scholarly journals Hypodiploid B-Lymphoblastic Leukemia Presenting as an Isolated Orbital Mass Prior to Systemic Involvement: A Case Report and Review of the Literature

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 25
Author(s):  
Linyan Wang ◽  
Davin C. Ashraf ◽  
Benyam Kinde ◽  
Robert S. Ohgami ◽  
Jyoti Kumar ◽  
...  

We describe a 4-year-old boy who presented with progressive right periorbital edema and proptosis, with no systemic symptoms, who was found to have B-lymphoblastic leukemia (B-ALL). Magnetic resonance imaging (MRI) showed an enhancing mass centered in the right superolateral extraconal orbit. Orbital biopsy was consistent with B-ALL (CD99, TdT, LCA cocktail, CD34, CD79, CD10, PAX5, MIB1 positive; CD3, CD20 negative). A subsequent bone marrow aspirate confirmed a diagnosis of B-ALL with 80% blasts by flow cytometry and haploid cytogenetic findings. The patient improved clinically after chemotherapy. There are seven cases previously reported in the literature with hematogenous orbital masses at initial presentation of childhood ALL, but all with systemic symptoms or an abnormal complete blood count (CBC) at presentation. Our case is the first report in which an orbital mass preceded detectable systemic or laboratory evidence of ALL. This patient highlights the importance of differentiating benign causes of eyelid swelling from malignant ones.

2021 ◽  
Vol 19 (1) ◽  
pp. 81-85
Author(s):  
Berrin Erok ◽  
◽  
Kenan Kıbıcı ◽  

Introduction. Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma with 10 % of the cases occuring in the orbit. Patients often present with a rapidly developing proptosis and globe displacement. Aim. We aimed to present a very rare presentation of orbital RMS, with a giant exophytic orbital mass, a very rare presentation occuring in more advanced cases. Description of the case. A 3-year old girl presented to our hospital with a rapidly enlarging tissue like ulcerative mass. Her past medical history was remarkable with the diagnosis of embryonal rhabdomyosarcoma (RMS) and treatment with chemoradiotherapy at the age of 15 months. On magnetic resonance imaging (MRI), there was a giant heterogenously enhancing mass filling the right orbit and extending to the intracranial region. Li Fraumeni syndrome (LFS) was considered due to her sister death from neuroblastoma at an early age. Cytogenetic analysis revealed mutations of p53 gene, which supported our consideration. Conclusion. RMS is a highly malignant tumor which usually occurs sporadiacally. However, some rare syndromes are associated with increased incidence of RMS, such as LFS.


2020 ◽  
Vol 10 (3) ◽  
pp. 105-107
Author(s):  
Turgay Demir ◽  
Filiz Koc ◽  
Seyda Erdoğan

Introduction: Idiopathic intracranial hypertension (IIH) is a rare clinical condition in which an increase in intracranial pressure is seen without a lesion in the head. The association of IIH with haematological malignencies is not well known. Case: We present 19-year-old male with frequent episodes of headache that lasted up to 24 hours, localized to the bilateral temporal region accompanied with nausea and vomiting for two months. On the neurological exam, the lateral gaze was slightly restricted. Ophthalmological exam revealed bilateral papilledema, which was more pronounced on the right. Bilateral concentric constriction, more pronounced on the right , was observed on the computerized visual field exam. Brain Magnetic Resonance Imaging (MRI) showed swelling in the optic nerve sheats, rather than on the right. In the analysis of cerebrospinal fluid (CSF), the opening pressure was 370 mmH2 Cytological examination of the CSF showed atypical lymphoid cells. The patient was diagnosed as precursor lymphoblastic leukemia/lymphoma. Conclusion: Acute leukemia–induced clinical IIH has not been reported in the literature up to now, and the present case study will contribute to the literature in this regard. This phenomenon will be noteworthy for clinicians who encounter high CSF opening pressure, abnormal CSF biochemistry, and substantial cytology in cases presenting with clinical IIH.


