Case Presentation

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BILATERAL APPEARANCE OF ADIPOSE MEDIAL GASTROCNEMIUS MUSCLE - A CASE REPORT
(2013-04-12) Lowry, Drew
Purpose: The gastrocnemius is normally a strong muscle for ankle plantar flexion as part of the triceps surae of the calf. Its two heads originate from the medial and lateral femoral epicondyles, respectively and converge at the middle half of the posterior leg as contributions of the Achilles tendon inserting on the calcaneus. The purpose of this case report is to describe a rare bilateral appearance of adipose medial gastrocnemius. Methods: A routine dissection was conducted on an 82-year old Caucasian female cadaver whose cause of death was dementia. Results: Complete adipose replacement of the medial head of gastrocnemius muscle was identified on both left and right legs. The adipose tissue was observed through the entire course of the medial gastrocnemius muscle belly from its origin at the medial epicondyle of the femur to its point of convergence as the Achilles tendon at the middle of the posterior leg. A longitudinal incision along the medial head of the gastrocnemius revealed oblique directed adipose tissue arrangement in a superomedial to inferolateral direction. Furthermore, no muscular atrophy, abnormality, or variation was observed throughout the remaining cadaver. Conclusions: It is commonly accepted that aging, sedentary life style, neurodegenerative muscle disorders, and metabolic disorders contribute to the replacement of skeletal muscle by adipose tissue. Frequently these mechanisms involve white-adipose infiltration of the sarcolemma resulting in a decreased percentage of muscle tissue comparatively. According to previous studies, long chain fatty acid uptake into skeletal muscle has been observed in partial sections of muscle and is linked with the muscle-specific protein marker caveolin-3 (Vistisen et al., 2004, p.603). This case involves complete transformation of skeletal muscle into adipose of the medial head of the gastrocnemius bilaterally, as opposed to partial, unilateral, or total gastrocnemius muscle transformation. No additional abnormality or pathological muscular changes were noted from the cadaver. This conversion of skeletal muscle to adipose involving half of the gastrocnemius bilaterally has never been reported before. With a most updated, thorough literature review, more in-depth research is warranted for this phenomenon.
PERICARDIAL EFFUSION IN A 16 MONTH-OLD CHILD WITH LANGHERHANS CELL HISTIOCYTOSIS
(2013-04-12) Bruce, Keelie
Purpose: 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.
QUADRICEPS AND PATELLAR TENDON PIE-CRUSTING AS A TREATMENT FOR LIMITED FLEXION IN TOTAL KNEE ARTHROPLASTY
(2013-04-12) Burge, Ross
Purpose: The pie-crusting method of ligament and tendon lengthening has been used successfully in various tissues but is not reported in the literature as an option for patellar or quadriceps tendons to address flexion limitation. This report reviews the literature on intraoperative treatments, which primarily pertains to the condition of patella baja, and demonstrates that the pie-crusting technique should be included as a treatment option for a tight extensor mechanism while having some advantages over tibial tubercle osteotomy or Z-plasty. Methods: This is a case report and literature review that was done with IRB approval from the University of North Texas Health Science Center. After written informed consent was given by the patient, medical records were provided by the UNT Health Bone and Joint Institute and were kept confidential for this case report. Results: A 58 year old woman presented with bilateral knee pain and stiffness in May 2008. She walked with the use of a rolling walker and a stiff-legged gait at all times. Past medical history included diabetes, obesity, and fibromyalgia. Another orthopaedic surgeon had recommended total knee arthroplasty seven years prior. Her family history contained several family members undergoing bilateral total knee arthroplasty in their 40's. On physical examination, both knees lacked 5 degrees of full extension and flexed roughly 20° bilaterally giving 25° of total range of motion . Radiographs were obtained which showed "bone on bone" medial compartment arthritis. Left total knee arthroplasty was performed in August 2010 through a medial parapatellar approach. The patella was dislocated and no eversion noted. Total Knee Arthroplasty of the right knee was performed in December 2010. Again, the patella was dislocated rather than everted and scar tissue was released. Conclusions: Because the patient lived far from the office, she did not return for her initially scheduled post-operative appointment but returned six weeks after surgery. Although she was non-compliant with the prescribed physical therapy, she had used the continuous passive motion (CPM) machine daily for two weeks after discharge. When she returned two years postoperatively at our request, both knees had improved tremendously to 90° range of motion with 5/5 quadriceps strength. Pie crusting of the quadriceps and patellar tendons is quick and easy, allows standard rehab and strengthening, and avoids the majority of the possible complications of tibial tubercle osteotomy.
