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    Movement Disorder, Suicidal Ideation and Depression Related to Streptococcal Infection
    (2016-03-23) McGehee, Frank; Rangel, Joseph
    Purpose: Following streptococcal infections, children appear to develop neurologic and psychiatric symptoms. We describe two cases of pediatric patients who developed a wide array of neurologic symptoms during or just after streptococcal infections, as measured by elevated ASO titers. Materials and Methods: The medical history and clinical outcomes of the patients were obtained. Patient 1 is a ten year old who presented at age 8 with anxiety and core muscle spasms that culminated in bilateral ballismus and tremors on the right side. He was seen by Neurology and Infectious Disease. Patient 2 is a 10 year old male with one month of insomnia and suicidal thoughts that were beyond his control. Evalauation included CXR, ESR, CBC, CMP and ASO titer and urgent outpatient psycology evaluation. Results: An elevated ASO titer was the only abnormal lab for Patient 1. He improved in 36 hours on oral Cefdinir. Neurology and Infectious Disease were unable to establish a definitive diagnosis. He has had two relapses of chorea like abdominal movements associated with anxiety that both improved with Cefdinir. He improved in 72 hours after starting treatment with Cefdinir and to date is symptom free. Patient 2 had an elevated ASO. He improved in 72 hours after starting treatment with Cefdinir and to date is symptom free. Conclusion: These cases demonstrate that clinicians should consider prior streptococcal infections in the differential of acute neuorologic or psychiatric symptoms.
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    The Management of a Pediatric Patient Under General Anesthesia with Undiagnosed Primary Hypothyroidism: A Case Study
    (2016-03-23) Yamout, Imad; Beall, Jerad
    Hypothyroidism is a common endocrine disorder known to produce major metabolic and physiologic disturbances in an individual under general anesthesia. This case deals with the perioperative management of a pediatric patient with undiagnosed primary hypothyroidism, and illustrates the successful use of high dose epinephrine during an acute decompensation of a pediatric patient with significantly depressed thyroid function. During an elective tracheocutaneous fistula closure, the patient suffered an acute hypotensive event with hypoxemia, shortly following intubation. He initially received a 100mL lactated ringer (LR) bolus and 2 micrograms (mcg) of intravenous epinephrine, but his condition continued to deteriorate. Multiple additional LR boluses, a high dose corticosteroid, and exponential doses of epinephrine (totaling 150 mcg) were then given, which successfully elevated and sustained the patient’s blood pressure. The patient’s condition was initially attributed to a pulmonary hypertensive crisis and a viral pneumonia secondary to rhinovirus. However, the healthcare team later discovered the decompensation was connected to an undiagnosed primary hypothyroidism, and with proper management and use of hydrocortisone and synthetic thyroid hormone, the young boy made a full recovery. To our knowledge this is the first published report of a pediatric patient surviving general anesthesia with a TSH greater than 500 U/mL, and brings to note the importance of primary hypothyroidism being a possible etiology in an acute decompensation of the pediatric patient after the exclusion of alternate causes.
