Browsing by Subject "Pediatric"
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Item ACUTE DISSEMINATED ENCEPHALOMYELITIS IN A PEDIATRIC PATIENT: A CASE STUDY(2013-04-12) Long, AliaPurpose: The purpose of this study is to present a unique case of a pediatric patient with acute disseminated encephalomyelitis (ADEM) who was treated with corticosteroids. Methods: The pathogenesis of ADEM is primarily unknown. The significance of this case study is to present the clinical findings, neurologic changes during the patient's hospital stay, and describe radiological imaging that ultimately led to the diagnosis of ADEM. Results: A case of ADEM in a patient with a past medical history of mental retardation, ADHD, and Bipolar disease was presented. The combination of high-dose methylprednisolone, occupational therapy, and physical therapy resulted in improvement of the patient's level of pain, neurologic findings, and range of motion in her upper and lower extremities. The treatment modalities, possible long-term adverse sequelae as a result of ADEM, review of literature, and discussion and management of ADEM were reviewed. Conclusions: ADEM is an uncommon phenomenon that can be frustrating for patients and physicians as a result of the difficulty in establishing the diagnosis, unknown etiology, and wide variability in morbidity and neurologic deficits that can result. While evidence has shown that ADEM can be the result of a pathological process or may be associated with vaccinations, high-dose steroids combined with physical therapy and occupational therapy may be an effective treatment modality.Item EXTRARENAL WILMS' TUMOR: A RARE CASE PRESENTATION(2013-04-12) Kelley IV, JamesPurpose: Wilms' tumor is the most common primary abdominal neoplasm arising in the kidney in the pediatric population. However, Wilms' tumor arising outside of the kidney (extrarenal Wilms' tumor) is a highly rare occurrence. In this report, we present the case of a six-year-old girl who presented with a large midline pelvic and abdominal mass, which after extensive pathologic analysis was diagnosed as Wilms' tumor. To our knowledge, this is one of only a small number of cases reported of Wilms' tumor arising in the pelvis of a child. The purpose of this study is to bring attention to a rare presentation of a common tumor arising in children. Methods: This case was studied to demonstrate an uncommon presentation of a common childhood tumor, allowing the reader to better understand presentations of Wilms' tumor arising outside of the kidney. Literature review of other previous reports of extrarenal Wilms' tumor in children was used to compare and contrast the tumor sites, modes of therapy applied, and overall outcomes. Results: After extensive analysis of imaging and pathologic specimens, the patient was diagnosed with extrarenal Wilms' tumor. The patient was administered extensive chemotherapy prior to surgical removal (neoadjuvant chemotherapy) according to a standard regimen for Wilms' tumor. After responding well to the chemotherapy, the tumor was resected, after which additional chemotherapy was administered. Five years since the completion of treatment, the patient has had no recurrence of malignancy. Conclusions: Due to its rare presentation, along with lack of tumor markers, it can be very difficult to make the diagnosis of extrarenal Wilms' tumor without surgical exploration and careful pathologic analysis. This brings to light the significance of a comprehensive patient history and physical exam. Examination of this case, along with prior reports of extrarenal Wilms' tumor, suggests that when evaluating a child with a solid tumor arising in the abdomen and pelvis, extrarenal Wilms' tumor should be a consideration in the differential diagnosis.Item MELLOW YELLOW: A CASE OF AUTOIMMUNE HEPATITIS IN A 2 YEAR OLD FEMALE(2013-04-12) Singh, AnkitaPurpose: The following case report discusses the significance of promptly diagnosing and managing a child with AIH to prevent irreparable damage to vital organs. Methods: The methods used to evaluate this patient were primarily laboratory studies, which included serial liver enzyme levels, antibodies, abdominal ultrasound, and liver biopsy. Results: On admission, liver enzymes were elevated with AST >1900 u/L and ALT >1400 u/L. Total bilirubin and direct bilirubin were increased at 12.2 mg/dl and 10.2 mg/dl, respectively. These values remained high for one week. Total IgG was elevated to 3200 mg/dl. Antinuclear antibody (ANA) was negative, but antismooth muscle