United States

Abstract Title
Unveiling the Unusual: Adrenoleukodystrophy and Paraphilia - A Rare Case Study
Background 
X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder affecting approximately 1 in 21,000 males, primarily impacting the white matter of the nervous system and the adrenal cortex. The cerebral forms of ALD, including childhood, adolescent, and adult variants, typically present initially with symptoms such as hyperactivity or inattention, followed by a progressive decline in cognitive, motor, visual, and auditory functions. Here, we present the case of a 22-
year-old male with ALD, who exhibits paraphilia along with neuropsychiatric manifestations of ALD, a unique presentation that has been scarcely documented.
Case Presentation 
A 22-year-old male with a medical history significant for adrenoleukodystrophy, seizure disorder, Asperger syndrome, Attention-Deficit/Hyperactivity Disorder, progressive hearing and visual loss was admitted due to altered mental status. His adoptive mother reported developmental delays and social cue difficulties since childhood, with a decline in functionality beginning in October 2023. Neuro-ophthalmological evaluation for progressive vision loss, led to a subsequent MRI which showed diffuse periventricular and subcortical white matter hyperintensities involving parietal, occipital, temporal, and frontal regions. Elevated very long chain fatty acids (VLCFA) confirmed ALD diagnosis. A month after admission, he developed compulsive rectal picking and digital manipulation leading to rectal bleeding. Psychiatry suggested that it could be due to either OCD-type skin picking or a gratifying sexual compulsion. The nursing staff reported frequent episodes of uncontrollable impulses for aggressive rectal digital manipulation ending in ejaculation, over the past three months, necessitating the use of restraints and mittens for his safety. Despite treatments including Paroxetine, risperidone, and 
anti-androgens, no improvement was noted. Guanfacine was later initiated to enhance frontal inhibition, yet efficacy remained limited. Upon discharge, transitioning to a group home was planned.
Discussion
ALD is a disorder in which defective beta-oxidation leads to the accumulation of very long-chain fatty acids in peroxisomes. It typically presents with neurobehavioral disturbances starting in childhood. The patient&#39;s behavioral symptoms began in childhood but were never formally evaluated. We believe an undiagnosed ALD might have contributed to his symptoms. ALD usually leads to hyposexuality due to adrenal insufficiency. However, our patient exhibited recurrent rectal digital stimulation suggesting impulsivity and disinhibition, which is a distinctive presentation. We hypothesize that the patient&#39;s paraphilia may be linked to his frontal lobe 
involvement. No evidence of adrenal insufficiency was observed in his labs. We emphasize the importance of considering ALD as a differential diagnosis when evaluating patients with neuropsychiatric disturbances, as it is a progressive and debilitating condition

AMA Research Challenge 2024 

Unveiling the Unusual: Adrenoleukodystrophy and Paraphilia - A Rare Case Study

Abstract Title
Unveiling the Unusual: Adrenoleukodystrophy and Paraphilia - A Rare Case Study
Background 
X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder affecting approximately 1 in 21,000 males, primarily impacting the white matter of the nervous system and the adrenal cortex. The cerebral forms of ALD, including childhood, adolescent, and adult variants, typically present initially with symptoms such as hyperactivity or inattention, followed by a progressive decline in cognitive, motor, visual, and auditory functions. Here, we present the case of a 22-
year-old male with ALD, who exhibits paraphilia along with neuropsychiatric manifestations of ALD, a unique presentation that has been scarcely documented.
Case Presentation 
A 22-year-old male with a medical history significant for adrenoleukodystrophy, seizure disorder, Asperger syndrome, Attention-Deficit/Hyperactivity Disorder, progressive hearing and visual loss was admitted due to altered mental status. His adoptive mother reported developmental delays and social cue difficulties since childhood, with a decline in functionality beginning in October 2023. Neuro-ophthalmological evaluation for progressive vision loss, led to a subsequent MRI which showed diffuse periventricular and subcortical white matter hyperintensities involving parietal, occipital, temporal, and frontal regions. Elevated very long chain fatty acids (VLCFA) confirmed ALD diagnosis. A month after admission, he developed compulsive rectal picking and digital manipulation leading to rectal bleeding. Psychiatry suggested that it could be due to either OCD-type skin picking or a gratifying sexual compulsion. The nursing staff reported frequent episodes of uncontrollable impulses for aggressive rectal digital manipulation ending in ejaculation, over the past three months, necessitating the use of restraints and mittens for his safety. Despite treatments including Paroxetine, risperidone, and 
anti-androgens, no improvement was noted. Guanfacine was later initiated to enhance frontal inhibition, yet efficacy remained limited. Upon discharge, transitioning to a group home was planned.
Discussion
ALD is a disorder in which defective beta-oxidation leads to the accumulation of very long-chain fatty acids in peroxisomes. It typically presents with neurobehavioral disturbances starting in childhood. The patient's behavioral symptoms began in childhood but were never formally evaluated. We believe an undiagnosed ALD might have contributed to his symptoms. ALD usually leads to hyposexuality due to adrenal insufficiency. However, our patient exhibited recurrent rectal digital stimulation suggesting impulsivity and disinhibition, which is a distinctive presentation. We hypothesize that the patient's paraphilia may be linked to his frontal lobe 
involvement. No evidence of adrenal insufficiency was observed in his labs. We emphasize the importance of considering ALD as a differential diagnosis when evaluating patients with neuropsychiatric disturbances, as it is a progressive and debilitating condition