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    Hyperinsulinism Secondary to Congenital Disorder of Glycosylation Type 1a
    (2016-03-23) Thornton, Paul; Basinger, Alice; Caldwell, James; Hamilton, Luke; Wilson, Don; Choi, Woongsoon
    Purpose Congenital disorders of glycosylation (CDG) are a group of rare genetic disorders caused by defects in enzymes responsible for a series of post-transcriptional glycosylation reactions. The most well known subtype of these disorders is CDG type 1a. More than 700 cases have been reported worldwide. Its clinical spectrum and severity are widely variable; common symptoms include seizure, ataxia, hypotonia, developmental delay, liver dysfunction, and cardiomegaly, but hypoglycemia secondary to hyperinsulinism has rarely been reported. A closely related subtype of CDG is CDG type 1b. CDG type 1b is characterized by protein-losing enteropathy and diarrhea, as well as endocrine-related symptoms, such as hypoglycemia. Methods A 2-month-old male was admitted for severe hypoglycemia and liver dysfunction. Because of his concomitant liver disease, enzymatic testing and gene sequencing for a disorder of glycosylation were requested. He was found to have a mutation of the gene for CDG type 1a. Over the subsequent 2 years, the child was noted to have ataxia and hypotonia. An MRI scan of the brain demonstrated a hypoplastic cerebellum and vermis. He experienced multiple seizures. Hypoglycemia, secondarily to hyperinsulinism, was controlled with diazoxide. The hypoglycemia resolved by 2 yrs of age when he was able to fast for >24 hours while maintaining a glucose >50mg/dL and beta-hydroxybutyrate>3mmol/L. Therefore, the diazoxide was discontinued. Results The most common presenting symptoms of CDG type 1a are neurological. In addition to hypotonia and seizures, our patient has persistent hypoglycemia associated with hyperinsulinemia, an unusual presentation of CDG type 1a as opposed to CDG type 1b. The proposed mechanism hyperinsulinemia is secondary to constitutively closed ATP-sensitive K+ channel, producing unregulated release of insulin. Given its ability to open the ATP-sensitive K+ channel, diazoxide is a reasonable treatment option. Our patient’s hypoglycemia responded well to diazoxide. Conclusion Currently, there is no cure for disorders of glycosylation. Mortality within the first year of life is as high as 20%. Treatment options are being explored to facilitate glycosylation with either a membrane-permeable mannose-1-phosphate treatment or enzyme replacement therapy. Additional research is needed to find more effective treatments to improve morbidity and reduce mortality in affected patients.
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    Contemporary Management of Buschke-Lowenstein Tumor Requiring Extensive Genitourinary Reconstruction
    (2016-03-23) Yurvati, Albert; Futterman, Andrew
    Objective: We present a case report of a patient with 10-year history of Buschke-Lowenstein tumor (BLT) and the extensive genitourinary reconstruction required to restore acceptable cosmesis and function in order to guide physicians in the evaluation and management of this disease when it is in the advanced stages. Methods: We performed a case report of a patient undergoing evaluation and treatment for Buschke-Lowenstein tumor at our institution. Results: A single case was evaluated. An acceptable cosmetic and functional outcome was achieved for the patient following extensive genitourinary reconstruction including resection of the tumor and suprapubic fat pad with complex scrotoplasty to provide adequate penile shaft coverage. Pathologic analysis was consistent with condyloma acuminatum. There has been no tumor recurrence at three-month follow up. The patient is currently ambulating without assistance and able to void without difficulty. Conclusion: Buschke-Lowenstein tumors can be treated using topical agents, cryotherapy, or by surgical excision. In the advanced stages, tumors can cause physical stressors, limiting patient mobility and compromising lower urinary tract function. Surgical excision and genitourinary reconstruction is the treatment of choice but presents significant challenges to the surgeon. We have demonstrated a surgical option that provides an acceptable cosmetic and functional outcome.
