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Concept: Medical sign

151

Mast cell activation disease (MCAD) is a term referring to a heterogeneous group of disorders characterized by aberrant release of variable subsets of mast cell (MC) mediators together with accumulation of either morphologically altered and immunohistochemically identifiable mutated MCs due to MC proliferation (systemic mastocytosis [SM] and MC leukemia [MCL]) or morphologically ordinary MCs due to decreased apoptosis (MC activation syndrome [MCAS] and well-differentiated SM). Clinical signs and symptoms in MCAD vary depending on disease subtype and result from excessive mediator release by MCs and, in aggressive forms, from organ failure related to MC infiltration. In most cases, treatment of MCAD is directed primarily at controlling the symptoms associated with MC mediator release. In advanced forms, such as aggressive SM and MCL, agents targeting MC proliferation such as kinase inhibitors may be provided. Targeted therapies aimed at blocking mutant protein variants and/or downstream signaling pathways are currently being developed. Other targets, such as specific surface antigens expressed on neoplastic MCs, might be considered for the development of future therapies. Since clinicians are often underprepared to evaluate, diagnose, and effectively treat this clinically heterogeneous disease, we seek to familiarize clinicians with MCAD and review current and future treatment approaches.

Concepts: Immune system, DNA, Protein, Cancer, Mast cell, Symptom, Medical sign, Mastocytosis

147

Clinical signs and symptoms of different airway pathogens are generally indistinguishable, making laboratory tests essential for clinical decisions regarding isolation and antiviral therapy. Immunochromatographic tests (ICT) and direct immunofluorescence assays (DFA) have lower sensitivities and specificities than molecular assays, but have the advantage of quick turnaround times and ease-of-use.

Concepts: Virus, Chemistry, Symptom, Antiviral drug, Influenza, Assay, Medical sign, Human respiratory syncytial virus

29

Anaphylaxis is an acute severe reaction involving multiple systems that results from a rapid release of inflammatory mediators. Patients with asthma and prior allergic reactions are at risk for anaphylaxis. Infants can present a special challenge, as the hallmark symptoms and signs of anaphylaxis may be mistaken as normal findings. These include drooling, vomiting or diarrhea, scratching, and drowsiness. The clinical manifestations of anaphylaxis are broad, as a result of it being a systemic response to an external agent. Among infants and children, there are often respiratory and cutaneous findings. There also can be subtle signs and symptoms, which can often be missed or the findings misinterpreted as normal for developmental age. The incidence of anaphylaxis has increased globally among children presenting with allergic reactions. Early recognition of the signs and symptoms is crucial to effective diagnosis and treatment. This is particularly true among infants 13 months of age or younger who are nonverbal and may have subtle signs and symptoms of a life-threatening reaction to allergens. The purpose of this article is to highlight the differential clinical presentations of young children with anaphylaxis.

Concepts: Immune system, Asthma, Mast cell, Symptoms, Symptom, Atopy, Medical sign, Allergen immunotherapy

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STUDY DESIGN.: Retrospective case series. OBJECTIVE.: This report provides long-term follow-up on athletes who have sustained a cervical spinal cord contusion. Their magnetic resonance (MR) image is correlated with clinical signs and symptoms. Mechanism of injury and a hypothesis of etiology are reported. SUMMARY OF BACKGROUND DATA.: Current return-to-play criteria for athletes who sustain a cervical cord contusion are based on expert opinion only. Decision making for this clinical situation in athletes carries significant clinical, legal, and economic ramifications. The natural history, clinical correlation, and effect of surgery for athletic cervical cord contusions have not been established. The mechanism of injury for this entity has historically emphasized axial loading. METHODS.: The case histories, physical examination, and MR images were reviewed for 4 professional athletes. All athletes had documented cervical cord contusions. None of the athletes had an acute disc herniation, fracture, instability, or focal cord compression. All athletes were contacted by telephone to assess symptoms at a minimum follow-up of 2 years after injury. RESULTS.: All 4 athletes had congenital stenosis, defined as lack of CSF signal around the cord on an MR image. All underwent anterior fusions at the level of their contusion. In follow-up, 2 athletes developed new contusions: one more than 5 years later, adjacent to a fusion; and 1, 2 years later, not adjacent to his previous fusion. No athlete developed permanent neurological sequelae. The presence of a contusion did not correlate with athletes' signs and symptoms. The mechanism of injury was hyperextension. CONCLUSION.: It is hypothesized that the horizontal facet orientation of the C3-C4 level, congenital stenosis, and relative hypermobility in extension are the contributing factors in the cause of this clinical entity. An anterior fusion at the C3-C4 level seems to be the most reliable method of preventing or delaying the return of symptoms. Return-to-play guidelines should emphasize the athletes' history of symptoms in context with their MR image because there is poor correlation between the finding of a contusion and the clinical presentation. Recurrence of symptoms is common and the long-term consequences of repeated episodes remain unknown.