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Background: Cases of incarcerated gravid uterus (IGU) are quite rare at about 1 in 3000 pregnancies. IGU is defined as the entrapment of the gravid uterus between the pubic symphysis and the sacral promontory. Due to compression of adjacent structures, symptoms of IGU present non-specifically as urinary retention, dysuria, abdominal pain, and constipation, often causing this condition to be misdiagnosed. Reduction of an IGU proves to be crucial as serious complications such as urinary tract obstructions, urinary tract infections, renal failure, fetal growth restriction, fetal demise, and uterine wall rupture may occur. 

Case Presentation: A 34-year-old G2P1 woman at 12 3/7 weeks presented with difficulty urinating, difficulty stooling, and a feeling of incomplete emptying. At the patient’s first visit a week prior, it was thought that she had a urinary tract infection as it proved to be the most likely cause of her symptoms; however, cultures were negative and completion of the antibiotic treatment provided no relief. The patient was reevaluated the following week when an anterior displacement of the cervix on speculum exam was noted. This led to the diagnosis of an IGU, pivoting the management to passive and active reduction techniques. A catheter was placed to relieve the patient’s bladder. 2200 cc of urine were drained after which the patient reported significant relief of pelvic pressure. The patient was placed in the knee/chest position for two hours before a manual replacement was attempted. The uterus was lifted from the cul-de-sac, and the patient was sent home with the foley in case the incarceration recurred. She returned to the clinic 10 days later for a voiding trial after removal of the foley which proved to be successful. The patient is continuing with her pregnancy without any issues.

Discussion: IGU often presents with urinary symptoms and can be conservatively managed by draining of the bladder, non-invasive methods such as knee-chest, and manual reduction if none of these efforts are successful. Early identification and management of an IGU is crucial for a safe pregnancy. Due to its rarity, it is often not considered when patients present with non-specific or primarily urinary symptoms. Cases are often misdiagnosed, leading to a delay in treatment and resolution of symptoms for patients. In this case, we note that the presentation of an IGU can easily be attributed to other causes and that if identified properly, can be reduced earlier in the pregnancy to avoid serious complications.

A Case of an Initially Misdiagnosed Incarcerated Gravid Uterus (IGU)