GENERALIZED LYMPHADENOPATHY IN A PATIENT WITH DIFFUSE BILATERAL PULMONARY FIBROSIS
(2013-04-12) Melo, Luana
Purpose: To present an unique and atypical case of sarcoidosis and lessons learned from it. Methods: Medical charts, Diagnostic studies, Imaging studies, and Laboratory studies, Consultant notes and referral notes. Results: The patient had 4 lymph noded present throughout his body(left posterior nec, right antecubital fossa, and 2 in the groin) which were nontender, firm, and mobile. He was afebrile and did not have leukocytosis. Chest x-ray revealed diffuse bilateral pattern of micronodular disease with interstitial fibrotic changes within both lungs. CT angiogram revealed diffuse mediastinal, hilar, and upper abdominal retroperitoneal adenopathy. FNA of the lump node in the neck revealed no diagnostic value. HIV status was negative. RPR nonreactive. ANA screen normal. ACE level was elevated. AFP and b-HCG were normal. Echocardiogram revealed an EF of 50-55%. Broncho gram stain, bronchial lavage, and culture were negative. Culture showed no growth at 3 weeks. Fungus smear showed no yeast, no fungal elements seen at 3 weeks. Right Arm Lymph node biopsy showed abudant, back-to-back granulomas with prominent multinucleated giant cells; while the majority of the granulomas are non-caseating, granulomas with central necrosis were not difficult to find. With all the test results back, along with the clinical presentation, physicians were able to diagnose an atypical case of sarcoidosis after ruling out other differential diagonis such as Hodking lymphoma. Conclusions: This case is a great learning experience about expecting the unexpected, and understanding that while most disease processes follow a specific pattern and presentation there will be be cases that are atypical. This case reminds us as clinicians that some cases follow an unusual pattern despite a typical diagnoses.
ANTI NEUTROPHIL CYTOPLASMIC ANTIBODY POSITIVE VASCULITIS ASSOCIATED WITH LEVAMISOLE CONTAMINATION IN STREET DRUGS
(2013-04-12) White, Leon
Purpose: The antihelminth drug, Levamisole is widely used to cut cocaine and has been reported to cause aganulocytosis and neutropenia. It can present with an elvated perinuclear antineutrophil cytoplasmic antibody (P-ANCA), anti-nuclear antibody (ANA), myeloperoxidase (MPO), and proteinase 3 (PR3). The purpose of this communication is to demonstrate potential rheumatological side effect of cocaine use related to levamisole contamination. Methods: We present 2 cases of P-ANCA positive vasculitis in patients with heavy use of cocaine. The pertinent social history, clinical findings and laboratory data were obtained from electronic medical records by authorized physicians. A PubMed search was performed using the terms levamisole and vasculitis, cocaine and levamisole, cocaine and vasculitis, and vasculitis. Articles and cases published within the last 10 years were considered. For the epidemiological statistics, we included data reported by the National Institute on Drug Abuse (NIDA), National Survey on Drug Use and Health (NSDUH), the Center for Disease Control and Prevention (CDC) and United States Drug Enforcement Agency (DEA). Results: Two patients seen in the JPS presented with painful, purpuric skin lesions on their ears, arms, forearms and face. Laboratory assays reveal neutropenia, with a positive ANA and P-ANA. Conclusions: These cases highlight the diagnostic criteria of levamisole induced vasculitis based on the presence of neutropenia, necrotizing vasculitis, rhematological findings, social history, the lack of organ involvement and the location of the lesions. Levamisole vasculitis should be clinically distinguished from other systemic disorders such as Lupus, Wegener's granulomatosis, Churgg-Strauss, and Microscopic polyangiitis.
