[show abstract][hide abstract] ABSTRACT: Xanthogranulomatous inflammation is a well-described inflammatory process, which may involve any organ but is most frequently encountered in the gall bladder and the kidney. There are rare reports of xanthogranulomatous appendicitis (XA) in the adult population, but only one brief mention of such a diagnosis in a child. In this report, we describe the case of an 11-year-old boy who presented with clinical signs and symptoms of acute appendicitis necessitating appendectomy. Upon microscopic examination, the appendix showed the typical features of XA. To the best of our knowledge, this is the first well-described case XA in a noninterval appendix in a child. We also reviewed the limited medical literature on the subject.
[show abstract][hide abstract] ABSTRACT: Platelet hyperreactivity is an important but under-recognized cause of idiopathic arterial thrombosis. We describe a case of arterial thrombosis in a previously healthy 12-year-old girl after minor trauma to the knee, resulting in lower extremity amputation. Family history was positive for arterial and venous thrombosis, but an extensive work-up for the usual inherited thrombophilia risk factors was negative. The patient was eventually diagnosed with platelet hyperreactivity and remains on life-long antiplatelet therapy.Consideration of platelet hyperreactivity in the evaluation of unusual arterial thrombotic events allows for targeted therapy, potential avoidance of future events, and timely screening of family members.
Laboratory hematology: official publication of the International Society for Laboratory Hematology 12/2012; 18(4):22-6.
[show abstract][hide abstract] ABSTRACT: Burkitt's leukemia (BL) constitutes a small but important fraction of acute leukemias in children. It is an aggressive type of leukemia that is responsive to high-intensity, short-duration chemotherapy with complete remission possible in 75% to 90% of cases. The recognition and proper designation of BL is important because treatment differs from that of precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Burkitt's leukemia is separated by its typical morphologic features (blasts with typical French-American-British [FAB] L-3 morphology compared to FAB L-1/L-2 morphology in pre-B ALL) and a classic immunophenotype (blast positivity for CD45 [bright], CD20 [bright], CD10, CD19, surface immunoglobulin [SIg], Ig light chain restriction, and negative terminal deoxynucleotidyl transferase [TdT]) compared to pre-B ALL blasts (which are positive for CD45 [dim], CD10, CD19, and TdT and negative for CD20 and SIg). The diagnosis of Burkitt's leukemia is confirmed by the characteristic cytogenetic findings.The combination of Burkitt's morphology with precursor B-cell immunophenotype may present a diagnostic pitfall, resulting in delay of proper management.We describe such an atypical case in a 12-year-old girl and emphasize that correct classification and treatment starts with proper morphologic/immunophenotypic correlation, and the awareness of the overlapping features in some cases.
Laboratory hematology: official publication of the International Society for Laboratory Hematology 12/2011; 17(4):27-31.
[show abstract][hide abstract] ABSTRACT: A 10-year-old female with Williams Syndrome (WS) presented with a two-month history of fatigue, weight loss, and bilateral ovarian masses. Histologic, immunophenotypic, and cytogenetic studies confirmed the diagnosis of Burkitt lymphoma (BL). While there is no established association between the two disorders, this is the third case in the literature of Burkitt lymphoma in a patient with Williams Syndrome.
[show abstract][hide abstract] ABSTRACT: Rosai–Dorfman disease (RDD) otherwise known as sinus histiocytosis with massive lymphadenopathy (SHML) is a rare disease of unknown etiology that commonly involves cervical lymph nodes. Tonsillar involvement is extremely rare. We present a case of tonsillar involvement in a 4-year-old boy who presented with a 4-month history of cervical lymphadenopathy and enlarged tonsils causing hoarseness of voice. We also review the literature and discuss the pathologic and clinical characteristics of this disease.
International Journal of Pediatric Otorhinolaryngology Extra 01/2011; 6(1):17-19.