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    Growth Hormone Treatment in Rapadilino/Rothmund-Thomson Syndrome
    (2016-03-23) Hsieh, Susan; Drummond-Borg, Margaret; Hamilton, Luke; Wilson, Don; McKee, Daryl
    INTRODUCTION/CASE PRESENTATION We describe two female Caucasian siblings with compound heterozygous mutations in the RECQL4 gene. Both were referred to the Endocrine clinic for severe short stature. The 4 year old has talipes equinovarus, bilateral radial reduction defects, small palpebral fissures, small mouth, and skin changes. She was found to be growth hormone (GH) deficient, with a small pituitary gland on MRI scan, and was treated with biosynthetic GH. Her 22 month old sibling was born with bilaterally absence of her tibias, bilateral radial ray reduction defects, small mouth, and small palpebral fissures, but normal GH. DISCUSSION The RECQL4 gene encodes helicases that are important in DNA replication and repair. Clinically RECQL4 mutations are found in three rare conditions: 1) Rapadilino syndrome (RS), 2) Rothmund Thomson syndrome (RTS) and 3) Baller Gerold syndrome (BGS). These three autosomal recessive conditions have similar characteristics of skeletal abnormalities, and an increase prevalence of cancer, such as osteosarcoma, particularly in RTS and RS. Osteosarcoma development has been reported in growth hormone treated RS and RTS patients. The DNA helicase activity of RECQL4 has been shown to be critical in skeletal development. Animal models of mutated RECQL4 deregulate p53 activity that can possibly explain the predisposition to osteosarcoma. CONCLUSION We report two siblings with a rare disorder due to the RECQL4 gene mutation associated with multiple skeletal abnormalities and predisposition cancer, such as osteosarcoma. In individuals who are deficient, GH has been shown to significantly improve linear growth and quality of life. Although the older sibling has shown a favorable response, because of its mitogenic effects GH should be used with caution in children predisposed to cancer. A better understanding of the pathophysiology of the diseases associated with mutations in the RECQL4 gene is needed to help develop a more effective treatment program.
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    Novel Approach to Skydiving after Right Hemipelvectomy and Left Hip Disarticulation
    (2016-03-23) Dombroski, R.; Clearfield, Daniel; King, Andrew
    Novel approach to skydiving after right hemipelvectomy and left hip disarticulation. Introduction. This is a highly unusual case of a patient with a hemipelvectomy on the right with a hip disarticulation on the left who desired to skydive. The goal for this case was to design a protective seating orthosis, that would be 1. lightweight, 2. dissipate impact forces to protect against dynamic overshoot. 3. It would also need to be relatively compact to allow for aerodynamic stability and not create too much drag. 4. We also desired the prosthesis to be affordable (ie. cost $300 or less). These criteria could be directly opposed to one another and costly. We believe this seating orthosis has broad applications to many patients with severe lower extremity trauma and spinal abnormalities, who wish to have the thrill of a completely solo parachute jump. This technology may have potential to be modified to protect our paraolympic athletes who participate in high impact sports. HPI: This is a 24 year old Caucasian male who presented for evaluation for a right hemipelvectomy with a left hip disarticulation and a large amount of heterotrophic ossification in the soft tissue surrounding his pelvis. He sustained a career ending, near fatal, blast injury, while serving in Afghanistan in 2012. Once he became healthy enough to return to his activities of daily living, he had a strong desire to start skydiving. He made an initial attempt to sky dive with uni-density foam from a commercial furniture store. This resulted in soft tissue injury that was significant enough to required hospitalization. He was very determined to continue skydiving, therefore, his military contacts helped establish a relationship with Dr. Dombroski. Dr. Dombroski has expertise in blast impact helmet technology, along with having served as a flight surgeon for the US army. A team with Dr. Dombroski, his prosthetist and sports medicine fellow worked together to help him achieve his dream of a completely solo parachute flight. Physical examination: He is a pleasant, goal directed 24 year old male. He has normal vital signs. His height is 37 inches and he weighs 66 lbs. He appears alert and oriented. His HEENT, cardiovascular, respiratory,abdominal exams, spine, and