Concepts: Spinal cord, Symptom, Magnetic resonance imaging, Medical diagnosis, Medical signs, Correlation and dependence, Pearson product-moment correlation coefficient, Medical sign

28

Fever of unknown origin (FUO) is a common medical diagnosis by exclusion. In these cases, fever is the predominant symptom of an underlying disease. We describe the case of a 60-year old patient with FUO. Intensive search for the causative disease was carried out. Unfortunately all the investigations remained fruitless. Eventually, the patient was discharged with the diagnosis of common variable immunodeficiency, based on hypogammaglobulinemia and Cytomegalovirus replication. Two weeks after discharge, the patient presented in the outpatient clinic with the typical symptoms of giant cell arteriitis (GCA). The diagnosis was confirmed by a repeated ultrasound imaging and biopsy findings. The clinical condition of the patient improved rapidly after beginning of treatment with steroids. This case illustrates the importance of a longitudinal observation of patients presenting with FUO if the diagnosis remains unclear after intensive investigations.

Concepts: Medical terms, Patient, Medical imaging, Symptoms, Symptom, Physician, Medical sign, Fever of unknown origin

28

Object This study aims to show the relationship between clinical outcome in patients who underwent surgical decompression for Chiari malformation (CM) and postoperative imaging studies, with particular emphasis on the subarachnoid cisterns of the posterior fossa. Methods One hundred seventy-seven patients with CM, including 97 with syringomyelia, underwent posterior fossa decompressive surgery. Both the dura and arachnoid were opened in 150 of these patients, and 135 underwent reduction of the cerebellar tonsils. The patients' clinical signs and symptoms were evaluated at 2 time points after surgery. Their imaging studies were analyzed specifically for the size of the retrotonsillar and subtonsillar cisterns and the syringomyelic cavities. The authors evaluated the relationship between these imaging findings and clinical parameters. Results Clinical improvement correlated strongly with enlargement of the subarachnoid cisterns, and enlargement of the cisterns also correlated with reduction in size of the syrinx cavities. Symptoms related to syringomyelia responded to reduction in size of the syrinx cavities. Conclusions Surgical decompression of the posterior fossa should aim to create relatively large subarachnoid cisterns and reduce the size of the syrinx cavity. Reduction of the cerebellar tonsils by surgical means, together with duraplasty, achieves this goal and thereby improves the clinical outcome for patients with CM. An incidental observation of the study is that obesity increases the likelihood of headache in patients with CM.

Concepts: Medicine, Symptom, Medical diagnosis, Medical sign, Meninges, Arnold-Chiari malformation, Syringomyelia, Dura mater

28

Hemophagocytic lymphohistiocytosis (HLH) is a severe inflammatory disorder characterized by activation and proliferation of lymphocytes and histiocytes with cytokine release and uncontrolled hemophagocytosis, especially late in the course of the disease. Clinical features include relapsing fevers, hepatosplenomegaly, cytopenias, lymphadenopathy, and coagulopathy. The diagnosis can be challenging, as the early signs and symptoms are nonspecific and no specific laboratory tests exist. This syndrome is frequently not recognized and has a significant mortality rate. Typical scenarios in which HLH should be considered include mononucleosis (fever, hepatosplenomegaly, and lymphadenopathy) in an infant or young child, aseptic meningitis associated with cytopenias, or a viral syndrome-like illness with cytopenias and lymphadenopathy or splenomegaly, for example. Our approach includes measuring a ferritin level as a screening tool early in the course of such an illness. Two cases of HLH are reviewed, illustrating the frequent complexity of these cases and potential pitfalls to making a prompt diagnosis.