[show abstract][hide abstract] ABSTRACT: Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery disease, and migraine headaches. The authors analyzed the potential link between MTHFR 677C>T homozygosity and childhood stroke. A true association might facilitate screening, recurrence risk stratification, and treatment in patients with cerebrovascular disease. They performed a retrospective chart review of children tested for the MTHFR 677C>/T mutation; 533 patients underwent MTHFR testing, and 8% were homozygous for the MTHFR 677C>T mutation. There was no difference in the cohort compared with the prevalence in the general population. This suggests that the MTHFR 677 C>T polymorphism played a minimal role or no role in stroke risk. However, the data suggest that the MTHFR TT genotype may influence migraine susceptibility in children because there was a higher proportion of migraine patients (28.6%) with the MTHFR TT homozygous genotype.
Journal of child neurology 01/2011; 26(3):318-21. · 1.59 Impact Factor
[show abstract][hide abstract] ABSTRACT: Despite the impressive advances in pathology and microbiology of recent years, the morphologic recognition of an organism remains a major component in rendering a specific diagnosis of an infectious process, or at minimum, a trigger in the process of identifying an infectious agent. Artifacts and mimickers may pose difficulty to the unwary, and may cause a potential "wild goose chase" that can result in wasted valuable time and resources. Fibrin, collagen exogenous fibers, and bacteria may mimic fungal hyphae. Morphologically altered or treated bacteria and Russel bodies may be mistaken for fungal yeasts, etc. Examples of artifacts and mimickers that may simulate infectious organisms are presented in this article. In addition, a review of literature on the subject, demonstrating a surprising dearth of published articles, despite the frequent encounters of this issue in the daily practice.
Advances in anatomic pathology 07/2010; 17(4):277-81. · 3.22 Impact Factor
[show abstract][hide abstract] ABSTRACT: The presentation of Hodgkin Lymphoma in a thymic cyst is rare. We describe a case in a 9 year-old boy, with a long follow-up course, complicated by two secondary neoplasms and a post bone marrow transplant lymphoproliferative disorder. We also review the literature on such presentations and second malignant neoplasms in childhood.
[show abstract][hide abstract] ABSTRACT: Eosinophilic esophagitis is increasingly recognized as a cause of dysphagia or food impaction in pediatric patients. It has a high male predominance and is often associated with a history of allergy or asthma.
To correlate fluoroscopic findings in eosinophilic esophagitis with the endoscopic and histologic findings.
We retrospectively reviewed the upper gastrointestinal (UGI) findings of eosinophilic esophagitis and correlated them with the clinical, endoscopic and histologic findings in a series of 17 children (12 boys, 5 girls).
UGI findings were normal in 12 children, including 4 who had a normal UGI exam after endoscopic disimpaction for an obstructing food bolus. Five children had strictures identified on UGI: one was demonstrated with endoscopy. This suggests that the impactions and strictures were due to an esophageal dysmotility rather than a fixed anatomic abnormality.
Because the UGI findings are frequently normal in eosinophilic esophagitis, radiologists need to have a high index of suspicion for this disease. In children with a strong clinical history, especially impaction in the absence of an esophageal stricture, endoscopy and biopsy are indicated for further evaluation.
[show abstract][hide abstract] ABSTRACT: The diagnosis and management of alpha-thalassemia may be complicated by the variability of the phenotype, which is due to the interaction of coinherited alpha-thalassemia and the variable severity of beta-thalassemia mutations. A well-documented case of complex beta- and alpha-thalassemia coinheritance is described. Laboratory and clinical data for the patient and her family are reviewed. The patient is an asymptomatic girl, one of identical twins. She presented at 1 month of age for follow-up of an abnormal newborn-screening result (hemoglobin F only), which initially suggested homozygosity for beta-thalassemia. Extensive studies on the patient and family revealed that she had coinherited alpha-thalassemia traits and homozygous beta-thalassemia. This case demonstrates the interaction of coinherited alpha- and beta-thalassemia with the resultant amelioration of the clinical phenotype. It also highlights the importance of family studies and close follow-up in diagnosing complex hemoglobinopathies.
