Extensive Medical Workup Research Articles

Ophthalmic Artery Occlusion as the Presenting Sign of Acquired Immunodeficiency Syndrome.

Describe a case of severe occlusive vasculitis that led to a diagnosis of acquired immunodeficiency syndrome (AIDS) in a previously healthy middle-aged man. Multimodal imaging including widefield fundus photography, spectral domain optical coherence tomography (OCT), and widefield fluorescein angiography (FA). A healthy 46-year-old man presented with sudden onset vision loss in his left eye with an afferent pupillary defect. His exam revealed signs of retinal vascular disease in both eyes, with an ophthalmic artery occlusion in his affected left eye and a hemiretinal vein occlusion in his asymptomatic right eye. An extensive medical workup was significant for human immunodeficiency virus (HIV) positivity; he was ultimately diagnosed with AIDS and ocular findings were attributed to an associated occlusive vasculitis. He developed anterior segment neovascularization in the left eye for which he received intravitreal bevacizumab and panretinal photocoagulation. He ultimately required cyclophotocoagulation in the left eye for poorly controlled intraocular pressure in the setting of neovascular glaucoma. Although HIV is most classically associated with a retinal microangiopathy, testing should be considered in cases of occlusive retinal vasculitis as it is a rare cause of such findings.

Right Middle Cerebral Artery Infarct after Minor Head Trauma in an Infant

Ischemic stroke (IS) in the pediatric population is extremely rare. In this age group, the occurrence of IS often concurs with underlying congenital heart disease, haematological, metabolic or immunological conditions. In contrast, the association between IS and minor head injury in children has been sparse. The authors report a case of a healthy 10 yrs 8 months old male who was found to have a right middle cerebral artery territory infarct. An extensive medical workup was performed, and it was negative for any previously undiagnosed comorbidities. Given the paucity of such cases, the condition and its management are discussed in corroboration with current literature.

Genomic Diagnoses for Ectopic Intracerebral Calcifications.

Ectopic intracerebral calcifications (EICs) in the basal ganglia, thalamus, cerebellum, or white matter are seen in a variety of disease states or may be found incidentally on brain imaging. The clinical significance and proportion of cases attributable to an underlying genetic cause is unknown. This retrospective cohort study details the clinical, imaging, and genomic findings of 44 patients with EICs who had no established diagnosis despite extensive medical workup. In total, 15 of 44 patients received a diagnosis through genomic testing explaining their calcifications, and 2 more received a diagnosis that has not been previously associated with EICs. Six of the 15 were found to have one of the 4 genes (PDGFB, PDGFRB, SLC20A2, and XPR1) conventionally associated with the phenotypic term "idiopathic basal ganglia calcifications." These findings support the use of genomic testing for symptomatic patients with EICs.

Recurrent Catatonia Onset in an Octogenarian Woman Managed with Electroconvulsive Therapy

<h3>Introduction</h3> Catatonia is a neuropsychiatric syndrome of motor, affective and behavioral dysregulation, accompanied by potential systemic complications with significant morbidity and mortality¹^,². Multiple disorders have been associated with catatonia; these include structural and intrinsic brain diseases, systemic disorders, and psychiatric disorders³,⁴. In the elderly, the prevalence of catatonia fluctuates between 5.5%-11.22% depending on the clinical setting⁵^,⁶. Despite the significant prevalence, there is limited literature regarding the clinical characteristics of recurrent catatonia in the elderly. <h3>Methods</h3> We hereby describe a case of a 91-year-old woman with recurrent major depressive disorder, who presented with recurrent catatonia and comorbidities of atrial fibrillation on therapeutic anticoagulation, hypertension, mild cognitive impairment, and constipation. <h3>Results</h3> The patient's initial presentation occurred at the age of 87 years when she presented with symptoms of catatonia consisting of immobility, mutism, rigidity, negativism, and severe decline in oral intake as the initial manifestation of her first non-psychotic depressive episode. During her initial presentation, catatonia was treated with lorazepam with an adequate response but was transitioned to an acute course of bilateral electroconvulsive therapy (ECT) due to side effects with lorazepam. Her symptoms rapidly resolved after three ECT treatments, and she was on maintenance antidepressant therapy with venlafaxine extended-release 75 mg daily. Catatonia symptoms recurred after two years concomitantly with a depressive episode with psychotic features. The patient responded well once again to the acute course of bilateral ECT during her second episode of depression and required a prolonged course of maintenance ECT every one to three weeks with adequate tolerance. She had a recurrence of catatonia at the age of 91 years in the context of her husband's death. She was managed with an acute course of six ECT treatments and transitioned to weekly maintenance ECT. During all presentations, extensive medical workup was unremarkable for organic causes, and there was no evidence of cognitive decline. Her symptoms of catatonia remitted completely in between depressive episodes. <h3>Conclusions</h3> Catatonia can be a life-threatening emergency. Recurrent catatonia could be a precursor of severe major depressive episodes. This case highlights the importance of identifying catatonia in the elderly, brings awareness to the multiple etiologies to be considered when catatonia arises, including affective disorders, and the potential role of ECT in the management of recurrent catatonia. Further studies are needed regarding the prognosis of recurrent catatonia in the geriatric population. <h3>This research was funded by</h3> None

