin (FUO) is defined as a periodic temperature of at least 38.4°C lasting longer than 3 weeks, with a diagnosis remaining uncertain after 1 week of evaluation. The potential etiologies of FUO are diverse, which adds to the challenge of determining the cause. We report a case of FUO that ultimately led to the diagnosis of a very rare cause of fever in adults: Adult-onset Still’s disease (AOSD). Cases like this pose a diagnostic dilemma due to the hesitancy to withhold antimicrobials in the presence of a persistent fever. However, despite the lack of an accepted standard workup for FUO, a thorough and methodical evaluation increases the likelihood of arriving at a treatable diagnosis.

Case Description: A 41-year-old female with a past medical history of psoriatic arthritis presented to the hospital after more than 2 weeks of undulating fevers and bilateral leg pain. She has a past history of psoriatic arthritis and a remote history of IV drug use reportedly in remission. She had previously been treated with antibiotics but no source was clearly identified. Her review of systems included pertinent positives such as odynophagia, salmon colored rash which worsened with the fevers, polyarthralgia, and negatives such as lack of cough or shortness of breath, diarrhea, or dysuria. She had a neutrophilic leukocytosis, markedly elevated CRP and ESR, and markedly elevated ferritin. After ruling out alternatives such as bacteremia, endocarditis, occult abscess, thrombosis or other connective tissue diseases, it was noted that the patient fulfilled 3 major and 4 minor Yamaguchi criteria and the diagnosis of Adult-onset Still’s Disease was made.

Case Discussion: Adult-onset Still’s disease is a very rare cause of fever of unknown origin. Its symptoms include inflammatory arthralgia, a salmon-colored rash, sore throat, lymphadenopathy, and hepatosplenomegaly. AOSD is estimated to occur in 0.16-0.4 per 100,000 persons. Due to its rarity and symptom overlap with other conditions, diagnosing AOSD can often take several months.
This case highlights AOSD as a rare but debilitating cause of FUO. If left untreated, AOSD can lead to significant morbidity and irreversible organ damage. Our case demonstrates the importance of conducting an exhaustive evaluation for alternative causes of FUO before initiating steroids or disease-modifying antirheumatic drugs. When the correct therapy is initiated, the response can be both dramatic and rewarding.

These Antibiotics Just Aren't Working: Fever of Unknown Origin and an Uncommon Culprit


Background:
Cameron lesions refer to linear ulcers or erosions found on the crests of mucosal folds near the diaphragmatic impression in individuals with significant hiatal hernias. Bleeding from this lesion can cause significant iron deficiency anemia (IDA). Here, I will discuss a case report of an elderly woman who presented with syncope and later was found to have IDA due to Cameron’s lesion associated with large hiatal hernia.
Case Presentation:
An 86 years old, Caucasian female with the history of HTN, meningioma, CVA, seizure presented to the ER with sudden loss of consciousness. During extensive diagnostic workup at ER, she was found alert, oriented to time and place with normal physical and systemic examination. Her laboratory report showed a Hb level of 10.8g/dL with a hematocrit count of 30.1%. CT scan of head without contrast was normal. Chest X-ray showed no acute abnormality except the presence of a large hiatal hernia.
As she has a history of seizure disorder and her anti-epileptic medication was at subtherapeutic range (Dilantin 4.5), a neurologic consultation was requested. Therefore, she underwent an EEG, and it showed normal findings. Unfortunately, she became weak over the following day and her blood report showed a significant drop in Hb% (Hb 7.3g/dL). Hence, she was scheduled for an urgent upper GI endoscopy.
EGD report showed normal hypopharyngeal apparatus with normal esophagus though there was some tortuosity in distal aspect. Partially intrathoracic stomach (35cm-46cm) was noted with retroflexed view of fundus and cardia. A Cameron’s lesion was found along the mucosal folds of gastric fundus. No active bleeding was found. She was diagnosed with hiatal hernia (11cm) with Cameron’s lesion. The patient was discharged with PPI, oral iron tablet, with her regular medications. On her follow up appointments, she showed excellent response to PPI and her Hb% improved with the treatment.
Discussion:
Cameron lesions may go unnoticed and might be less frequently reported due to the need for a keen sense of suspicion for diagnosis, familiarity with endoscopic visuals, and a thorough examination of the hiatus hernia (HH). Cameron lesions have been reported in up to 5% of patients with HH and up to 13.7% of patients with a large HH (>5cm). This 86 years old lady had a large silent hiatal hernia without any gastric reflux symptoms that ultimately resulted in the development of Cameron’s lesion and subsequent bleeding of the lesion led to the development of IDA.