2018 ◽  
Vol 10 (01) ◽  
pp. 085-088
Author(s):  
Chidambharam Choccalingam

Abstract PURPOSE: Automated hematology analyzers yield a complete hematological profile including a complete blood count and a differential white blood cell count. The differential count is based on analyses of three parameters, namely, volume, conductance, and scatter (VCS). We aimed to evaluate the VCS parameters, histograms, and scatterplots of neoplastic and nonneoplastic lymphocytes. MATERIAL AND METHODS: Patients were grouped into four categories, namely, acute lymphoblastic leukemia (ALL), chronic systemic disorders, chronic lymphocytic leukemia (CLL), and acute viral disease. Lymphocytes from all four groups were compared with lymphocytes from normal participants. RESULTS AND CONCLUSIONS: The histogram for acute viral disease showed a trough at T1, which was slightly obliterated, and the F1 curve mildly extended to the right. The T1 for ALL was replaced with a peak at >40% of the preset limit. The F1 peak was shifted to left for CLL. The scatterplot for viral disease showed lymphocytes extending to the variant lymphocyte window. The lymphocytes of ALL extended to the blast window, with both increase in volume and mild increase in scatter. The lymphocytes in CLL were smaller and located below the normal lymphocyte region. Mean lymphocyte volume was significantly increased in ALL and was significantly decreased in CLL. Mean lymphocyte conductance was significantly increased in CLL and significantly decreased in both acute viral disease and ALL. Mean lymphocyte scatter was significantly decreased in acute viral disease and significantly increased in ALL.


2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Lalita Sathitsamitphong ◽  
Rungrote Natesirinilkul ◽  
Worawut Choeyprasert ◽  
Pimlak Charoenkwan

Orbital involvement is one of the extramedullary manifestations in acute leukemia. It is common in acute myeloid leukemia, but rare in acute lymphoblastic leukemia (ALL). We described a 3-year-old girl who presented with progressive proptosis of the right eye and was later diagnosed with precursor B-cell ALL. Initial blood count showed Hb 6.9 g/dL, WBC 42,000/mm3, lymphoblast 50%, and platelet count 185,000/mm3. Bone marrow aspiration revealed 90% lymphoblasts with positivity for CD10, CD19, CD20, CD22, and HLA-DR markers. Computed tomography (CT) scan of the brain and orbit revealed a homogeneous enhancing mass involving the right orbit with intracranial extension. The cytogenetic study showed 46,XX chromosomes. After 4 weeks of induction chemotherapy for very high-risk ALL, although the bone marrow was in remission, the proptosis was partially resolved. CT scan confirmed a decrease in size of the right orbital mass and degree of intracranial extension. Unfortunately, the patient abandoned the treatment after the induction chemotherapy. The actual incidence of orbital involvement in ALL is unknown. Previous case reports describe diverse manifestations of orbital involvement in ALL. The involvement may be unilateral or bilateral, may occur at first diagnosis or at relapse, and may be seen in isolation or with other systemic symptoms. There is no standard treatment protocol. Chemotherapy with or without radiotherapy is generally suggested. The role of upfront hematopoietic stem cell transplantation remains inconclusive. The previously reported prognosis of ALL with orbital involvement is poor.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Abebe Melese ◽  
Musa Mohammed ◽  
Worku Ketema ◽  
Alemayehu Toma

Background. Trichinellosis develops after ingestion of Trichinella cysts in pork meat. It is one of the most important parasitic human pathogens in the world. It is, however, underreported in part because none of the clinical manifestations are pathognomonic. The primary mode of transmission is ingestion of raw meat. Among the symptoms are muscle pain, swelling, and myopathy. High-grade fever and other systemic symptoms are not unusual. The hallmarks are ophthalmic and musculoskeletal manifestations, particularly conjunctival haemorrhage with periorbital edema and subungual splinter haemorrhage. Although the majority of infections are mild and asymptomatic, severe infections can result in enteritis, periorbital edema, and myositis. Presentation of the Case. A 14-year-old male patient from Oromia Region, Arsi Zone, West Arsi Zone, Bishan Guracha area, which is almost completely encircled by mountains, presented with a complaint of worsening easy fatigability and asymmetric right thigh enlargement lasting one month. The pertinent physical examinations on presentation were puffy face and eyes, and there was a 4 cm by 5 cm mass on the right lateral thigh with no overlying skin colour change, on-tender, and no discharge. Eosinophilia of 14% was noticed on the complete blood count. The definitive diagnosis of trichinellosis was made by muscle biopsy. He was then managed with albendazole and prednisolone and improved. Conclusion. Patients with periorbital edema, myositis, or eosinophilia should be evaluated for trichinellosis. Individuals who have these symptoms and a history of eating pork meat should be suspected of having trichinellosis. Before eating raw pork meat, it is recommended that it be cooked properly.