Psychosomatic or Psychotropic Polypharmacy? A Case Highlighting the Importance of Pharmacokinetics

<h3>Introduction</h3> Psychotropic drugs are among the most common medications prescribed to elderly patients. The number of psychotropic drugs has increased significantly over the past few decades with a proportional increase in adverse medication outcomes including drug-drug interactions. Advancing age is accompanied by changes in pharmacokinetics and pharmacodynamics that put older patients at greater risk for adverse medication outcomes. The majority of psychotropic agents are metabolized by hepatic enzymes with many drug-drug interactions of psychotropics involving the cytochrome P450 enzyme system. The activity of these enzymes can be inhibited or induced by several drugs resulting in clinically significant drug-drug interactions. This case highlights the importance of maintaining a comprehensive understanding of pharmacokinetics and considering the possibility of an adverse drug reaction when evaluating an older patient presenting with new and unexplained symptoms. <h3>Methods</h3> This case report focuses on a geriatric patient with depression and multiple medical comorbidities presenting with unexplained neurological symptoms thought to be psychosomatic in origin. Patient's clinical documents in our electronic medical records system were reviewed. A literature survey was performed on the topic of psychotropic polypharmacy, pharmacokinetics, and the increased risk of adverse medical outcomes in geriatric patients. <h3>Results</h3> A 69 year old female was referred by inpatient neurology to an outpatient geriatric psychiatry clinic for evaluation and management of psychogenic non-epileptic seizures/conversion disorder. She had been experiencing ongoing symptoms of dizziness, dysarthria, and gait instability with multiple serious falls requiring hospitalization. She underwent an extensive and uneventful medical and neurological workup. Immediately prior to onset of symptoms, the patient was taking the maximum dose of amitriptyline at 150mg when bupropion was added and increased to 300mg. Symptoms were suspected to be secondary to amitriptyline toxicity with bupropion (a potent CYP2D6 inhibitor) leading to supratherapeutic amitriptyline levels (a CYP2D6 substrate). Amitriptyline level was obtained and returned supratherapeutic at 362. Both amitriptyline and bupropion were discontinued with immediate resolution of the patient's neurological symptoms. <h3>Conclusions</h3> Polypharmacy is a disease simulator; patients may exhibit conditions caused by medications rather than organic illness. It is crucial for clinicians to be aware of drug interactions and consider whether the development of a new medical condition could be the presentation of an adverse drug event. Many drug interactions are the result of altered CYP450 metabolism, and therapeutic drug doses may cause adverse effects related to increased drug serum levels if a CYP450 enzyme inhibitor is added or if the patient is a genetically poor metabolizer. Knowledge of the most important drugs metabolized by cytochrome P450 enzymes, as well as the most potent inducers and inhibitors, can help to reduce the occurrence of adverse drug events and interactions.