upper extremity exam are all within normal limits. On MSK exam his pelvis demonstrates the absence of an ischial tuberosity on the right. In addition to this he has multiple painful pan pelvic soft tissue masses that represent his underlying heterotrophic ossification. His GU exam is significant for the absence of testicles. His psychiatric exam demonstrates a normal affect. He is intelligent and actively involved in online college classes. He is hopeful that he can be a role model for others with disabilities. DDX n/a TEST RESULTS 3D reconstruction of Pelvis FINAL DIAGNOSIS Right hemipelvectomy Left hip disarticulation with heterotrophic bone formation DISCUSSION There have been no case reports to our knowledge that report on solo sky diving after right hemipelvectomy and left hip disarticulation, although tandem jumps have been completed, this is felt to not be as thrilling. This is important as there are many individuals with congenital and acquired lower extremity disabilities that desire to live an active life and this may include solo sky diving. Our goal is to allow them to share in the thrill of solo free fall. Initially, he did provide us with consent to help design this seating orthoses, write this case report and waived all liabilities to all parties involved. He is well aware of the risk involved with skydiving. Dr. Dombroski than attempted to adapt his knowledge of helmet technology to create a helmet for our patients pelvis. The orthoses was made from a multi density foam and placed at a distance of no greater than 5/8ths of an inch from the skin surface. Several trial seating orthoses were produced in the process. These prototypes included a chair with lumbar support and 4 motorcycle springs, a circular snow- sled lined with the multi-density foam, 3D printed ABS plastic shell lined with multi-density foam and finally a 50/50 weave carbon-fiber shell lined with multi-density foam. These seating orthoses were tested using a 40lb sand bag dropped from a height of 7 feet, which represents 60% of our patient's body weight. Prototype 1 did not work secondary to failure to control landing trajectories and being too heavy. Prototype 2 created two much drag and would lead to unsafe parachute deployment. Prototype 3 worked but the plastic failed after multiple drops. Prototype 4 was successful and allowed to be tested as a live jump. Our patient then tested this technology with a successful live jump. Follow up: Our patient has since completed 19 jumps, and he has video-recorded some of them. He continues to encourage and support others with lower extremity disabilities. We are thankful for his service and his willingness to participate in this case report. We were able to meet all 4 of our initial criteria. We believe this technology can be adapted to a wide range of skydiving application to allow patients with severe lower limb injuries, cerebral palsy, spina bifida, and spinal injuries to experience the thrill of solo parachute jumps. It also has the potential to be adapted for our paraolympic athletes who participate in high impact sports. More research is needed in these area as we encourage our amputees to become more active.
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    Mucolipidosis Type II (I-Cell Disease)
    (2016-03-23) Brautbar, Ariel; Hamilton, Luke; Wilson, Don; Dehbozorgi, Hangameh
    1. Our case is unusual because ML II does not generally present with fractures. This case demonstrates the importance of considering ML II in infants presenting with in-utero fractures. 2. Athena was used to access the patient's medical chart to collect information on this case presentation. 3. We describe a 10-month-old, Hispanic male of non-consanguineous parents with a history of in- utero fractures. In addition to multiple fractures, osteopenia, congenital heart defect, and jaundice were also present. The infant’s clinical presentation initially suggested osteogenesis imperfecta (OI), however genetic testing found no evidence of known mutations of OI. A careful review of the skeletal survey was suspicious for ML II, and further genetic sequencing at approximately 5 months of age confirmed the diagnosis. 4. Currently, there is no cure for ML II. Treatment focuses on palliative care including physical therapy to alleviate joint stiffness, speech therapy to assist in language acquisition, and surgery to correct conductive deafness. Continued research is needed to reduce morbidity and improve mortality.
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    Severe Salt Wasting in a 16-day-old Male
    (2016-03-23) Wilson, Don; Hamilton, Luke; de la Torre, Alejandro; Cielonko, Luke A.