Concepts: Inflammation, Epidemiology, Hematology, Fever, Hemophagocytic lymphohistiocytosis, Histiocytosis, Medical sign, Hemophagocytosis

27

We have reviewed 47 drug rash with eosinophilia and systemic symptoms (DRESS) cases associated to strontium ranelate reported up to March 2011 to the Marketing Holder. The main signs were skin rash, fever, face oedema hypereosinophilia and liver involvement. For ten patients, persistence of DRESS symptoms was reported at the latest news obtained, and DRESS was identified as the direct cause of death in one case. The maximum incidence of DRESS associated with strontium ranelate was 1/24,112 [95 % CI (1/14,859; 1/42,194)] newly treated patients in France. Because DRESS is a severe drug reaction, the occurrence of a rash in a patient treated with strontium ranelate should lead to prompt and permanent treatment discontinuation. INTRODUCTION: This study aims to describe cases of DRESS reported to the Marketing Authorisation Holder worldwide for patients receiving strontium ranelate by practitioner or by regulatory authorities. METHODS: Spontaneously reported hypersensitivity events from the strontium ranelate pharmacovigilance database since marketing authorisation (2004) to March 2011 were reviewed by an expert committee. Cases of DRESS were classified as established, probable, possible or no DRESS according to expert judgement. National incidences of DRESS were estimated in relation to the number of newly treated patients. RESULTS: Up to March 2011, 325 cases of strontium ranelate-induced hypersensitivity events were assessed from which 47 DRESS cases were confirmed. Mean age was 68.7 years and besides skin rash, the main signs and symptoms were hypereosinophilia, liver involvement, fever and face oedema. Median time to skin reaction was 33.5 days after treatment start. Most patients (62 %) recovered at the time of reporting or were recovering. For ten patients, persistence of DRESS symptoms was reported at the latest news obtained. Relapses were observed in a single case. The mortality rate was 8.5 %. The maximum incidence of DRESS associated with strontium ranelate was 1/24,112 [95 % CI (1/14,859; 1/42,194)] newly treated patients in France. CONCLUSION: DRESS is a well-identified and characterised adverse reaction to strontium ranelate. This risk should be integrated in the risk-benefit balance evaluation of patient treatment, and the occurrence of a rash should lead to prompt and permanent treatment discontinuation with careful follow-up.

Concepts: Pharmacology, Mortality rate, Medical terms, Median, Adverse drug reaction, Medical sign, Strontium ranelate, Rash

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OBJECTIVE.-: We describe the epidemiology and clinical features of scorpion stings presenting to an emergency department in Singapore, including that of the venomous species Isometrus maculatus. A management approach to scorpion stings is proposed. METHODS.-: A retrospective study was done for patients from 2004 to 2009. Cases were identified by searching through emergency department records with ICD code E905, inpatient records, and the hospital toxicology service records. Identification of species was assisted by the Venom and Toxin research program at the National University of Singapore. RESULTS.-: A total of 13 cases of scorpion stings were identified. Eleven stings occurred locally, and the remaining 2 stings occurred in neighboring countries. The most common presenting symptoms were pain (92%), numbness (31%), and weakness (23%) confined to the region of the sting. The most common clinical signs recorded were redness (77%), tenderness (77%), and swelling (46%). Only 2 patients had significant alterations of vital signs: 1 had hypertension and the other had hypotension from anaphylaxis. Three patients experienced complications (abscess formation, anaphylaxis, cellulitis) requiring inpatient management. There were no fatalities, and all patients made a good recovery. Three cases were identified to be stings from I maculatus. These cases occurred locally, and mainly had clinical features of pain, redness, and mild regional numbness. CONCLUSIONS.-: Scorpion stings are uncommon presentations to the emergency department. Most stings cause local reactions that can be managed with supportive treatment. Stings by I maculatus were observed to cause mild, self-limiting effects.

Concepts: Hospital, Blood pressure, Symptom, Medical signs, Singapore, Medical sign, Venom, Scorpion

26

We examined and evaluated the clinical characteristics of patients who had come to the Allergological and Occupational Dermatology unit in Florence with severe CHE refractory to potent topical corticosteroids. We evaluated the efficacy and safety of alitretinoin and we analyzed the response in the three months of follow-up in the group of patients who completed the cycle of therapy. Improvement in clinical signs and symptoms was assessed using mTLSS and PGA.

Concepts: Medicine, Asthma, Symptom, Assessment, Topical, Medical sign, Topical steroid, Corticosteroids