A Case of Unrelenting Facial Swelling

Melkersson-Rosenthal syndrome (MRS) is an uncommon disorder with presenting symptoms that typically involve the face and orofacial structures. It is a difficult diagnosis to make, as it may present with a protracted course of seemingly unrelated dermatological, ocular, and neurological findings. This case report reviews the presentation, workup, and diagnosis of a 75-year-old woman who presented with orofacial swelling, facial palsy, and tongue fissuring that had intermittently recurred over 10 years without a unifying diagnosis. Extensive medical history, photography, laboratory workup, and radiographic imaging were performed to identify the diagnosis of MRS in this patient. Our case highlights the challenge and importance of critically evaluating and consolidating a patient’s history of their present illness, physical examination, and ancillary testing to successfully establish a unifying diagnosis, especially when the diagnosis is relatively rare and diverse in its range of affected populations and symptomatology.

Case report: first symptomatic Candidatus Neoehrlichia mikurensis infection in Slovenia

BackgroundCandidatus Neoehrlichia mikurensis (CNM) is an emerging tick-born pathogen and usually causes symptomatic infection only in immunocompromised patients. Apart from one described case found in the literature where cultivation was successful, all cases so far were diagnosed by using broad-range 16S rDNA PCR.Case presentationOur patient presented with a prolonged febrile state of unknown origin. Clinical presentation, extensive medical workup and classic microbiologic testing were non-conclusive. Several infectious agents and other causes for the febrile state were excluded. In the end, a broad-range 16S rDNA PCR was to be performed to confirm the diagnosis of CNM infection. Treatment was successful with doxycycline.ConclusionsDue to the obscurity of the pathogen, diagnostic workup in CNM is prolonged and challenging. More awareness is need about this emerging infectious disease in countries with high prevalence of tick-borne diseases as standard microbiological methods are not successful in confirming the diagnosis.

P105 Auto-inflammatory idiopathic serositis: an under-characterised phenomenon?

Abstract Background/Aims Serositis is a broad term encompassing inflammation of the pericardium, pleural or peritoneum. Serositis can be secondary to various conditions ranging from systemic lupus erythematous, inflammatory bowel disease and familial Mediterranean fevers. Due to the multitude of precipitating causes, idiopathic serositis is a diagnosis of exclusion and requires extensive medical work-up. This case series details patients who have developed inflammatory serositis without a clear underlying precipitating cause over the past 12 years at the Royal Free Hospital, a tertiary rheumatology centre based in London. Methods Patients were identified retrospectively through electronic records by searching through clinic letters and discharge letters from 2008 to 2020. Search terms including serositis, pericarditis, pleuritis and peritonitis were used. Data collected included their key demographic details, laboratory and pathology investigations as well as the course of treatment and follow up data, including rate of recurrence, complication and survival outcomes. Patients with underlying rheumatological, immunological, or malignant causes were excluded. Results Four hundred and twenty patients over 12 years with serositis were identified with 22 patients classified as idiopathic, auto-inflammatory serositis. Patient demographics indicate a 5:2 female preponderance for the condition with an average age of 61 (range 19-87) and Caucasian ethnicity (68.2%, 15/22). Patients were investigated for underlying causes, including screening for infection and autoimmune conditions, and imaging was performed including computer tomography and positive emission tomography. Autoimmune screening revealed weakly positive autoantibodies of low sensitivity (anti-neutrophil antibodies and rheumatoid factor) in 18.2% (4/22) patients. Treatment options varied, typically with immunosuppression being initiated acutely with steroid therapy, either oral prednisolone or intravenous methylprednisolone, depending on severity of disease presentation before progression to steroid-sparing agents, including mycophenolate motefil (50%, 11/22), cyclophosphamide (13.6%, 3/22) and azathioprine (9.1%, 2/22). Other therapies including colchicine (40.9%, 9/22) were used. Relapse was relatively uncommon once patients were established on steroid-sparing agents (21.7%, 5/22). However, Anakinra (interleukin-1 receptor antagonist) was initiated in patients with recurrent relapses (9.1%, 2/22) with good response. One patient died through bronchopneumonia following cyclophosphamide therapy. Of note, pericardial stripping was required in patients with haemodynamic compromise during admission in 3/22 (13.6%) with 1 patient in this subset subsequently requiring Anakinra therapy. Conclusion Auto-inflammatory idiopathic serositis appears to be distinct category of serositis affecting predominantly middle aged to elderly female Caucasian patients, without underlying connective tissue disease, requiring prolonged therapy with immunosuppressive agents, which can be characterised by involvement of multiple serous membranes and/or recurrent episodes of serositis. This condition appears to respond well to immune suppression with steroids, steroid-sparing agents and Anakinra. Further work will be required to characterise and classify this condition and to establish treatment guidelines. Disclosure K. Pillai: None. J. Perera: None. D. Kurzeja: None. S. Amin: None. M. Choudhury: None. R. Stratton: None.

