United States

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.

AMA Research Challenge 2024 

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

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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.

Pediatric Leg Length Discrepancy and Genu Valgum from Cactus Thorn Physeal Injury: A Case Report

Title : proximal femoral focal deficiency A case report

Background 
Proximal Femoral Focal Deficiency (PFFD) is an extremely rare condition, with an incidence of 1-2 per 100,000 births. It is characterized by dysgenesis and hypoplasia of varying segments of the proximal femur. The severity of the defect ranges from femoral shortening with varus deformity to complete absence of both the acetabulum and proximal femur.

Case Presentation
A 7-month-old male infant, born to consanguineous parents, presented with limb discrepancy, noting a shorter left thigh compared to the right since birth. On examination, the left thigh was shorter and had fewer skin folds compared to the right. The Galeazzi sign was positive, with the left knee lower than the right. No other skeletal or systemic anomalies were observed. Although developmental dysplasia of the hip (DDH) was initially suspected, the short thigh length was unusual. Radiographs of the pelvis and thighs confirmed the diagnosis, revealing partial absence of the proximal end of the left femur shaft with the femoral head present. CT or MRI was not performed. Antenatal scans at 36 weeks showed a breech presentation with a short left femur (35 mm, corresponding to 21 weeks and 2 days) and a right femur (65 mm, corresponding to 34 weeks and 5 days).

Discussion
Both DDH and PFFD can cause limb shortening. DDH is characterized by limited hip abduction and asymmetrical thigh folds, with possible femoral head dislocation. PFFD typically results in more significant and persistent shortening, which can extend to the mid-tibia or knee of the unaffected limb, or even involve near-total absence of the femur. The affected hip in PFFD is usually flexed, abducted, and externally rotated.
Etiological factors like diabetes, drug exposure, viral infections, and trauma, noted in the literature, were absent in this case. PFFD may present as isolated, with associated facial anomalies, or affect multiple limb segments. Management is individualized and may involve prosthesis, pelvic-femoral osteotomies, Van Nes rotationplasty, femoral derotation and valgus osteotomy, or limb lengthening.This case is Type C as per Aitken classification.

Proximal Femoral Focal Deficiency : A Case Report

Background 
Hand-foot-mouth disease (HFMD) is a viral illness that typically presents in children under the age of five with fevers and characteristic papulovesicular lesions of the hands, feet, and oral mucosa. With the rise of coxsackievirus-A6 and atypical Hand-foot-mouth disease (HFMD) presentations with ear lesions, providers need to consider a broad differential for external ear lesions that includes HFMD.
Case Presentation
A 3-year-old previously healthy male patient presents to his primary care clinic with a worsening rash. Three days ago, he developed fever, congestion, and rhinorrhea, and two days later, he developed a rash. The rash initially started on his hands, feet, and perioral region, but has since developed ear lesions. He has known sick contacts with fever and rash only on their hands and feet. On exam, he is afebrile. Skin exam is notable for pruritic, crusting, erythematous papulovesicular eruption concentrated on his palms, soles, and perioral regions. He has multiple, similarly-appearing lesions on the auricles of both ears, but no lesions within the helix or external canal. Oral exam is notable for erythematous macules on the soft palate, posterior oropharynx, and lower inner lip with normal gingiva and tongue.

Discussion
With the patient’s ear lesions, causes such as vascular, inflammatory, neoplastic, and traumatic causes were considered. However, because of his associated symptoms, an infection was more likely. Infections such as CV-A6, Rocky Mountain Spotted Fever, impetigo, Herpes Simplex Virus, Varicella Zoster Virus, and Monkeypox are all potential causes of papulovesicular ear lesions. Given the patient’s age and exposure to known sick contacts with typical HFMD presentation, CV-A6 was the most likely. In recent years CV-A6 has been associated with outbreaks of more severe disease and atypical HFMD worldwide – including China, Spain, Taiwan, the United States, and the UK.

External ear lesions are a rare atypical presentation of HFMD. When patients have no other symptoms, clinicians must consider the broad differential for papulovesicular ear lesions. 


Atypical Hand-Foot-Mouth Disease - The Need to Consider the Various Causes of Pediatric Papulovesicular Ear Lesions ​

Background
The life cycle of Plasmodium parasites, the parasites responsible for the transmission of malaria, depends on the parasites’ ability to invade red blood cells. Mutations that alter the structure of red blood cells, including the mutation that causes sickle cell disease (Hb-SS), interfere with the life cycle of Plasmodium parasites and provide protection against malaria. Patients with Hb-SS rarely develop severe anemia that requires blood transfusions before 6 months of age.
Case Presentation
A female infant with Hb-SS discovered on routine newborn screening began needing monthly transfusions to maintain hemoglobin levels above 7 g/dl at the age of 6 weeks of life. Due to the severity of her anemia, hemolytic anemia gene sequencing was performed and revealed the presence of hereditary elliptocytosis and heterozygosity for G6PD deficiency. Splenectomy, performed at 2 years of age due to splenic sequestration, resulted in decreased frequency of transfusions, highlighting the role of hereditary elliptocytosis in her presentation.
Discussion
Hereditary elliptocytosis modifies the severity of Hb-SS; coexistence of hereditary elliptocytosis with Hb-SS can result in severe, early-onset anemia. Infants with Hb-SS and severe anemia need genetic testing to investigate for other causes of anemia.

Hereditary Elliptocytosis as a Modifier of Sickle Cell Disease Severity

Background
Blisters in children are typically attributed to common causes such as impetigo, herpes zoster, burns, sunburn, friction, contact dermatitis, bug bites, and thumb-sucking. However, less common causes like suction blisters from pacifiers are seldom reported. This case highlights a rare presentation of a suction blister on the thumb caused by a pacifier, emphasizing the need for vigilant monitoring of pacifier use in young children.