PROPRANOLOL FOR MANAGEMENT OF INFANTILE HEMANGIOMAS
(2013-04-12) Nguyen, Diana
Purpose: Infantile hemangiomas (IHs) are the most common developmental vascular abnormalities of childhood. These benign lesions undergo a rapid growth phase during the first few months, followed by spontaneous involution, in most cases, without any major subsequent complications. However, a minority of IHs can cause significant functional impairment or disfigurement, indicating the need for therapy. Systemic corticosteroids were initially considered the first-line treatment. Recently, propranolol was incidentally discovered to demonstrate increased efficacy in promoting the reduction of hemangiomas, in addition to fewer side effects compared to steroids. This case report documents the effects of propranolol therapy on the management of a patient with an extensive right-sided facial hemangioma affecting the periorbital and nasal regions. Methods: Patient was 3 months of age when first seen for consultation for a large right-sided facial hemangioma. He was managed with an oral suspension of Propranolol 20mg/5 ml. On the first two days of treatment, the patient was given one daily dose of .5mg/kg, and on days 3-7, he was given .5mg/kg twice a day. At one week, the dose was increased to 1 mg/kg twice a day. A follow up was conducted at two weeks, then once every month. The response to propranolol therapy was documented using clinical observation and photographs. Results: Clinical improvement of the IH was noted 10 days after initiating propranolol therapy. Over a 5 month course of treatment, the lesion softened and flattened in appearance, as well as changed in color from red to deep purple to a more soft purple with flesh toned areas. An impressive regression in size of the lesion was noted, enabling patient to open and close the right eye without difficulty. Conclusions: Propranolol therapy has been documented for it's efficacy and safety in the management of IHs that pose a high risk for disfiguring complications. This case report confirms the results of previous studies. The patient's hemangioma demonstrated drastic improvement in response to propranolol therapy in terms of both appearance, as well as reduction in size of the lesion, contributing to an improved quality of life.
A CASE PRESENTATION OF INTESTINAL CANDIDIASIS CAUSING IRRITABLE BOWEL SYNDROME AND PERIPHERAL NEUROPATHY
(2013-04-12) Yu, Lu
Purpose: To demonstrate the role of candidiasis in Irritable Bowel Syndrome (IBS), investigate the possibility of intestinal candidiasis causing periphery neuropathy, and encourage clinicians to consider intestinal candidiasis in patients with symptoms of IBS. Methods: A clinical case of IBS with peripheral neuropathy is investigated. The 35yo man of Mediterranean descent complained of persistent diarrhea, diffuse abdominal pain, generalized myalgia, and parenthesis in extremities. Stools were loose, watery, foul smelling, and yellowish in color. There was no melena. He occasionally had constipation. Dicyclomine provided mild relief during episodes of severe diarrhea. Myalgias were most severe in lower lumbar region, radiating to his extremities. Tramadol provided moderate relief. He also felt weakness, numbness, and tingling in his face, hands and feet Symptoms had been waxing and waning for over 6 years, but worsened over the last year. 6 years ago, he was diagnosed with IBS after a negative EGD and colonoscopy (some evidence of diverticulosis). Results: Labs and imaging tests ruled out celiac disease, diabetes, thyroid disease, mineral deficiency, metal poisoning, autoimmune disorders, Lyme disease, syphilis, and structural abnormalities. The patient was advised keep a food diary. Over a month of carbohydrate and sugar restriction, he had significant relief of his symptoms. His abdominal pain and diarrhea had largely resolved since the diet change. He still experienced occasional parenthesis in extremities. Acquired carbohydrate intolerance due to intestinal candidiasis was suspected. He was treated with Diflucan for 30 days. Along with medication, he was also advised to supplement with probiotics and eat a healthy diet with continued carbohydrate and yeast restriction. The patient has remained symptom-free except for residual peripheral neuropathy since the treatment. Conclusions: Candida albican is a normal gastrointestinal microbial in healthy humans, but during immunosuppression or alteration of bacteria microbiota, such as following broad-spectrum antibiotic treatment or chronic vaginal candidiasis, C. albicans can overgrow and suppress the healthy bacterium of the colon, resulting in abdominal pain and diarrhea. It is also suspected that candidiasis can cause peripheral neuropathy due to overproduction of alcohol. Treatment is anti-fungal medication. A healthy, low-carb diet and probiotic supplements are also essential to maintain intestinal health and prevent recurrence.