ECT FOR THE TREATMENT OF SOMATIC SYMPTOM DISORDER AND UNINTENTIONAL WEIGHT LOSS IN OLDER ADULTS: 2 CASE REPORTS

Introduction Somatoform disorders occur in up to 13% of those over age 65 and symptoms often cause significant impairment and disability (Hilderink et al. 2013; Leong et al. 2015). Unintentional weight loss in the elderly is also common and associated with increased morbidity and mortality (Hajek et al. 2017; McMinn et al. 2011). Studies show that depression is often comorbid with both somatoform disorders and unintentional weight loss in the elderly (Leong et al. 2015; Thompson and Morris 1991). Electroconvulsive therapy (ECT) is an effective treatment for severe depression, especially in older adults. However, there is limited of evidence regarding the use of ECT in elderly patients for the treatment of somatic symptom disorders (with predominant GI symptoms) or unintentional weight loss. Three case reports have been documented of women in their seventh decade of life with functional GI symptoms that responded to ECT (Cooper 2016; Cybulska 1997; Dols et al. 2012). Leong et?al reported a case series of 28 patients with somatic symptoms disorder who were successfully treated with ECT, examining the primary endpoint of improvement in somatic symptoms. However, only 2 of these cases included functional GI symptoms, and neither of the patients were over the age of 50 (Leong et al. 2015). Methods We report 2 cases of patients over age 65 who were psychiatrically hospitalized for co-morbid depressive symptoms, somatic symptom disorder (with predominant GI symptoms), and unintentional weight loss. Due to inability to tolerate medications and severity of depressive and somatic symptoms, both received an acute course of ECT. Results Both patients had gastrointestinal medical history (dumping syndrome, gastroparesis, irritable bowel syndrome), but extensive medical workup did not account for the severity of somatic symptoms, most notably nausea, or weight loss at the time of psychiatric admission. Both patients had diagnoses of major depressive episodes with PHQ-9 scores in the moderate range on admission (14 and 15). Both patients completed a full acute course of bitemporal ECT and reported subjective improvement in their somatic symptoms, appetite, and depressive symptoms (PQH-9 scores 0 and 1 respectively) following the course of ECT. Both also objectively gained a weight from time of admission to long-term follow-up without subsequent ECT treatment. Patient A's BMI on admission was 17.1 and increased to 23.81 at 8 month follow-up. Patient B's BMI on admission was 25.6 and increased to 29.17 at 7 month follow-up. In these two cases, ECT was well tolerated with reported side effects of mild headache, body aches, and mild to moderate memory loss. Of note, both patients had a rapid and robust response to ECT with remission of depressive symptoms and significant improvement in gastrointestinal symptoms after 5 bitemporal treatments. Conclusions Due to the higher rate of co-morbid medical conditions that could potentially contribute to somatic symptoms, it can be more challenging to diagnose somatic symptoms disorder in older adults (Wijeratne et al. 2003). When older adults present with somatic symptoms that are not fully explained by medical pathology, somatic symptom disorder should be considered and appropriate treatment initiated. Given the adverse outcomes and higher mortality in elderly individuals with unexplained weight loss, timely treatment is imperative. This case report suggests that ECT may be a well-tolerated and highly effective treatment for elderly patients with medically unexplained gastrointestinal disorders/somatic symptom disorder and significant weight loss with comorbid depression. This research was funded by: Not Applicable

Dacryocystitis provoked by recurrence of extramedullary plasmacytoma of the orbit: a case report

Extramedullary plasmacytoma (EMP) of the orbit is an extremely rare tumor, which frequently manifests with nonspecific symptoms. In the case reported, the symptoms of relapsing dacryocystitis appeared before the diagnosis of orbital EMP in a 60-year-old man. Moreover, EMP of the right submandibular gland that had been excised and treated by radiotherapy preceded the orbital lesion by seven years. The present report emphasizes the importance of an extensive medical workup to rule out multiple myeloma or other malignant lymphoproliferative diseases, because their treatment and prognosis are very different. Additionally, it is necessary to consider all tumors that can provoke relapsing dacryocystits.

