Gelatinous transformation of bone marrow: rare or underdiagnosed?

Gelatinous transformation of the bone marrow (GTBM) is a rare hematologic entity, which was first described by Paul Michael in 1930. GTBM is mostly associated with caloric intake/anorexia nervosa, although it also has been described accompanying other pathologic conditions, such as malignancy, systemic lupus erythematosus and HIV infections. Even though the diagnostic features of the hematopoietic tissue, such as hypoplasia, adipose cell atrophy, and deposition of a gelatinous substance in the bone marrow (which stains with Alcian blue at pH 2.5) are quite specific, the underlying pathogenic mechanisms remain poorly understood. Considering the evidence of reversibility­notably in cases of malnutrition and anorexia­this entity should be kept high on cards as a possible differential diagnosis of patients presenting with cytopenias and associated weight loss or starvation, especially in developing countries with nutritionally deprived populations. On an extensive review of the literature aimed at comprehensively addressing the evolution of the GTBM from the past century until now, we conclude that the lack of clinical suspicion and awareness regarding this pathologic entity has led to misdiagnosis and delayed diagnosis.

Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis

No abstract available.

Revesz syndrome.

A 5-year-old girl was admitted with pallor, hypopigmented sparse hair, tongue ulcers, atrophic nail changes, hypoplastic anemia and bilateral exudative retinopathy. A diagnosis of Revesz syndrome was made. She had the additional features of retinal detachment and retinitis pigmentosa, which are hitherto unreported in this syndrome.

Insuficiencia medular / Bone marrow insufficiency

La insuficiencia medular es un síndrome hematológico; de pronóstico siempre reservado; que reconoce dos mecanismos etiopatogénicos: la aplasia medular y la mieloptisis. La primera es de naturaleza benigna y recuperable (50 por ciento) y la segunda maligna. Ambas se manifiestan clínicamente por una pancitopenia de la sangre periférica, la que se traduce por la asociación de un síndrome anémico normocítico y normocrómico arregenerativo, uno infeccioso febril y uno purpúrico. El diagnóstico clínico de insuficiencia medular es fácil, no así su tratamiento, especialmente en las mieloptisis.

Bone Marrow Fibrin-Ring Granuloma: Review of 24 Cases / 대한진단검사의학회지

BACKGROUND: Fibrin-ring granuloma (FRG), which can be found in bone marrow or the liver, is a subtype of epithelioid granuloma characterized by a central fat vacuole and annular peripheral fibrinoid materials. FRG has been proven to be associated with many etiologies such as several infectious organisms (Coxiella burnett; Epstein-Barr Virus, EBV; cytomegalovirus, CMV; and hepatitis A virus), allopurinol induced hepatitis, Hodgkin's lymphoma, and peripheral T-cell lymphoma. METHODS: We retrospectively reviewed 24 patients diagnosed with FRG by bone marrow biopsy at a single institute between 1995 and 2004. We reviewed clinical symptoms and laboratory findings of the patients, classified them by etiology, and compared prognosis of each group. RESULTS: The most common cause of FRG was acute or chronic EBV infection. Chronic or acute EBV infection was associated with 41.4% of patients (10/24). Of the remaining patients, 33.3% (8/24) were leukemia or lymphoma patients after chemotherapy, 4.2% (1/24) was a patient with hepatic failure, and 20.8% (5/24) were diagnosed as fever of unknown origin. The most common symptom and clinical finding were fever and cytopenia. EBV-associated group comprised chronic active EBV infection, EBV-associated hemophagocytic histiocytosis, acute EBV infection, EBV-associated lymphoproliferative disease, and Langerhans' cell histiocytosis. The EBV-associated group showed a lower survival probability compared with the non-EBV group (P<0.05). CONCLUSIONS: Patients with bone marrow fibrin ring granuloma accompanied by fever require an active workup to find out the cause of infectious agents including EBV infection particularly due to their poor prognosis.