Current research emphasizes that ectopic pregnancies (EPs) are quite rare, with roughly 1-2% incidence in typical pregnancies and 2-5% in pregnancies resulting from Assisted Reproductive Technology. Non-tubal EPs (NTEPs) are significantly less common with an incidence of <10% out of all ectopic pregnancies. This study includes seven patients evaluated for NTEP treatment from January 2017 to August 2023. The team assessed risk factors while conducting an in-depth analysis of lab values, ultrasounds, complications, demographics, and outcomes. Analysis shows that of the 7 NTEP patients, 1 patient had a low-implantation intrauterine pregnancy (IUP), 5 patients had cesarean ectopic pregnancies, and 1 patient had an upper cervical canal ectopic pregnancy. 5 of the NTEP patients required in-patient treatment due to complications. Treatment options included: Transvaginal US-guided MTX injection, dilatation and curettage (D&C), systemic methotrexate (MTX), uterine artery embolization (UAE), and manual vacuum aspiration (MVA). The limited data pool for this condition and lack of consensus on best treatment for NTEP indicates the need for further research, especially less invasive options for patients who desire fertility preservation. By demonstrating that this approach is applicable in a variety of treatment settings and NTEP patient scenarios, our study verifies consistency with prior research studies on transvaginal MTX injection for NTEP management.

A Case Series on Non-Tubal Ectopic Pregnancies with Emphasis on Transvaginal US-Guided Methotrexate Injection

Fitz-Hugh-Curtis syndrome is a rare but clinically significant complication of pelvic inflammatory disease. Patients characteristically present with pleuritic right upper quadrant pain secondary to the spread of pelvic inflammatory disease to the liver capsule. Additional clinical manifestations include cervicovaginal discharge, pelvic pain, cervical motion tenderness, and adnexal tenderness. This syndrome primarily affects women in their reproductive years and is classically linked to sexually transmitted infection with Chlamydia trachomatis and Neisseria gonorrhoeae. Long-standing disease may not manifest clinically; thus, diagnosis typically involves a combination of clinical evaluation and imaging modalities. When the diagnosis is not yet clear and complications of pelvic inflammatory disease are present (i.e., hydrosalpinx), diagnostic laparoscopy is indicated for direct visualization. The classic “violin-string” adhesions visualized on laparoscopy connecting the anterior hepatic surface to the abdominal wall are pathognomonic of the disease.

We present an atypical case of Fitz-Hugh-Curtis syndrome with a 26-year-old female who presented with long-standing dysmenorrhea, bilateral hydrosalpinx, and no prior history of sexually transmitted infection or pelvic inflammatory disease. She also lacked the characteristic right upper quadrant pain, which can sometimes be the only clinical manifestation of the disease. The diagnosis of Fitz-Hugh-Curtis syndrome was made based on laparoscopic visualization of extensive “violin-string” adhesions involving the liver, left fallopian tube, uterus, and peritoneum. Laparoscopic adhesiolysis and bilateral salpingectomy was performed, and the patient had an uncomplicated postoperative course.

Fitz-Hugh-Curtis syndrome can pose a diagnostic challenge as it has a spectrum of possible clinical manifestations. As seen in this case, laparoscopy revealed extensive adhesive disease and tubal inflammation yet, the patient did not meet the minimum criteria for pelvic inflammatory disease or complain of right upper quadrant pain at any time during the disease course. Obtaining imaging of the abdomen and pelvis via ultrasound and computed tomography can be particularly valuable in establishing the diagnosis and ruling out other pathology; however, laparoscopy is the gold-standard of diagnosis. Young, sexually active women presenting to the hospital with pelvic pain and bilateral hydrosalpinx should raise high clinical suspicion for Fitz-Hugh-Curtis syndrome, regardless of sexual history or clinical manifestation of perihepatitis. Early diagnosis and treatment with laparoscopy can help patients avoid the pain and suffering that can persist for years, as seen in this case. This case also stresses the importance of treating sexually transmitted infection and pelvic inflammatory disease early on before it progresses to chronic pelvic pain and infertility.

Fitz-Hugh-Curtis Syndrome and Bilateral Hydrosalpinx in the Absence of Sexually Transmitted Infection: A Case Report