    Introduction Severe salt-wasting secondary to X-linked Adrenal Hypoplasia Congenita (X-AHC) is a rare cause reported in several cases.1,2 We present a 16-day-old male who exhibited marked hyponatremia and hyperkalemia. X-AHC was not considered based on unexpectedly elevated 11-deoxycortisol and deoxycorticostrone. Due to persistent salt wasting, additional workup was undertaken which revealed a NROB 1/DAX1 DNA sequence mutation consistent with X-AHC. Case Presentation A term 16-day-old male presented with severe electrolyte imbalance. Because of poor feeding, electrolytes were drawn which revealed: Na+ 112 mEq/L (130-145 mEq/L), K+ 6.6 mEq/L (3.7-5.9 mEq/L), and cortisol of 7.7 µg/dL ([greater than] 14 μg/dL). Both parents were healthy; a maternal half-brother was diagnosed with “Addison’s disease” at 18 mos of age requiring replacement therapy. At 21 yrs of age, he experienced an acute illness and died unexpectedly. The infant had normal appearing genitalia without hyperpigmentation. Results of an adrenal steroid panel revealed: progesterone 60 mg/dL ( The child was assumed to have 11-OH-lase Congenital Adrenal Hyperplasia (CAH) and was treated with glucocorticoid replacement. Oral salt supplementation and mineralocorticoid were used to stabilize his Na+ level, both of which were subsequently tapered and discontinued.. However, because of persistent salt-wasting and family history, additional laboratory studies were requested which revealed a NROB 1/DAX1 DNA sequence abnormality at c.1301:1 bp deletion of T: Codon: 434, consistent with a diagnosis of X–AHC. Discussion X-AHC, a rare disorder involving the development of the fetal adrenal cortex3,4, is estimated to occur in 1:140,000 to 1:1,200,000 live births. 5 Often the presentation of X-AHC is misdiagnosed as 21-OH-lase CAH due to 60% of patients presenting with early onset of adrenal failure,2 and salt wasting,1, however, severe salt wasting has been reported in newborns with 11-OH-lase CAH.6,7,8 Most reported patients have very low levels of adrenal precursors, suggesting a cholesterol side-chain cleavage enzyme deficiency or adrenal hypoplasia. This finding, in addition to a family history consistent with X-linked inheritance, generally leads to the correct diagnosis of affected males. Conclusions X-AHC should be considered in males who present with adrenal insufficiency. Although much less common than CAH, a misdiagnosis of X-AHC can result in improper management, incorrect genetic counselling, and a failure to anticipate concomitant and future co-morbidities associated with X-AHC.
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    Atherogenic Cholesterol in 2 Siblings with Congenital Generalized Lipodystrophy
    (2016-03-23) Wilson, Don; Torre, Alejandro; Brautbar, Ariel; Hamilton, Luke; Ali, Mir
    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat from birth, with predisposition to insulin resistance, diabetes, hypertriglyceridemia and hepatic steatosis.1 This clustering of risk factors is often associated with increased atherogenic cholesterol, increasing risk of premature atherosclerotic cardiovascular disease (ASCVD)-related events. We describe two Mexican-American siblings, a 17 yr old male and a 6 yr old female, with congenital generalized lipodystrophy type 4, a variant of CGL, due to null mutations in polymerase I and transcript release factor (PTRF).1 Both siblings had characteristic findings of near lack of total body fat with very low levels of serum leptin, insulin resistance, hepatic steatosis, dyslipidemia and myopathy with elevated CPK. Leptin (ref range 1.4-16.5): 0.8 ng/mL. Measurement of fasting lipid and lipoproteins revealed severe hypertriglyceridemia and low HDL-C. Elevated levels of atherogenic cholesterol (non-HDL-C and LDL-C) are causally related to the development of atherosclerosis, the key underlying process contributing to most clinical ASCVD events. Measurements of atherogenic cholesterol in our two siblings with CGL-4, appeared to increase with age. Lipid profiles in children with CGL-4 are similar to those described in metabolic syndrome, i.e. moderate to severe hypertriglyceridemia with low HDL-C and increased small dense LDL-C. Although CVD risk is increased, children with CGL-4 are prone to sudden cardiac death, the latter most likely a result of the cardiomyocyte dysfunction.