antibody (SMA) and liver-kidney-microsome antibody (anti-LKM) were positive. Ultrasound revealed liver cirrhosis, and liver biopsy was consistent with hepatitis. Conclusions: The results reinforced the diagnosis of Type II AIH. The management for this patient included immunosuppressive therapy and monitoring of pertinent lab values. Since the presentation of AIH in children is variable, the importance of timely diagnosis allows for a child to receive suitable treatment in an efficient manner.Item PATIENT WITH SMALL INTERSTITIAL DELETION OF SHORT ARM OF CHROMOSOME 2(2013-04-12) Ali, FaariaPurpose: This is a unique case presentation of an infant male who was diagnosed with chromosomal 2 deletion at Cook Children's. Since birth, he was noted to have a variety of physical anomalies. These anomalies include hearing loss, coloboma, choanal atresia, club feet, syndactyl, cardiac defects, microphallus, and facial defects. The male was born to a young first time mother and a middle aged father who have no family history of genetic anomalies or defects. The purpose is to record this rare chromosomal defect that has only been reported in literature five times. Methods: Retrospective review of one patient's medical records, including diagnostic imaging results, laboratory studies, and genetic studies from October 2012 to January 2013. Results: The genetic analysis revealed a small interstitial deletion of the short arm of chromosome 2. Conclusions: This is an extraordinarily rare case of a short arm chromosomal 2 deletion. While chromosomal deletions are rare, any presentation of such unique physical anomalies should be carefully evaluated. Chromosomal analysis plays a pivotal role in diagnosis and prognosis of future development, and influences future pregnancies. Awareness of this chromosomal defect will help educate others and allow for careful family planning in similar situations.Item PERICARDIAL EFFUSION IN A 16 MONTH-OLD CHILD WITH LANGHERHANS CELL HISTIOCYTOSIS(2013-04-12) Bruce, KeeliePurpose: Langerhans cell histiocytosis (LCH) is a proliferative disorder of Langerhans dendritic cells that has a wide range of clinical presentations. It may present with involvement of almost any system in the body. It can present in one organ system, or multiple organ systems. There have been rare reports of cardiac involvement, and a literature search revealed only one previously reported case with a possible pericardial effusion. We describe a case of Langerhans Cell Histiocytosis presenting with pericardial effusion in a 16 month-old child. Methods: A 16 month old Hispanic female presented to the emergency department with neck swelling for one week. The patient had a history of mild neck enlargement since birth, but over the last week had developed redness over the area with increased size. She appeared comfortable with no fever, dyspnea, or dysphagia. Her past medical and surgical histories were unremarkable, and her family history was noncontributory. Results: On physical exam, there was a non-tender 4-5 cm longitudinal mass in the midline. Her labs were normal. A neck ultrasound showed a 5x4.5 cm mass with mildly prominent lymph node on the left side. MRI showed a mass in the anterior neck and upper chest with an unknown origin. The patient had a chest x-ray and then underwent an excisional biopsy of the mass. After three days, hematology-oncology service was consulted and the chest x-ray was read as showing the known mass with cardiomegaly. A subsequent echocardiogram showed a large pericardial effusion with evidence of early tamponade and atrial collapse. The pathology results confirmed a diagnosis of LCH. The patient was admitted to the intensive care unit and underwent a pericardiocentesis where a large amount of clear serous fluid was obtained. Cytology revealed the presence of Langerhans cells. With a diagnosis of LCH, the patient was started on chemotherapy the next day. The patient's repeat chest x-ray showed no increase in size. The patient tolerated the chemotherapy well; the effusion did not re-accumulate. She was discharged after her third day of treatment. Conclusions: This case illustrates an unusual presentation of LCH. Pickens and Rosenheim reported a case of a 60 year old woman who was diagnosed with LCH and pericardial effusion. Pericardial fluid contained histiocytes, but it was unclear if these were truly Langerhans cells or mesothelial cells. Our case is unique because the patient was very young and the pericardial fluid contained cells with Langerhans cell markers.