Abstract Title:
The Hidden Threat: Understanding the Significance of Tubo-Ovarian Abscess in Women’s Health
Background:
A tubo-ovarian abscess (TOA) is a serious and potentially life-threatening inflammatory mass involving the fallopian tube, ovary, and other pelvic organs, often resulting from a pelvic inflammatory disease (PID). TOAs are more often caused by Escherichia coli, aerobic streptococci, Bacteroides fragilis, and Actinomyces israelii, while Neisseria gonorrhoeae and Chlamydia trachomatis are rarely found from within the abscess cavity. The signs and symptoms can present as an ectopic pregnancy, appendicitis, or ovarian torsion. Aggressive medical or surgical treatment is often required to prevent rupture and/or sepsis. This infection typically occurs in sexually active women, particularly those with a history of STIs, intrauterine device use, or PID.
Case Presentation:
A 37-year-old female patient, with a history of spontaneous abortions and dyspareunia, presented to the ED with right lower quadrant (RLQ) pain for three days and was diagnosed with COVID-19 on arrival. Her last menstrual period was one month ago, and she denies history of any STI or PID. The pain came on suddenly, was constant, stabbing in nature, rated as 10/10, mostly in the RLQ radiating to the back. She tried over-the-counter pain medications without any relief. Laying still makes the pain tolerable, but movement makes it worse. She also described having a mild burning sensation with urination for the past three days, but denied any blood in the urine, changes in frequency, urgency, vaginal discharge or odor.
A pelvic ultrasound showed bilateral hemorrhagic ovarian cysts with a recent rupture. Further imaging via CT showed concern for tubo-ovarian abscesses given associated hydrosalpinx. She was started on vancomycin, but she experienced a systemic reaction, prompting a switch to ceftriaxone and meropenem. She went into an emergent exploratory laparotomy with a right salpingo-oophorectomy and drainage of a left TOA.
Low molecular weight heparin was started for anticoagulation and antibiotics were continued. Neisseria gonorrhoeae was identified in the peritoneal pus as the causative organism. The patient was afebrile, hemodynamically stable, and discharged after five days with a prescription for levofloxacin and metronidazole for outpatient treatment. At the two-week follow-up, the surgical scar healed well, and the antibiotics were completed with no onset of new symptoms.
Conclusion: This case highlights the importance of thorough evaluation and multidisciplinary management involving hospitalists, ED physicians, and gynecologists in managing TOAs. Identifying the causative organism is crucial for targeted antibiotic coverage, preventing surgical site infections, and addressing potential bacterial growth. TOA cases can vary and considered in differential diagnoses.

The Hidden Threat: Understanding the Significance of Tubo-Ovarian Abscess

Small round blue cell tumors are rare, aggressive tumors that are uncommon in pediatric females and are uncommonly found outside the abdomen. A 9-year-old female with intracranial left frontal high grade small round blue cell sarcoma underwent left frontal craniotomy with gross total resection. The lesion was highly vascularized, continuously bled during surgery, and a large branch of the anterior cerebral artery had to be coagulated. A month later, the patient began proton beam radiation therapy; after 2 weeks of treatment, she noticed declining vision and memory. Exam showed a visual acuity of 20/200 in both eyes, moderate dyschromatopsia, bilateral central scotoma, and bilateral temporal optic nerve atrophy. Potential differential diagnoses for this case include vascular insult to the anterior cerebral arteries and their branches which supply the optic chiasm, elevated intracranial pressure prior to resection, side effects of radiation therapy, or malignancy recurrence and/or infiltration.

High Grade Small Round Blue Cell Sarcoma and Unexplained Bilateral Optic Atrophy

Title: Young and facing retinopathy: a warning sign of deeper health issues? 

Authors: Yasseen A. Amellal BA, Erik R. Rosas BA, Debby Song BA, Christopher B. Everett MD

Background: Severe diabetic retinopathy at a young age often reflects a broader challenge in the management of systemic diseases in socioeconomically disadvantaged populations. This case report aims to discuss the potential barriers through the challenges faced by a young patient with severe diabetic disease.

Case presentation: A 21-year-old woman reported to the emergency room with multiple severe systemic diabetic complications. On arrival, she endorsed severe diabetic retinopathy and other systemic complications such as diabetic gastroparesis, end stage renal dysfunction, and diabetic left foot ulcers complicated by osteomyelitis, requiring toe amputation. Funduscopic exam revealed right eye retinal neovascularization, macular edema, and tortuous venous bleeding. On chart review, an unfortunate pattern of inability to access adequate transportation, lack of insurance and inadequate follow up by providers was observed. These events resulted in multiple missed appointments. As such, the ocular injections for her diabetic retinopathy were often delayed several months beyond the recommended standard of care, leading to preventable deterioration in her vision. 