2009 ◽  
Vol 54 (No. 10) ◽  
pp. 498-500 ◽  
Author(s):  
J.N. Woo ◽  
H.B. Lee ◽  
M.S. Kim ◽  
K.C. Lee ◽  
N.S. Kim

A two and a half year old Chihuahua intact male dog weighing 1.7 kg was referred to our Animal Medical Centre presenting with ataxia, seizure, nystagmus, tremor, and tilt. Additionally, it was not able to stand and sit. Physical examination, palpation, neurology examination, complete blood count (CBC), serum chemistry test, radiographs (X-ray), ultrasonography (US), and magnetic resonance imaging (MRI) were all performed. Open fontanelle, domeshaped calvarium, a thinning of bone structure, and asymmetrically enlarged lateral ventricles on the right were found on diagnostic imaging. Accordingly, the dog was diagnosed with hydrocephalus. A VP shunt placement was performed as surgical treatment. The ventricular catheter was placed into the right lateral ventricle through the fontanelle insertion site and the distal catheter was placed in the abdomen using the percutaneous technique. After surgery, anorexia, seizure, tremor, and nystagmus disappeared. Also, the dog could stand and walk without support; however, gait was slow and not completely normal and the tilt remained.


2021 ◽  
pp. 088307382199128
Author(s):  
Hafize Emine Sönmez ◽  
Ferhat Demir ◽  
Semanur Özdel ◽  
Şerife Gül Karadağ ◽  
Esra Bağlan ◽  
...  

Objective: Takayasu arteritis is a rare granulomatous chronic vasculitis that affects the aorta and its main branches. Neurologic manifestations can accompany the disease; however, there is no study on neuroimaging in children with Takayasu arteritis. Therefore, we aimed to evaluate cranial magnetic resonance imaging (MRI) in pediatric Takayasu arteritis patients. Materials and Methods: Demographic, clinical, and laboratory data were obtained retrospectively. Results: The study included 15 pediatric Takayasu arteritis patients. All patients presented with constitutional symptoms. Additionally, 6 patients suffered from headache, 2 had syncope, 1 had loss of consciousness, and 1 had convulsion. All patients underwent cranial and diffusion MRI a median 12 months after diagnosis. Cranial MRI findings were normal in 12 patients, whereas 3 patients had abnormal findings, as follows: stenosis in the M1 and M2 segments of the left middle cerebral artery (n = 1); diffuse thinning of the right internal carotid, middle cerebral, and right vertebral and basilar artery (n = 1); as a sequela, areas of focal gliosis in both the lateral ventricular and posterior periventricular regions (n = 1). Among these 3 patients, 1 had no neurologic complaints. Conclusion: Abnormal MRI findings can be observed in pediatric Takayasu arteritis patients, even those that are asymptomatic; therefore, clinicians should carefully evaluate neurologic involvement in all pediatric Takayasu arteritis patients.


2021 ◽  
Vol 9 (5) ◽  
pp. 950
Author(s):  
Chiara Sodini ◽  
Elena Mariotti Zani ◽  
Francesco Pecora ◽  
Cristiano Conte ◽  
Viviana Dora Patianna ◽  
...  

In most cases, infection due to Bartonella henselae causes a mild disease presenting with a regional lymphadenopathy frequently associated with a low-grade fever, headache, poor appetite and exhaustion that spontaneously resolves itself in a few weeks. As the infection is generally transmitted by cats through scratching or biting, the disease is named cat scratch disease (CSD). However, in 5–20% of cases, mainly in immunocompromised patients, systemic involvement can occur and CSD may result in major illness. This report describes a case of systemic CSD diagnosed in an immunocompetent 4-year-old child that can be used as an example of the problems that pediatricians must solve to reach a diagnosis of atypical CSD. Despite the child’s lack of history suggesting any contact with cats and the absence of regional lymphadenopathy, the presence of a high fever, deterioration of their general condition, increased inflammatory biomarkers, hepatosplenic lesions (i.e., multiple abscesses), pericardial effusion with mild mitral valve regurgitation and a mild dilatation of the proximal and medial portion of the right coronary artery, seroconversion for B. henselae (IgG 1:256) supported the diagnosis of atypical CSD. Administration of oral azithromycin was initiated (10 mg/kg/die for 3 days) with a progressive normalization of clinical, laboratory and US hepatosplenic and cardiac findings. This case shows that the diagnosis of atypical CSD is challenging. The nonspecific, composite and variable clinical features of this disease require a careful evaluation in order to achieve a precise diagnosis and to avoid both a delayed diagnosis and therapy with a risk of negative evolution.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maria-Argyro Karageorgou ◽  
Dimosthenis Stamopoulos