Splenomegaly - Diagnostic validity, work-up, and underlying causes.

PurposeOur aim was to assess the validity of the ICD-10 code for splenomegaly in the Danish National Registry of Patients (DNRP), as well as to investigate which underlying diseases explained the observed splenomegaly.BackgroundSplenomegaly is a common finding in patients referred to an internal medical department and can be caused by a large spectrum of diseases, including haematological diseases and liver cirrhosis. However, some patients remain without a causal diagnosis, despite extensive medical work-up.Patients and methodsWe identified 129 patients through the DNRP, that had been given the ICD-10 splenomegaly diagnosis code in 1994–2013 at Odense University Hospital, Denmark, excluding patients with prior splenomegaly, malignant haematological neoplasia or liver cirrhosis. Medical records were reviewed for validity of the splenomegaly diagnosis, diagnostic work-up, and the underlying disease was determined. The positive predictive value (PPV) with 95% confidence interval (CI) was calculated for the splenomegaly diagnosis code. Patients with idiopathic splenomegaly in on-going follow-up were also invited to be investigated for Gaucher disease.ResultsThe overall PPV was 92% (95% CI: 85, 96). Haematological diseases were the underlying causal diagnosis in 39%; hepatic diseases in 18%, infectious disease in 10% and other diseases in 8%. 25% of patients with splenomegaly remained without a causal diagnosis. Lymphoma was the most common haematological causal diagnosis and liver cirrhosis the most common hepatic causal diagnosis. None of the investigated patients with idiopathic splenomegaly had Gaucher disease.ConclusionOur findings show that the splenomegaly diagnosis in the DNRP is valid and can be used in registry-based studies. However, because of suspected significant under-coding, it should be considered if supplementary data sources should be used in addition, in order to attain a more representative population. Haematological diseases were the most common cause, however in a large fraction of patients no causal diagnosis was found.

ACR Appropriateness Criteria Fever Without Source or Unknown Origin—Child

The cause of fever in a child can often be determined from history, physical examination, and laboratory tests; infections account for the majority of cases. Yet in 20%, no apparent cause can be found, designated as fever without source (FWS). The yield of chest radiography in children with FWS is low, and it is usually not appropriate. However, in children with respiratory signs, high fever (>39°C), or marked leukocytosis (≥20,000/mm3), chest radiography is usually appropriate, as it has a higher yield in detecting clinically occult pneumonia. In newborns with FWS, there is higher risk for serious bacterial infection, and the routine use of chest radiography is controversial. In children with neutropenia, fever is a major concern. In some clinical circumstances, such as after hematopoietic stem cell transplantation, chest CT scan may be appropriate even if the results of chest radiography are negative or nonspecific, as it has higher sensitivity and can demonstrate specific findings (such as lung nodule and “halo sign”) that can guide management. In a child with prolonged fever of unknown origin despite extensive medical workup (fever of unknown origin), diagnosis is usually dependent on clinical and laboratory studies, and imaging tests have low yield.The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.

The Data Quality of Splenomegaly ICD-10 Diagnoses in a Population-Based Hospital Discharge Registry: A Preliminary Analysis