PATIENT WITH SMALL INTERSTITIAL DELETION OF SHORT ARM OF CHROMOSOME 2
(2013-04-12) Ali, Faaria
Purpose: 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.
PYRUVATE DEHYDROGENASE DEFICIENCY, DYSTONIA AND DEEP BRAIN STIMULATION
(2013-04-12) Freedman, Daniel
Purpose: Pyruvate dehydrogenase deficiency (PDH) is an X-linked inherited neurodegenerative mitochondrial disorder with diverse neurological manifestations, including secondary dystonia. We present the unique case of a 10 year old female with PDH-related dystonia and bilateral globus pallidus internus (GPi) necrosis who successfully underwent subthalamic nucleus (STN) deep brain stimulation (DBS). Methods: This is the case of a 10 year old right-handed female who was referred to neurology at Cook Children's Hospital for progressive weakness, an abnormal brain scan, and concern for PDH. In January, 2011, at the age of 8, she presented to her pediatrician with an upper respiratory illness and weakness. She developed trouble walking and was sent to the local hospital for a neurologic evaluation. Her presenting symptoms at the time were ataxia, slurred speech and increased episodes of falling. Her MRI revealed T2 signal hyperintensity in the globus pallidus and the cerebral peduncles and dorsal mid brain in the periaqueductal region. She failed to improve over several months before genetic testing confirmed PDH. A repeat MRI showed cystic regions in the same location as the previous hyperintense signals. After failing medication, botox, and intrathecal baclofen, she underwent DBS placement on April 4, 2012 with DBS electrodes implanted into the sub-thalamic nucleus (STN) bilaterally. Results: She has regained the ability to walk with the assistance of a walker and bilateral ankle-foot orthotics (AFOs). Conclusions: This is an unusual presentation of generalized dystonia secondary to pyruvate dehydrogenase deficiency. Our patient's treatment was further complicated by the complete obliteration of the GPi, thought to be due to metabolic insult from her PDH. The overall response to STN-DBS was significant, clearly perceived by the patient and family, and has proved to be longstanding by the follow-up duration of 2 years. While GPi is the established primary target for dystonia, this case suggests that STN may become an appealing target, especially in cases with either functional or surgical pallidotomies. The significant improvement of the patient's symptoms also contributes to growing evidence that DBS may be a useful treatment in cases of secondary dystonia, including those caused by mitochondrial disorders like PDH.
IMMATURE TERATOMA IN A 16 YEAR OLD PATIENT: A CASE REPORT
(2013-04-12) Venkatesh, Rati
Purpose: While immature teratomas are rare germ cell tumors, which can affect both males and females, this case presentation focuses on clinical presentation, treatment and management of a patient from onset of symptoms to initial treatment options and long-term goals. Methods: Material and information for this case presentation was gathered from medical records from the patient's chart at a family medicine clinic. Other research material was then used to compare current practice guidelines in the setting of this case. Results: Immature teratomas represent germ cell tumors that involve layers of ectoderm, mesoderm and/or endoderm. With the varied symptoms at presentation, the likelihood of malignancy and the importance of staging and grading, the treatment plan and prognosis for immature teratomas can be very involved. In the case of this 16 year old, the patient who presented with both incontinence and abdominal pain needed surgery and chemotherapy. Conclusions: This case report serves to discuss one patient's presentation, initial workup and treatment of an immature teratoma. Through exploration of current guidelines, treatment options and other research regarding immature teratomas, health care providers can better understand the varied forms of these cancers and how to best care for patients with an immature teratoma.