AbstractRadiolabeled magnetic nanoparticles are promising candidates as dual-modality-contrast-agents (DMCA) for diagnostic applications. The immunocompatibility of a new DMCA is a prerequisite for subsequent in vivo applications. Here, a new DMCA, namely Fe3O4 nanoparticles radiolabeled with 68Ga, is subjected to immunocompatibility tests both in vitro and in vivo. The in vitro immunocompatibility of the DMCA relied on incubation with donated human WBCs and PLTs (five healthy individuals). Optical microscopy (OM) and atomic force microscopy (AFM) were employed for the investigation of the morphological characteristics of WBCs and PLTs. A standard hematology analyzer (HA) provided information on complete blood count. The in vivo immunocompatibility of the DMCA was assessed through its biodistribution among the basic organs of the mononuclear phagocyte system in normal and immunodeficient mice (nine in each group). In addition, Magnetic Resonance Imaging (MRI) data were acquired in normal mice (three). The combined OM, AFM and HA in vitro data showed that although the DMCA promoted noticeable activation of WBCs and PLTs, neither degradation nor clustering were observed. The in vivo data showed no difference of the DMCA biodistribution between the normal and immunodeficient mice, while the MRI data prove the efficacy of the particular DMCA when compared to the non-radiolabeled, parent CA. The combined in vitro and in vivo data prove that the particular DMCA is a promising candidate for future in vivo applications.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Natalia Cernovschi - Feasey ◽  
Julekha Wajed

Abstract Background/Aims  Dactylitis is commonly associated with psoriatic arthritis, and regularly presents at Rheumatology clinics. We discuss a case where progressive systemic symptoms lead to the consideration of alternate diagnoses. Methods  A 46-year-old Nepalese woman presented to the Rheumatology department with a 3 month history of diffuse swelling of the right middle finger proximal interphalangeal joint, with the appearance of dactylitis. There was pain on movement, but no other joint involvement. Simultaneously she noticed blurred and decreased vision, which on review by the ophthalmologists, was diagnosed with bilateral uveitis. There was no history of psoriasis, inflammatory bowel disease, or other past medical history of note. There was no travel history in the past 12 months. A diagnosis of a presumed inflammatory arthritis was made. Results  Blood tests showed elevated c-reactive protein 55 (normal <4 mg/l), erythrocyte sedimentation rate 138 (normal 0-22 mm/hr) and an iron deficiency anaemia. Rheumatoid factor and Anti-CCP antibody were negative. Hand radiographs were reported as normal. MRI of the third digit confirmed an enhancing soft tissue collection at the proximal phalanx of the right middle finger. She was referred for a biopsy of this lesion. Interestingly over the subsequent few months, she developed progressive breathlessness. Chest radiograph showed a left pleural effusion. Further tests showed negative serum ACE, Lyme and Toxoplasma screen. Quantiferon test was negative. Pleural aspirate showed a transudate with negative Acid-fast bacillus (AFB) test and culture. CT chest and abdomen showed a persistent pleural effusion, inflammatory changes in the small bowel and thickening of the peritoneum and omentum. In view of the systemic involvement, a peritoneal tissue biopsy was performed. This confirmed chronic granulomatous inflammation with positive AFB stain for mycobacterium tuberculosis. Our patient was started on quadruple anti- TB antibiotics for 6 months. Her systemic symptoms and dactylitis have improved, although there is on-going treatment for her ocular involvement. Conclusion  Approximately 10% of all cases of extrapulmonary TB have osteoarticular involvement. Dactylitis is a variant of tuberculous osteomyelitis affecting the long bones of the hands and feet. It occurs mainly in young children; however adults may be affected also. The first manifestation is usually painless swelling of the diaphysis of the affected bone followed by trophic changes in the skin. The radiographic changes are known as spina ventosa, because of the ballooned out appearance of the bone, although this was not seen in our case. Fibrous dysplasia, congenital syphilis, sarcoidosis and sickle cell anaemia may induce similar radiographic changes in the metaphysis of long bones of hands and feet, but do not cause soft tissue swelling or periosteal reaction. This case highlights the importance of testing for TB, especially in atypical cases of dactylitis, with other systemic features. Disclosure  N. Cernovschi - Feasey: None. J. Wajed: None.


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