Unveiling the Mystery: Exploring Syncope in an Elderly Woman and the Discovery of Cameron's Lesion in the Stomach with a Large, Silent Hiatal Hernia: A Case Report

Background
Lacunar infarcts are a type of ischemic stroke caused by the occlusion of small penetrating arteries that supply the subcortical deep brain structures such as the basal ganglia, thalamus, white matter of the internal capsule and pons. These arteries are susceptible to blockages due to conditions like hypertension and diabetes. Typical lacunar syndromes include pure motor hemiparesis, pure sensory, ataxic-hemiparesis, dysarthria-clumsy hand and sensory motor with minimal cortical findings. An atypical lacunar infarct can affect non-traditional brain regions and therefore present with unusual symptoms, challenging diagnosis and requiring careful consideration in clinical evaluation and management strategies.

Case Presentation
A 75-year-old male with no significant past medical history presented to the ED with visual changes and dizziness that began a day prior. He reported lateral and downward deviation of the right eye and difficulty ambulating due to dizziness. In the ED, his blood pressure was 230/19 mmHg. Administration of amlodipine 5 mg was unsuccessful in reducing his blood pressure. A CT head with and without contrast, and a CTA of the head and neck, ruled out acute processes. Ophthalmology's differential included neurological causes involving the optic pathway to the lateral geniculate and conditions such as glaucoma. Neurology noted possible 3rd nerve involvement and ataxia, indicating the need to rule out a brainstem lesion. Significant adduction issues of the left eye and a positive Romberg’s sign were also observed. An MRI performed 3 days later revealed an acute lacunar infarct in the dorsal pons affecting the medial longitudinal fasciculus, alongside a mild burden of chronic small vessel ischemic changes in the periventricular and deep cerebral white matter and pons. 

Discussion 
In the presented case, the patient's symptoms of visual changes, dizziness, and neurological deficits, initially perplexing with normal CT and CTA findings, ultimately led to the discovery of an atypical lacunar infarct in the dorsal pons. The involvement of the medial longitudinal fasciculus (MLF) explains the patient's distinctive clinical features, including lateral and downward deviation of the right eye, ataxia, and third nerve palsy. These findings underscore the variability in lacunar infarct presentations, necessitating a high index of suspicion and comprehensive evaluation, especially when initial imaging studies are inconclusive. Chronic small vessel ischemic changes observed on MRI highlight the cumulative vascular burden in the brain, suggesting a predisposing condition for the acute lacunar event. Management involves controlling vascular risk factors to prevent further infarcts and addressing specific neurological deficits through targeted therapies and rehabilitation. This case emphasizes the importance of detailed clinical assessment, multimodal imaging, and specialist consultation in unraveling atypical lacunar infarcts, ensuring appropriate diagnosis and management for optimal patient outcomes.




Unveiling the Unusual: A Case of Atypical Lacunar Infarct in a 75 year old male

Background
Scurvy is thought to be a malady of the past; however, cases still arise in modern populations susceptible to vitamin deficiencies. Vitamin C deficiency notoriously presents as easy bruising, gingivitis, arthralgias, and corkscrew hair. Instead, this disease can mimic signs of vasculitis, which may lead to a delay of diagnosis. For instance, pulmonary arterial hypertension (PAH) is a rare complication of vasculitis, thought to arise from direct involvement of the pulmonary vasculature. To the present authors’ knowledge, the development of PAH in a case of scurvy has not been reported in modern publications. Here we present a case of scurvy in a young adult who presented with symptoms of vasculitis and associated PAH.
Case Presentation
A 30-year-old male with no medical history living in a major metropolitan city presents with myalgias, weakness, petechiae and profound shortness of breath. He has a history of heavy alcohol use in the months prior to admission but recently quit. He reports no drug use or recent bariatric surgery. On presentation, his vitals were stable. On examination, he has non-palpable red-purplish, reticular-appearing discoloration of skin in LE. Lab findings and peripheral blood smear showed macrocytic normochromic anemia with slight anisocytosis. Echocardiogram showed evidence of PAH with dilated right atrium and ventricle associated with elevated RVSP.
There was concern for systemic vasculitis, but the laboratory workup, skin biopsy and immunofluorescence were negative. Urinalysis was positive for bilirubin and urobilinogen but negative for protein and casts. There was no improvement after Prednisone for 7 days. Due to the patients history of heavy alcohol use and negative vasculitis workup we requested a Vitamin C level which was undetectable. After supplementation, there was complete resolution of all symptoms. Hemoglobin returned to normal limits and PAH resolved.
Discussion
This case highlights vasculitis with signs of PAH as a rare representation of scurvy. The similarity poses a diagnostic challenge for healthcare providers as vitamin deficiencies are uncommon in major metropolitan cities. When confronted by a patient who is susceptible to vitamin deficiencies - such as those with a history of heavy alcohol use, nutritionally restricted diets, or psychiatric illness - physicians should not discount the diagnosis of Scurvy. By documenting this case, we hope to provide physicians with evidence to support the possibility of vitamin C deficiency during vasculitis workup.