A CASE OF WEST NILE VIRUS MYOCARDITIS PRESENTING AS NON-ST ELEVATION MYOCARDIAL INFARCTION
(2013-04-12) Wardi, Miraie
Purpose: This case study will present an atypical presentation of West Nile Virus (WNV) myocarditis in a Hispanic male who presented with palpitations, syncope and chest pain consistent with NSTEMI. Typically, WNV infection is asymptomatic; those who are symptomatic present most commonly with WNV and neuroinvasive disease. Myocarditis is an atypical presentation of West Nile Virus infection. We will illustrate the clinical presentation of WNV myocarditis that initially presented as NSTEMI. Methods: The patient's hospital records, including labs, echocardiography findings and cardiac catherization findings, were reviewed. Results: A 38 year old Hispanic male with a previous history of hypertension, hemorrhagic stroke, hyperlipidemia, sleep apnea, metabolic syndrome and gout presented after falling in his home with a chief complaint of elbow, head, neck and chest pain. The patient reported syncope, palpitations, chest pain but no symptoms associated with seizures. Labs showed elevated troponin of 1.385 and a WBC of 21.4. ECG revealed sinus tachycardia, left axis deviation, left atrial enlargement, left anterior fascicular block and nonspecific ST and T wave abnormalities. The patient was admitted on IV antibiotics and serial troponins were monitored. During the course of the admission, cardiac enzymes progressively trended down. Left heart catherization showed minimum irregularities of the left anterior descending less than 20% without evidence of any obstructive coronary artery disease lesions in any of the coronary arteries. Echocardiogram revealed new heart failure with LV ejection fraction of 35-40% due to global cardiomyopathy. Prior to discharge, the patient was tested for West Nile Virus antibodies and viral antigens. He was sent home on maximum medical therapy for coronary artery disease and CHF. West Nile Virus serology was obtained several days after discharge and revealed that the patient was positive for West Nile Virus infection. Conclusions: This case highlights the need for further investigation of cases presenting with increased troponins and suspicion for NSTEMI. Viral myocarditis should be suspected in symptomatic patients who present during mosquito seasons with new onset and persisting headache with chest pain, increased troponins, significant ECG changes, or new onset CHF. Specifically, West Nile Virus has now been implicated in cases with significant cardiac involvement and should be included in any differential diagnosis concerning the etiology of cardiac events.
MELLOW YELLOW: A CASE OF AUTOIMMUNE HEPATITIS IN A 2 YEAR OLD FEMALE
(2013-04-12) Singh, Ankita
Purpose: 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.
MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE SYNDROME: A CASE REPORT
(2013-04-12) Quackenbush, David
Purpose: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), is a rare syndrome inherited through mitochondrial DNA, and thus from the female parent. This case study serves to educate health professionals in the diagnosis, care, and prognosis of individuals with MELAS syndrome. Methods: Information for this case report was collected retrospectively from electronic medical records of the patient's clinical encounters at a family medicine clinic. This information was compared to other case reports and research done on MELAS syndrome and compiled for a poster presentation. Results: MELAS syndrome is a multisystem illness, and individuals often have varied presentations. MELAS syndrome is often found during childhood, and there are several key symptoms that should raise a clinician's suspicion. The patient presented in the case report had many of the health issues associated with MELAS syndrome including seizures and a stroke at a young age. Conclusions: This case report demonstrates the effect MELAS syndrome has on an individual. The case serves to educate health professionals in the common presentation of this rare mitochondrial disease and discusses different treatment modalities that have been attempted among other affected individuals.