Discussion: This case underscores the interconnectedness of barriers to healthcare and the poor prognosis of systemic diseases that require regular management, like diabetic retinopathy. Early intervention and regular check-ups are crucial in mitigating severe complications of systemic disease such as diabetic retinopathy. Strategies must be developed to aid patients who frequently miss appointments. In the near future, new medication gene trial therapies could be a critical factor in addressing these challenges.

Young and Facing Retinopathy: A Warning Sign of Deeper Health Issues?

Abstract Title
Extensive Pneumorrhachis Using Loss-of-Resistance to Air Technique During Implantation of a Spinal Cord Stimulator

Background
Pneumorrhachis (PR) is a rare condition characterized by the presence of air within the spinal canal, which can be either intradural or extradural. Typically, PR is asymptomatic and self-resolving, but it can occasionally present with neurological symptoms. Most cases of PR are iatrogenic, resulting from procedures such as epidural injections, lumbar punctures, or surgical interventions. This case report discusses a symptomatic epidural PR following the implantation of a spinal cord stimulator (SCS) using the loss-of-resistance to air (LOR-air) technique.

Case Presentation
A 78-year-old female with a history of scoliosis, sciatica, hypertension, and hyperlipidemia presented with severe lower back pain and bilateral hip pain radiating to her legs and feet following an SCS exchange procedure. Despite intravenous pain medications, her pain persisted. CT imaging revealed significant air volume in the posterior central canal at T12-L1, causing moderate compression of the thecal sac at L2, and extending into the left psoas muscle. Upon examination, the patient was neurologically intact but exhibited significant pain and hypersensitivity in the lower extremities. Laboratory results were within normal limits. The patient was treated non-operatively, with the air expected to resorb over time. She made a full recovery and resumed use of her SCS.

Discussion
This case underscores the potential risks associated with the LOR-air technique in spinal procedures. The introduction of air into the epidural space can act as a space-occupying lesion, causing significant pain and neurological symptoms. While both LOR-air and LOR-saline techniques are used to locate the epidural space, the LOR-air technique poses a unique risk of PR, which is not seen with saline. Despite the rarity of symptomatic PR, the potential for severe complications warrants a preference for the LOR-saline technique in clinical practice to minimize risk. This case highlights the importance of careful technique selection in spinal procedures to avoid complications such as pneumorrhachis. The LOR-saline technique should be preferred over LOR-air to reduce the risk of air introduction into the epidural space. Although rare, practitioners should be aware of the potential for symptomatic epidural PR and take appropriate precautions.


Extensive Pneumorrhachis Using Loss-of-Resistance to Air Technique During Implantation of a Spinal Cord Stimulator

Background
Hallux valgus is a prevalent foot deformity characterized by lateral deviation of the great toe and medial deviation of the first metatarsal. Traditional corrective surgeries often involve osteotomies and soft tissue procedures, which may not fully address the underlying structural instability, particularly at the tarsometatarsal (TMT) joint. The Lapiplasty procedure has emerged as an innovative surgical approach that corrects the hallux valgus deformity by realigning the metatarsal in three planes and fusing the first TMT joint. While this technique has shown
promising results in deformity correction and stability, it can introduce new challenges, such as intercuneiform instability. In this paper, we will discuss the case report of a patient who underwent Triplanar TMT Arthrodesis (Lapiplasty) and developed an uncommon complication known as intercuneiform instability.
Case Presentation
Our patient was a 78-year-old male (body mass index 26.91 kg/m2) with a history of
osteoarthritis, BPH, and HLD who presented with right foot pain and deformity. He complained of foot pain for many years elicited by activities. He had previously undergone conservative treatment, including NSAIDS and toe spacers. Clinical examination and radiographs revealed a significant hallux valgus deformity with an HVA of 37 degrees and an IMA of 17.7 degrees. Given the patient’s persistent pain and evidence of deformity, the patient was indicated for surgery. Triplanar 1st TMT arthrodesis was performed using the Lapiplasty system as directed by the system. An akin osteotomy and exostectomy of the first metatarsal head were also
performed. The patient was compliant with all post-surgical instructions. At twelve weeks postop, the patient presented with a minimal return of the hallux valgus deformity. Slight soreness and moderate swelling were noted with a bulging vein over the midfoot. Standard radiographs of the right foot showed a slight increase in the 1st intermetatarsal space indicative of the gap sign. Six and twelve-month radiographs showed a continuing slight increase in the space.
Discussion
The Lapiplasty procedure, while innovative in addressing tri-planar deformities in hallux valgus correction, has presented a notable but rare complication in the form of intercuneiform instability, as illustrated by the case of our 78-year-old male patient. Intercuneiform instability may manifest clinically as persistent pain, inflammation, and a recurrence of deformity, as seen in our patient. Further research is needed to refine surgical techniques and develop preventative measures to mitigate the risk of intercuneiform instability following Lapiplasty.