BackgroundSplenomegaly is a common finding in general medical patients. The cause of splenomegaly is often found outside the spleen and therefore an extensive diagnostic medical work-up is frequently required. There is very little data on the distribution of causal diagnoses and, to the best of our knowledge, accurate data on the risk of hematological malignancies, hepatic diseases and storage diseases among patients with splenomegaly have never been reported. The aim of this pilot study is to investigate the validity of the splenomegaly ICD-10 diagnoses, in order to ascertain if a nationwide registry study of the above stated risks can be undertaken, and to investigate which causal diagnoses are most common.MethodThe study was conducted as a cohort with data from the Danish health care system. Patients with an ICD-10 diagnosis of splenomegaly at Odense University Hospital (OUH) from January 1st 1994 to December 31st 2013 were identified through the Danish National Registry of Patients (DNRP). Patients with a known diagnosis of a malignant hematological disease, liver cirrhosis, or splenomegaly before January 1st 1994 were excluded. The clinical records from OUH provided data, and splenomegaly was, in accordance with current literature, defined as; 1. clinically palpable spleen by abdominal examination on two occasions or by two physicians on the same occasion, 2. the longest diameter being ≥13 cm by ultrasonography or >10 cm by computed tomography or 3. wet weight >291g at excision or autopsy. The analyses presented in this abstract are interim analyses.ResultsAt the time of analysis 65 out of 132 (49.2%) medical records had been reviewed. Two patients with diagnoses of chronic myeloproliferative neoplasms prior to 1994 were excluded. The mean age of the population at the time of splenomegaly diagnosis was 55 years. 63% of the patients were males and 37% were females. In 56 of the 63 patients the splenomegaly diagnosis was considered valid, the positive predictive value (PPV) was 88.9% (95% CI: 78.4, 95.4). The mean time from confirmation of splenomegaly until it was coded was 10 months; distribution can be seen in figure 1. The most common method for determining enlarged spleen, as seen in table 1, was ultrasonic imaging. Table 2 shows that hematological diseases was the most common underlying causal disease group (50%), followed by hepatic diseases (25%), other diseases (12.5%) and idiopathic causes (12.5%). Lymphomas was the single most common causal diagnosis (n=12) and liver cirrhosis the second most common (n=9).ConclusionThe high PPV indicates that the ICD-10 splenomegaly diagnosis is valid and together with the relatively short delay of coding it indicates that registry information could be used in future studies to estimate risks of hematological malignancies, liver cirrhosis and storage diseases among patients with an enlarged spleen.Table 1Methods of Determining Splenomegaly(n = 56)(%)MethodPalpable47.1≥13 cm by US3358.9>10 cm by CT1628.6≥13 cm by other method of scanning23.6>291 g by excision or autopsy11.8Total56100Table 2Underlying Causes of SplenomegalyDiagnostic groupHepaticHematologicOtherUnknownTotalDiseaseLymphoma-12--12MPN-7--7CLL/HCL-4--4Hemolytic disease-1--1Other hematological disease-4--4Other cancer1---1Liver cirrhosis9---9Portal hypertension3---3Other liver disease1---1Infection--3-3Inflammatory disease--1-1Primary splenic--1-1Other disease--2-2Unknown/idiopathic---77Total, n14287756Total, %25.050.012.512.5100.0 [Display omitted] DisclosuresCurovic Rotbain:Genzyme: Research Funding. Lund Hansen:Genzyme: Research Funding. Frederiksen:Genzyme: Research Funding.

Molecular assessment of differences in the duodenal microbiome in subjects with irritable bowel syndrome

Objective. Breath testing and duodenal culture studies suggest that a significant proportion of irritable bowel syndrome (IBS) patients have small intestinal bacterial overgrowth. In this study, we extended these data through 16S rDNA amplicon sequencing and quantitative PCR (qPCR) analyses of duodenal aspirates from a large cohort of IBS, non-IBS and control subjects. Materials and methods. Consecutive subjects presenting for esophagogastroduodenoscopy only and healthy controls were recruited. Exclusion criteria included recent antibiotic or probiotic use. Following extensive medical work-up, patients were evaluated for symptoms of IBS. DNAs were isolated from duodenal aspirates obtained during endoscopy. Microbial populations in a subset of IBS subjects and controls were compared by 16S profiling. Duodenal microbes were then quantitated in the entire cohort by qPCR and the results compared with quantitative live culture data. Results. A total of 258 subjects were recruited (21 healthy, 163 non-healthy non-IBS, and 74 IBS). 16S profiling in five IBS and five control subjects revealed significantly lower microbial diversity in the duodenum in IBS, with significant alterations in 12 genera (false discovery rate < 0.15), including overrepresentation of Escherichia/Shigella (p = 0.005) and Aeromonas (p = 0.051) and underrepresentation of Acinetobacter (p = 0.024), Citrobacter (p = 0.031) and Microvirgula (p = 0.036). qPCR in all 258 subjects confirmed greater levels of Escherichia coli in IBS and also revealed increases in Klebsiella spp, which correlated strongly with quantitative culture data. Conclusions. 16S rDNA sequencing confirms microbial overgrowth in the small bowel in IBS, with a concomitant reduction in diversity. qPCR supports alterations in specific microbial populations in IBS.