ANATOMICAL VARIATION OF THE STERNOCLEIDOMASTOID MUSCLE; A CASE REPORT
(2013-04-12) Vice, Lauren
Purpose: The sternocleidomastoid (SCM) muscle is a prominent neck muscle. It is the main flexor muscle of the neck and an accessory muscle during deep inspiration. Variations of the SCM have been widely recognized and described in medical literature. Supernumerary clavicular origins separating into individual bellies are a defined variant. However, the existence of a thyrohyoid insertion has not previously been described. Methods: Medical students performed a routine cadaver dissection in the University of North Texas Health Science Center's Gross Anatomy Lab. Results: A sternocleidomastoid muscle with four heads was identified on the left side of a 59 year old male cadaver whose cause of death is liver cancer. A typical SCM has origins on the sternal head and clavicular head, and an insertion on the mastoid process. This male cadaver however has two distinct abnormal findings. The SCM shows three clavicular origins separating into individual bellies. Additionally a unilateral thyrohyoid insertion is present, originating from the distal end of the sterno-mastoid belly. While the supernumerary SCM bellies can be explained by abnormal mesodermal splitting, the thyrohyoid insertion presents as a genetic abnormality not previously reported. Conclusions: Surgical awareness of abnormalities is significant, especially in regards to the existence of supernumerary posterior triangles and the additional thyrohyoid head. Furthermore, the clinical implications suggest possible tension headaches, torticollis and even infringement on the thyroid cartilage during swallowing and speech.
PHELAN MCDERMID SYNDROME: A POTENTIAL UNDERLYING CAUSE OF UNEXPLAINED MENTAL RETARDATION IN THE PEDIATRIC POPULATION
(2013-04-12) Pickard, Brenna
Purpose: This case report will present information on a rare chromosome 22q13.3 deletion syndrome named Phelan McDermid syndrome(PMDS). With approximately 600 reported cases worldwide and minimal research published,physicians know little about this disorder.The diagnosis of PMDS is rarely diagnosed due to the broad array of presenting characteristics such as neonatal hypotonia, severely delayed speech,dysmorphic features,and global developmental delays.Because the subtelomeric fluorescence-in-situ hybridization(FISH)analysis used to detect the microdeletion is fairly new and the 22q13.3 deletion can go undetected on routine cytogenetic analyses,physicians remain uncertain on how to correctly diagnose these patients.This case report aims to educate others on the phenotypic and behavioral characteristics,genetic testing,and treatment for PMDS,as well as explain the importance of a gene involved named SHANK3.The loss of this gene produces the neurological aspects seen in PMDS,so this report will discuss how this syndrome could be a major underlying cause of unexplained mental retardation(MR)in the pediatric population. Methods: One representative case will be reviewed in detail with the approval of the patient's mother and pediatrician.We will review published literature to describe the clinical features of this syndrome and discuss genetic testing used for diagnosis. Results: Upon reviewing the patient's records,we identified features and comorbidities consistent with the reviewed literature. Due to the 22q13.3 deletion in PMDS,a gene named SHANK3 is lost.Shank proteins play a role in forming nerve connections and are crucial in brain cell communication;therefore,deletions of these genes cause a majority of the symptoms seen.Literature states SHANK3 mutations are found in other disorders which raise the possibility that PMDS is related to other diseases seen today such as schizophrenia and autism. Conclusions: PMDS is an infrequently recognized disorder that has not been extensively studied. Because of the difficulties in detecting this disorder, 22q13.3 deletions may go unnoticed, leading instead to the diagnosis of other MR spectrum disorders. With the presented information, physicians may gain a better understanding of how SHANK3 deletions link PMDS to other disorders and cause it to be a possible cause of unexplained MR.This case report also aims to raise awareness of this disorder so earlier detection may be possible and genetic counseling may be enhanced and utilized more frequently.