Intercuneiform Instability following Triplanar Tarsometatarsal Arthrodesis: A Case Report

Open-book pelvic fractures are an uncommon orthopedic emergency that requires prompt recognition and treatment. A 37-year-old male was involved in high-energy trauma, resulting in an open-book pelvic fracture with bilateral sacroiliac joint diastasis, bilateral superior and inferior pubic rami fractures, a comminuted sacral fracture, and a traumatic hernia. On presentation, he was hemodynamically unstable, with bruising in the right hemipelvis. Acute treatment included a cervical collar, transfusion protocol, central venous access, and pelvic binder. Trauma and orthopedic services were consulted to manage the patient with an interdisciplinary approach. The patient initially underwent external fixation with concomitant exploratory laparotomy. Definitive treatment concluded with colorectal anastomosis, diverting loop ileostomy creation, abdominal closure, open-reduction internal fixation (ORIF) of the pelvis, and removal and reapplication of external fixation.

Multidisciplinary Approach to Managing Open-Book Pelvic Fractures in Trauma Care

Background:
Cactus thorn injuries are an uncommon cause of inflammatory joint pathologies that are often difficult to identify and treat. Patients present with diverse symptoms and findings, requiring a high degree of clinical suspicion for diagnosis. Curative treatment is primarily surgical, including synovectomy, irrigation and debridement, and foreign body removal. In this case, we describe a patient presenting to a Southwest pediatric hospital with a cactus thorn physeal injury resulting in limb deformity.

Case Presentation:
An otherwise healthy 12-year-old active boy presented with knee pain, stiffness, and uneven gait secondary to 2 cm leg length discrepancy (LLD) and genu valgum three years after sustaining a cactus thorn injury to the lateral aspect of his right knee. He had a history of three prior irrigation and debridements at the time of injury and received several months of antibiotics, but no foreign bodies were found and cultures were negative. Advanced imaging showed early degenerative changes that will likely ultimately require a total knee arthroplasty. At our institution, he underwent right knee manipulation under anesthesia, arthroscopic loose body removal, and synovectomy to improve range of motion, right distal medial femoral hemiepiphysiodesis to prevent worsening of genu valgum, and left femur epiphysiodesis to prevent worsening of LLD. Right distal femur lateral opening wedge osteotomy was later performed to fully correct the valgus deformity. His knee extension improved, but persistent flexion limited to 70 degrees caused physical limitations. CT scan and dynamic ultrasound demonstrated a known posterior osteophyte as a mechanical block and a thorn embedded in the posterior knee soft tissues. Five years after initial injury, he underwent an open procedure with osteophyte excision and thorn removal with ultrasound assistance. Knee range of motion improved to 0-95 degrees which was maintained at his most recent follow-up. He now has normal coronal alignment of his bilateral lower extremities with return to all activities despite his persistent LLD. 

Discussion:
This case is the first to describe a partial physeal closure and resulting limb deformity due to an intra-articular cactus thorn injury. This is significant given most documented thorn injuries describe temporary disability that resolves after definitive surgical treatment, whereas this patient suffered permanent joint damage. To date, he has undergone six operative procedures and will likely require future total knee arthroplasty. While this is an uncommon result of a thorn injury, this case emphasizes the importance of identifying and removing intra-articular bodies to minimize subsequent joint damage.

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