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    The Urgent Management of T-Cell Acute Lymphoblastic Leukemia (T-ALL) in Children
    (2016-03-23) Chhin, Rasmey; Heym, Kenneth; Bowman, Paul; Pham, Christina
    The Urgent Management of T-Cell Acute Lymphoblastic Leukemia (T-ALL) in Children Purpose: Children with T-ALL often have aggressive disease with life-threatening problems at the time of diagnosis. This presentation of three cases describes the diagnostic process of T-ALL, discusses the clinical options involved in initial management, and delineates expectations for patients prior to discharge. This descriptive study highlights the most important steps in managing a patient with T-ALL and its associated complications. Method: Three recently diagnosed cases (late 2015) were available for study. Patient records were reviewed to gather information regarding history, physical exam, laboratory data, imaging, and management. Results: Each of these patients, ages 18 months, 3 years, and 10 years of age, had a different clinical presentation. They were referred to Cook Children’s Medical Center (CCMC) after evaluation by a primary care or urgent care provider. The suspicion of leukemia was confirmed with peripheral blood smears and flow cytometry. Two of the three patients had a mediastinal mass present. All patients presented with severe leukocytosis with white blood cell counts ranging from 425,000 to 781,000/mm3. Due to the concerns of leukostasis, they each underwent leukapheresis to decrease their white cell counts. Concerns addressed during admission included respiratory distress, cerebral leukostasis, and tumor lysis syndrome. These patients spent an average of eleven days in the hospital with each patient spending five days in the Pediatric Intensive Care Unit. Two were enrolled in a randomized clinical trial assessing the efficacy of investigational drug bortezomib in T-ALL. The patient that was not enrolled in the trial received the current standard of care. Conclusion: T-ALL (with or without mediastinal mass) can be the underlying cause of life threatening clinical problems. Although protocols are the backbone of treatment, there may be differences in the initial management, including the decision to utilize leukapheresis to bring WBC levels from initially dangerous elevations to values that are safer before beginning anti-leukemic therapy, as well as steroid preconditioning. Patients were discharged after evidence of clinical stability, treatment progress, and improvement in hematological lab values. In addition, each of these patients had family demonstrating commitment to follow up for additional treatment.
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    Slit Ventricle Syndrome: A Case Report
    (2016-03-23) D'Agostino, Darrin DO, MPH; Murphy, Erin
    Purpose (a): Patients with increased intracranial pressure may have a VP shunt inserted for therapeutic relief of symptoms. Slit ventricle syndrome is a rare medical condition where brain compliance is decreased and there is a rapid increase in intracranial pressure. This condition may result in patients who have obstruction of drainage or CSF overdrainage of the ventricles. The patient may present with headache, nausea, vomiting, and focal neurologic defects. Early detection, diagnosis, and treatment are imperative to prevent further neurologic damage in the patient. An unusual presentation of Slit Ventricle Syndrome is examined and presented in a 42 year old female. Methods (b): A 42 year old Caucasian female with a past medical history of Bell’s palsy, Retinitis Pigmentosa, Pseudotumor cerebri s/p VP shunt with recent adjustments, pacemaker placement, chronic migraines, and recent CVA with residual left sided weakness presented to the Emergency Department for slurred speech, headache, left sided numbness, and confusion. Workup, patient limitations, and literature review is discussed. Results (c): The patient’s medical history and presence of medical devices limited the workup that the care team could perform. However, the care team was able to assess via CT the rapid drainage of the patient’s VP shunt as the source of CVA-like symptoms, and confirm the rare condition of Slit Ventricle Syndrome. The recent increase in VP drainage a month prior caused rapidly progressive intracranial hypertension, leading to stroke-like symptoms, memory impairment, increase in migraine incidence, and generalized headache. After resolution of neurologic deficits, patient was referred back to neurosurgery for adjustment of drainage settings. Conclusions (d): Slit ventricle syndrome should be considered in patients with intermittent intracranial hypertension and small ventricular size see on imaging. This condition is commonly seen in patients with a more progressive presentation over multiple months. The case presented demonstrates the importance of monitoring patients with VP shunts as well as the significance in assessing the source of migraines/headaches in complicated neurology patients.