A CASE OF HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY WITH NO PREVIOUS CARDIAC HISTORY
(2013-04-12) Wardi, Miraie
Purpose: This case study will depict the presentation, diagnosis, management and prognosis of hypertrophic obstructive cardiomyopathy (HOCM) in a 64-year-old Caucasian female with no previous cardiac history who presented with dyspnea and an incidental systolic murmur. HOCM is a genetic disease caused by mutations of sarcomere genes that encode components of the contractile apparatus of the heart. We will illustrate an atypical presentation of HOCM in a female with no previous cardiac history and discuss appropriate diagnostic and treatment options. Methods: The patient's medical records, echocardiography reports, and cardiac cauterization reports, were reviewed. Results: A 64-year-old female with a past medical history of hyperlipidemia, tobacco dependence and COPD presented to her pulmonologist with worsening dyspnea on exertion. Upon physical examination, a global III/VI systolic ejection murmur that increased upon standing was heard. Upon evaluation by cardiology and review of echocardiography results, it was found that the patient has severe HOCM with an outflow gradient of 144 mmHg with peak velocities across the left ventricular outflow tract (LVOT) at 8.1 cm/s. There was also severe global left ventricular hypertrophy and asymmetric septal hypertrophy. Left ventricular ejection fraction was preserved at 55%. Systolic anterior motion causing severe mitral regurgitation in an eccentric anterior direction with thickened mitral leaflets was also found. Cardiac catherization revealed mild nonbstructive coronary artery disease, moderate or severe pulmonary hypertension and severe left ventricular to aortic pressure gradient. Holter monitoring revealed sinus rhythm, no NSVT and no significant pauses. The patient was counseled on treatment options which include either myomectomy or alcohol septal ablation. Conclusions: A leading cause of sudden cardiac death in young athletes, HOCM can also present as a sporadic form in older individuals. When performing a cardiac examination, it is important to consider rare cardiac pathologies such as HOCM. Adequate work up of HOCM includes evaluation of the left ventricular and septal size and mitral valve function. It is also important to screen the patient's first degree relatives for HOCM because of the autosomal dominant nature of HOCM gene mutations. Once appropriately diagnosed, treatment options are alcohol ablation or myomectomy of the hypertrophied septum. Prompt treatment is essential to minimize the risk of sudden cardiac death.
RENAL CELL CARCINOMA WITH INVASION INTO THE RENAL VEIN
(2013-04-12) Tollemache, Julie
Purpose: The purpose of this case presentation is to provide an example of a complex scenario involving renal cell carcinoma invasion into the renal vein. By reviewing research and guidelines surrounding diagnosis, staging and treatment of renal cell carcinoma, the probable outcomes of this case can be addressed. Methods: Medical records were reviewed in order to detail the history, physical exam, surgical intervention, pathology, histology, and staging for a patient with renal cell carcinoma. Results: A 60 year old male presented to urology for follow-up from a recent trip to the emergency department where he was evaluated for gross hematuria and urinary retention. The patient's past medical history was significant for hypertension and diabetes mellitus, type II. Family history was significant only for diabetes. One month later, the patient again presented to urology for follow-up from another visit to the emergency department where he was evaluated for the presence of blood clots in his urine, pain with urination, and chills. An abdominal CT scan revealed a 14 cm renal mass with invasion into the left renal vein to the area over the aorta. An MRI was ordered and an open radical nephrectomy was scheduled.The resected left renal mass was sent to pathology. The overall specimen dimensions were reported as 23.0 x 13.5 x 9.0 cm. Bisection of the kidney revealed a tumor mass with a variegated red-orange cut surface measuring 13.0 x 9.0 x 9.0 cm. Microscopic analysis of the tumor reveals a clear cell carcinoma with gross and microscopic invasion of the renal vein. Conclusions: Diagnosis of renal cell carcinoma is presumptively made based on radiologic imaging of a solid renal mass. Surgical resection tends to be the preferred method since this approach is both diagnostic and therapeutic. Since the 1960s, radical nephrectomy has been the procedure of choice when a study demonstrated a 5-year survival rate increase to 66% from 48% with simple nephrectomy.In the case presented, radiologic imaging revealed a single 13 cm tumor with renal vein invasion, but without lymph node involvement preoperatively classifying it as Stage III. Due to the stage and size of the tumor, absence of evidence of metastatic disease, and stable health of the patient, radical nephrectomy was chosen as the treatment modality.In the case presented, both the high stage and especially the presence of venous invasion are poor prognostic indicators. However, the apparent lack of nodal involvement is favorable.