Aripiprazole-Associated Hiccups

Aripiprazole’s pharmacologic properties (including dopamine 2 and 5-hydroxytryptamine 1A [5HT1A] receptor partial agonism and 5HT2A receptors antagonism) may be associated with the onset of hiccups. Case Description: A 21-year-old, antipsychotic-naive patient with bipolar I disorder and remote brain trauma developed persistent hiccups following aripiprazole titration. Despite trials of metoclopramide and chlorpromazine, hiccups continued. Remission of hiccups occurred with discontinuation of aripiprazole. Discussion: The exact etiology of hiccups is unknown but likely involves dopamine and/or γ-butyric acid. Highlighting the uncertainty related to drug-induced hiccups is the fact that multiple antipsychotics have been reported to not only induce hiccups but also to alleviate them. As the development of persistent hiccups may result in extensive medical workup, clinicians should be aware of drug-associated causes including aripiprazole.

Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports

Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental disorders in general are referred to the Child Development Center for a multidisciplinary assessment, investigation, treatment and followup. We report three infants with an initial diagnosis of developmental delays, recovery of normal development following intervention in a multidisciplinary center, and subsequent regression into classic autism following their discharge from the program. An extensive medical workup was noncontributory. This unusual presentation, to our knowledge not reported previously, should be recognized by professionals involved in child development and psychiatry.

The horse with stripes: a case of anti-NMDA receptor encephalitis.

The horse with stripes: a case of anti-NMDA receptor encephalitis.

The Horse With Stripes

The Horse With Stripes

Post-Pump Chorea—Choreiform Movements Developing after Pulmonary Thromboendarterectomy for Chronic Pulmonary Hypertension Presenting as “Functional” Movement Disorder

Movement disorders are a group of diseases which affect ability to produce and control bodily movement. The movement disorders get labeled as “functional” in nature if organic cause could not be found after extensive medical work-up and features from the history and examination are inconsistent with a known neurologic problem. There is tendency to miss an organic cause of a movement disorder if it is too rare to attract much attention. This usually results in referral for psychiatric evaluation. The implications are devastating. The potentially treatable neurologic cause and disability due to distressing symptoms can go untreated, and incorrect mental health diagnosis can cause demoralization and stigmatization. We report here such a case where the patient was initially diagnosed with functional movement disorder but further evaluation and literature search revealed a rare neurologic condition called “post-pump chorea” syndrome.

Bone Marrow Donation Between Siblings Living in Different Families

Minor siblings are often considered as potential bone marrow donors when a child needs a bone marrow transplant. The practice of using minors as bone marrow donors is ethically controversial, because there is some risk to the donor—and some pain and suffering—but no medical benefit. Nevertheless, most courts and most ethics committees have sanctioned bone marrow donation procedures as long as the donor and the recipient are in the same family and have an emotional tie. Presented here is a case that pushes the limits of those criteria; we asked Drs Doug Diekema, Steve Joffe, and Andrea Vandeven to comment on the ethical issues raised by this unusual case. Dr Diekema is immediate past-chair of the American Academy of Pediatrics Committee on Bioethics; Dr Joffe is a pediatric oncologist at Boston Children's Hospital; and Dr Vandeven is a member of the child-protective-services (CPS) team at Children's Mercy Hospital in Kansas City, Missouri. K. B. was a 7-week-old girl who was brought to the emergency department for poor weight gain. She was 3 oz over her birth weight. Her parents reported that she had been taking 2 oz of formula every 2 to 3 hours. However, doctors in the emergency department noted that the parents did not know how to feed her and fell asleep while she was crying. CPS was called. They were familiar with the family, because a 17-month-old sister had been previously removed from the home for neglect and placed with a foster family. After an extensive medical workup, K. B. was diagnosed with infantile osteopetrosis. The only treatment for this disease is a bone marrow transplant. Children who do not receive a transplant usually die in the first decade of life. The foster family that had taken the 17-month-old sibling were planning to adopt her but were … Address correspondence to John D. Lantos, MD, Department of Pediatrics, Children's Mercy Hospital, 2401 Gillham Rd, Kansas City, MO 64108. E-mail: jlantos{at}cmh.edu