Case Presentation
A 21-month-old male with no significant past medical history presented with a suction blister on the left thumb. The blister was discovered after the child woke up crying in the crib, with the pacifier suctioned over the thumb. The thumb exhibited a circumferential pale appearance from the proximal interphalangeal joint to the distal thumb, with an intact, oval bulla filled with clear fluid on the volar thumb pad. The surrounding skin turned erythematous after removing the pacifier. The child was treated with ibuprofen for perceived pain and brought to the clinic. Physical examination confirmed the blister as approximately 8 mm in diameter, with no signs of infection or complications. The blister was managed conservatively. Parents were advised to keep the area clean, avoid puncturing the blister, and follow anticipatory guidance for care. The parents chose to discontinue pacifier use.

Discussion
Pacifiers, while beneficial for soothing young children, can pose risks such as suction blisters from prolonged negative pressure. This case report of a suction blister on the thumb caused by a pacifier highlights the importance of considering uncommon causes of blisters in pediatric patients and underscores the need for careful monitoring of pacifier use. Educating parents on the potential risks and proper usage of pacifiers is crucial to prevent similar injuries. Recommendations include ensuring pacifiers are appropriately sized, made of safe materials, and not left with children unsupervised for extended periods. Improved education and product design may help mitigate these risks.


Pacifiers: Blissful or Blister? Suction Blister on the Thumb

Background: NMDA receptor encephalitis is a rare autoimmune disorder characterized by the production of antibodies against the N-methyl-D-aspartate (NMDA) receptors in the brain. It often presents with a variety of neurological and psychiatric symptoms, including seizures, speech impairment, and behavioral changes. 

Patient: We present the case of a 4-year-old girl initially diagnosed with focal epilepsy of unknown etiology, who exhibited speech regression and behavioral changes. Despite treatment with antiepileptic medication, her symptoms persisted and worsened over time. 

Results: Further evaluation, including imaging studies and EEG monitoring, did not reveal any significant abnormalities. However, autoimmune encephalitis was suspected due to the atypical presentation and lack of response to conventional treatments. Serum testing confirmed the presence of NMDA receptor antibodies. The patient was subsequently treated with high-dose steroids for 5 days, which led to a remarkable improvement in her condition. Within a week of discharge, she began speaking in full sentences again. 

Conclusion: This case highlights the importance of considering autoimmune encephalitis in children presenting with atypical seizure manifestations and behavioral changes. Prompt recognition and treatment with immunomodulatory therapy, such as high-dose steroids, can result in significant clinical improvement and better outcomes for these patients.

Pediatric NMDA Receptor Encephalitis: a Case of Speech Regression and Behavioral Changes

Background
Pericardial effusions have a variety of causes ranging from malignancy and trauma to lymphatic obstruction1. Infection is the most common cause of pericardial effusions in children, with serous effusions being the most common type2. Here we report a case of a post-viral hemorrhagic pericardial effusion with tamponade physiology in a pediatric patient with no history of trauma.

Case Presentation
A 12-year-old female with no past medical history presented to the pediatric emergency department with a two-week history of worsening shortness of breath on exertion. Two weeks prior, she had experienced a viral illness with fevers up to 102ºF and inspiratory chest pain. She tested negative for flu, strep throat, and COVID; she was given azithromycin, which initially improved her symptoms. About one week after her initial presentation, she developed shortness of breath, non-productive cough on exertion, and some congestion. At that time, she was given amoxicillin/clavulanic acid at an after-hours clinic, which her mother supplemented with home prednisolone and an albuterol inhaler. None of these improved her symptoms. She was then discovered to have cardiomegaly on an outside chest x-ray, which prompted a trip to the pediatric emergency department. On presentation to the emergency department, the patient had normal vital signs. In the emergency department, a bedside echocardiogram showed a large pericardial effusion with tamponade physiology, right ventricle diastolic collapse, and >30% mitral valve inflow variation. Cardiology was consulted and the patient was taken to the PICU for urgent pericardiocentesis. A pericardiocentesis and drain placement was performed at bedside in the PICU and drained 1200cc of hemorrhagic fluid, with cultures obtained and showing no growth. Hematology/Oncology was consulted due to concern for malignancy; however, CT and tumor marker labs showed no evidence of malignancy. Rheumatology was also consulted to rule out an autoimmune process, with autoimmune markers returning normal. The patient was given furosemide for the effusion, and repeat echocardiograms showed no accumulation, prompting the drain to be removed. The patient was discharged with ibuprofen and a close cardiology follow-up. Since then, the patient had a normal chest x-ray two weeks after admission, and an echo one month after admission showed no significant residual pericardial effusion, valvular dysfunction, and normal systolic motion.

Discussion
Pericardial effusions are most often serous but can sometimes be hemorrhagic. Hemorrhagic pericardial effusions are usually due to trauma but should not be excluded as a possibility when dealing with viral illnesses or other causes. It is also important to rule out other pathological processes, such as malignancy and autoimmune conditions, when working up hemorrhagic effusions. It is also important to gather a thorough history from patients, including potential trauma or prior infections. Life threatening cardiac tamponade occurs when a patient develops an obstructive shock due to buildup of fluid in the pericardium. Cardiac tamponade is diagnosed with echocardiogram showing right ventricle diastolic collapse. Definitive treatment is pericardiocentesis, which removes pericardial fluid and relieves the obstructive shock.

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