THE PRESENTATION OF ALL IN A CHILD WITH DOWN SYNDROME: A CASE PRESENTATION
(2013-04-12) Perez, Rafael
Purpose: Through case presentation, we emphasize the need to consider the possibility of leukemia when a child presents with severe bone and joint pain. We describe the case of a 4-year-old child with Down syndrome diagnosed with acute lymphoblastic leukemia (ALL), whose main presenting symptoms were bone/joint pain and fever of 5 weeks duration. She was initially diagnosed with osteomyelitis of her left clavicle, which was found to be benign after incision and drainage and surgical biopsy. After an adverse reaction to her antibiotics, she was diagnosed with serum sickness and was given a 5 day course of prednisolone after a fairly benign workup. After referral to a rheumatology clinic with complaints of persistent bone and joint pain, she was finally diagnosed with ALL after finding an elevated LDH and leukemia blast cells appearing on blood smear. Methods: We describe a patient case presentation, including chief complaints, physical exam, lab results/procedures, and diagnosis. In addition, we review research describing ALL presenting primarily with musculoskeletal symptoms, and the characteristics of acute leukemia in patients with Down syndrome Results: In a study of 296 patients reviewed over a 13 year period, it was found that 18% of patients with ALL presented primarily with bone pain. Many had near normal lab values which ultimately delayed their diagnosis of ALL by 2 weeks on average. It is well documented that children with Down syndrome have a 10-20 fold increased risk of ALL when compared to non-Down syndrome children. In this population, ALL is associated with an increased morbidity and mortality. Conclusions: Patients with ALL may present with bone and joint pain and often experience delays in diagnosis. Children with Down syndrome are at higher risk of developing ALL, and this possibility must always be considered in the presence of an otherwise unexplained illness.
ACUTE GLOBAL AMNESIA WITH HYPERDENSITIES OF BILATERAL TEMPORAL LOBES
(2013-04-12) Truong, Melanie
Purpose: Case presentation of a 31 year old female with a past medical history of diabetes, hyperlipidemia, and vitiligo who presented with an acute global amnesia and hyper-densities of bilateral temporal lobes. A unique case and the lessons learned. Methods: Medical charts, Diagnostic studies, Imaging studies, Lumbar puncture and Laboratory studies, Consultant notes and referral notes. Results: This case is a journey into the process of elimination as well as trial and error. From laboratory draws for blood; looking for serology, immunologic markers, and complete blood differentials; to imaging studies showing minor arcuate infarcts on CT, and ominous hyper-densities in both temporal lobes of the brain by MRI; we speculate as to the cause. This journey was one of expectant surprise. Acyclovir was prophylactically used to circumvent a herpetic encephalitis. Soon it was found to be unnecessary as the lumbar puncture showed herpes to be an unlikely source. As the days progressed, it became evident that our advanced diagnostic abilities were not satisfactory. The patient did not get better. In the end, after performing lumbar punctures, additional imaging of the blood vessels, and continued laboratory draws in search of an answer; our patient grew weary. A decision to recommend a brain biopsy was presented much too late. The patient decisively declined. Conclusions: As physicians, we want to get to the bottom of any medical problem. Physicians are often prompted to find the answers to patients' problems everyday. In medical texts and in pathology books, it seems so convenient. A case is presented, a trail of diagnostic study often points to the ultimate answer; the case is complete and the book can be closed. Unfortunately, in real life, people live with unsolved issues all the time. So our patient, after over a week in a confined space, decided that she no longer cares enough to find the diagnosis. She knows she cannot remember some things and that it worries her family, but she had had enough. The lesson learned here is that regardless of how severe or esoteric the problem; an expedient management of the case may have been better served. For instance, recognizing the need for a brain biopsy earlier rather than later may have elucidated a possible diagnosis. Second, it isn't the final diagnosis that matters to a patient, but the freedom to explore it if she so chooses to&or not.
LISINOPRIL-INDUCED HYPERPIGMENTATION
(2013-04-12) Yang, Robert
Purpose: For patients with hypertension, cardiovascular disease, and diabetes, lisinopril is a commonly prescribed angiotensin-converting enzyme (ACE) inhibitor. While known to have adverse cutaneous reactions such as pruritus and angioedema, we present a case of hyperpigmenting, desquamating rash in a 54 year-old African American woman. Methods: The information was gathered from patient chart review. Results: Upon discontinuation of lisinopril, the subject's rash resolved. Conclusions: For patients on ACE inhibitors, development of a hyperpigmenting, desquamating rash should considered an adverse cutaneous reaction.

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