Laboratory hematology: official publication of the International Society for Laboratory Hematology 01/2009; 15(3):30-3.
[show abstract][hide abstract] ABSTRACT: Juvenile myelomonocytic leukemia (JMML) is a rare, aggressive, clonal hematopoietic disorder of childhood with features of both myelodysplasia (thrombocytopenia, anemia) and myeloproliferation (leukocytosis, monocytosis). In most cases there is marrow hypercellularity, splenomegaly, and extramedullary involvement. In 1997 an international consensus on terminology was reached and guidelines/criteria for diagnosis were proposed. A recent World Health Organization classification described the current diagnostic criteria of JMML. Although the diagnosis of JMML has been facilitated, it can be challenging, especially in the early stages or when it 1st presents as an extramedullary tumor. We report a series of 7 cases diagnosed over a period of 10 years (from January 1, 1996, to December 31, 2005). Two cases had interesting associated findings that would potentially lead to delay in diagnosis or misdiagnosis. Two other cases had extramedullary involvement with symptoms referable to the organs of involvement at presentation. Clinical and pathologic findings are summarized with a review of relevant literature.
Pediatric and Developmental Pathology 09/2008; 12(2):136-42. · 0.86 Impact Factor
[show abstract][hide abstract] ABSTRACT: Leukemias are neoplasms that arise from the hematopoetic cells of bone marrow and usually spread first to peripheral blood. Involvement of extramedullary tissue during the course of a leukemia is common and usually does not represent a major diagnostic challenge when the history is available and specimen triage is optimal. In the context of a myeloid origin, extramedullary leukemias are referred to as granulocytic sarcomas, extramedullary myeloid tumors, extramedullary leukemias, or myeloid sarcomas. In the lymphoid category, leukemia involvement of tissue is conventionally distinguished from lymphoma by establishing the presence of 20% or more blasts in the bone marrow. A leukemia with an initial presentation outside the bone marrow mimicking a solid tumor is a rare but well-documented clinical encounter. Diagnostic difficulties may arise, especially when a specimen is not triaged properly due to the clinical presumption of a nonhematopoietic tumor. Systematic handling and proper triaging of biopsies are the keys to reducing diagnostic error and facilitating a timely diagnosis in this category. We report 4 case examples in the pediatric population, presenting in different anatomic sites. The value of fresh specimens and performing touch imprints is discussed and emphasized.
Pediatric and Developmental Pathology 02/2008; 11(5):370-6. · 0.86 Impact Factor
[show abstract][hide abstract] ABSTRACT: We describe a case of autoimmune lymphoproliferative syndrome (ALPS), which is very unusual with regard to a clinical onset soon after birth, and a clinical picture dominated by splenomegaly, jaundice, and consumptive peripheral blood cytopenias, with minimal lymphadenopathy. Our documented close follow up demonstrated initial involvement of the spleen, followed by involvement of the bone marrow and the peripheral blood. The patient underwent bone marrow transplant and is alive and well 20 months after diagnosis.
Pediatric and Developmental Pathology 04/2007; 10(4):315-9. · 0.86 Impact Factor
[show abstract][hide abstract] ABSTRACT: A 5-year-old girl with a remote history of idiopathic thrombocytopenic purpura presented with a history of partial nasolacrimal duct obstruction unresolved with standard treatments of probing, irrigation, and lacrimal system intubation. Surgical exploration revealed canaliculitis with dacryolith formation within the inferior canalicular system. After punctoplasty and removal of the dacryoliths, the patient had full resolution of symptoms. Although the diagnosis is uncommon in this age group, it should be included in the differential diagnosis of chronic or recurrent pediatric nasolacrimal obstruction.
Ophthalmic Plastic and Reconstructive Surgery 06/2004; 20(3):243-6. · 0.67 Impact Factor