Vitamin Sea: An Unorthodox Presentation of Scurvy Through Vasculitis and Pulmonary Hypertension

Background
Vasculitis, first described in 1866, describes a group of rare conditions that damage blood vessels leading to multiple organ dysfunction, affecting about 0.01% of the world’s population. Once experienced in practice, is a disease not forgotten. I will present a complicated case of C-ANCA/PR3 vasculitis.
Case Presentation
A 57-year-old female with a 40-pack year history of tobacco use, presented with complaint of fevers, malaise, and a painful purpuric rash, occurring after an earache one week prior. The rash started on her feet, later involving her torso and scalp. Four days after the rash started, she developed odynophagia with oropharynx ulcers.

Labs were consistent with acute kidney injury, anemia, elevated CRP, and sedimentation rate. She had proteinuria, hematuria and her infectious workup was negative. Initial skin biopsy showed a non-diagnostic vascular fluorescence pattern. By hospital day four, the C-ANCA/PR3 labs were positive. Initial chest CT showed diffuse tiny nodular infiltrate with larger irregular ground glass and nodular opacities and no pulmonary embolism. On day four, chest x-ray showed worsening severe diffuse bilateral alveolar lung disease, concerning for diffuse alveolar hemorrhage. 

She developed worsening dyspnea and escalating oxygen needs, requiring transfer to the critical care unit for respiratory failure. With positive C-ANCA/PR3 and her clinical presentation, she received pulse dose steroids with solumedrol 1,000mg for five days. She later had a cyclophosphamide infusion after developing an allergic reaction to rituximab. She required surgical debridement of her wounds and inpatient rehab, eventually being discharged home one month later with reduced but functioning kidneys. Although she was on DVT prophylaxis during hospitalization, she was readmitted two days afterwards with high-risk saddle pulmonary embolism requiring embolectomy.
Discussion
Our patient received pulse dose steroids four days after admission. With high clinical suspicion, it is appropriate to treat without biopsy results. Treatment with steroids, rituximab, and/or cyclophosphamide are common. She required surgical debridement of wounds, inpatient rehab and later an embolectomy. ANCA-associated vasculitis has a two-threefold increased risk of developing a thrombotic event. 

The gold standard for diagnosing vasculitis is kidney, lung, and/or skin biopsies. Due to her clinical picture and bleeding risk, we did not biopsy her kidneys or lungs. Her initial skin biopsy was non-specific, which is an inherent problem with skin sampling. Recognizing the history and physical exam of vasculitis is important for any specialty, allowing prompt laboratory testing, tissue biopsy, and coordination of the multiple specialties involved in the management of vasculitis.

When Earache’s Turn to Diffuse Alveolar Hemorrhage

Infantile Hyaline Fibromatosis Syndrome (also known as IHFS or Inherited Systemic Hyalinosis or ANTXR2-Related Hyaline Fibromatosis Syndrome) is a genetic condition characterized by deposition of hyaline in the skin, muscle, and viscera. IHFS is inherited in an autosomal recessive manner and characterized by mutations in the ANTXR2 (Anthrax Toxin Receptor 2) gene, resulting in the abnormal deposition of hyaline material in skin and organs. Symptoms can subsequently develop in multiple organ systems including rheumatological (progressive joint contractures), musculoskeletal (severe motor disability), immunological (increased susceptibility to infections), dermatological (thick, rough skin, hyperpigmented macules, nodules, and papules), and gastrointestinal (failure to thrive, nausea, vomiting, protein-losing enteropathy, failure to thrive). Complications from these can result in lifelong debilitation and early death.
Per FDA definition, it meets criterion for an ultra-rare condition, affecting fewer than 1 in 1,000,000 births throughout the United States and with fewer than 100 total cases reported worldwide. 

Here we present the case of a 4-month-old with a complicated medical history including painful extremity contractures, global developmental delay, neck hemangioma, and feeding intolerance who initially presented to our institution for abdominal distension. The multi-systemic, progressively worsening nature of her symptoms prompted consultation to inpatient pediatric genetics. Per their recommendation, rapid whole-genome sequencing (rWGS) was performed through Rady Children’s Hospital Institute for Genomic Medicine® in San Diego with the help of the Fabric GEM artificial intelligence (AI) tool. This revealed a homozygous pathogenic variant c.652T>C; P.Cys218Arg in the ANTXR2 gene consistent with IHFS.

This case was significant not only for its extreme rarity, but also its early manifestation of symptoms, wide range of affected body systems, and severity of symptoms, which together present a fascinating diagnostic dilemma for future clinicians that should be taken into consideration. It also highlights the increasing utility of AI-assisted rapid whole-exome sequencing as a diagnostic tool for medically complex patients with hitherto unknown multisystemic hereditary conditions.


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Tackling Elephantiasis Neuromatosa Presented as Filariasis in an Adult - A Management Dilemma

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