Síndrome de edema de la médula ósea de cadera / Bone marrow edema syndrome of the hip

Background: Bone marrow edema syndrome (BMES) is a rare clinical condition. Its etiology is unknown and it can be seen in different locations. In the case of the hip, avascular necrosis is the main differential diagnosis. Aim: To present our experience of BMES of the hip and a review of the literature. Patients and methods: Retrospective analysis of clinical records of patients with hip pain that met clinical, radiological, and magnetic resonance imaging criteria for BMES. Clinical outcome and clinical and radiological follow up are presented. Results: Two men and two women (one of them pregnant) aged 42, 48, 36 and 26 years old, fulfilled criteria. Treatment included limited weight bearing, non steroidal antiinflammatory drugs, intranasal calcitonin and physical therapy. Complete remission of symptoms was observed within five to seven months. At an average follow up of 36 months, all patients presented complete function of the hip, returning to their previous activity levels, with no new episodes of BMES. Conclusions: It is important to be aware of this condition as part of the differential diagnosis of hip pain to avoid aggressive and unnecessary diagnostic and therapeutic procedures (Rev Méd Chile 2004; 132: 947-54).

Severe refractory sarcoidosis in a 64-year-old man with persistent leucopenia

We present a case of bone marrow granulomas in a 64-year-old West Indian man who presented with severe leucopenia, anaemia, thrombocytopenia, hepatosplenomegaly, hypercalcaemia, hypercalciuria, elevated angiotensin converting enzyme level and reticulo-nodular shadows on chest X-ray. Bone marrow biopsy revealed numerous non-caseating epithelioid granulomas. A diagnosis of sarcoidosis was made and he was treated with prednisolone 60 mg daily for four weeks and the dose was subsequently reduced to 30 mg daily. Eight months follow-up revealed persistent pancytopenia. Bone marrow granulomas are rare and, when they occur, sarcoidosis is an uncommon aetiology. This case illustrates that severe leucopenia may occur in sarcoidosis and may present therapeutic difficulties

Bone marrow trephine biopsy as an adjunct to bone marrow aspiration.

OBJECTIVE: To determine the relative efficacy of bone marrow aspiration as compared to that of trephine biopsy. METHODS: Bone marrow aspiration and bilateral trephine biopsies were performed in 420 consecutive cases. The diagnosis and findings made on bone marrow aspiration were compared with that made on trephine biopsy in each case. RESULTS: Aspiration alone was sufficient in making a diagnosis in 372 (88.6%) cases as it correlated well with the diagnosis made on trephine sections. In the remaining 48 (11.4%) cases trephine biopsy was necessary for making a diagnosis due to incomplete information provided by aspiration or its inability to give a correct diagnosis. These cases were mostly hypoplastic/aplastic marrow, myelofibrosis and marrow involvement by metastatic tumour and lymphomatous infiltration. Often a bilateral marrow biopsy picked up the diagnostic lesion. CONCLUSION: The decision to perform a marrow aspiration alone or in combination with marrow biopsy depends on the diagnosis being considered. In nutritional anaemias, most hematologic malignancies and immune thrombocytopenias, marrow aspiration alone is sufficient, but for detection of disorders with focal marrow involvement bilateral marrow biopsies are a must.

Mielodisplasia na infância: o grupo cooperativo brasileiro e seu impacto educacional, na melhoria do diagnóstico e do tratamento / Childhood myelodysplasia: the brazilian cooperative group and its educational impact for correct diagnosis and the treatment

O número de casos de crianças com mielodisplasias tem aumentado consideravelmente nos últimos anos e dai a necessidade e a importância de se criar um grupo cooperativo reunindo profissionais que tenham interesse no estudo dos diferentes aspectos da doença. O Grupo Cooperativo Brasileiro de Síndrome Mielodisplásica em Pediatria (GCB-SMD-PED) foi formado em Janeiro de 1997 com o objetivo de estudar crianças (menores de 18 anos) com diagnóstico confirmado ou suspeita de mielodisplasia de todo o país. É um grupo composto por hematologistas, pediatra-oncologistas, pediatra-hematologistas e estudiosos em biologia molecular, entre outros. Os objetivos do GCB-SMD-PED são: i) servir como centro de referência educacional em mielodisplasia pediátrica, ii) conhecer os aspectos epidemiológicos da doença em nosso meio e iii) oferecer apoio e orientação para o diagnóstico e para o tratamento, inclusive realizando exames mais sofisticados tais como citogenética e biologia molecular. Os primeiros resultados do GCB-SMD-PED foram analisados a partir de 36 casos pediátricos e comparados com 189 pacientes adultos. Tais dados foram apresentados no 5º Símposio Internacional de Mielodisplasia em Praga em 1999. Em 2001 no 6º Simposio Internacional de Mielodisplasia realizado em Estocolmo, 114 pacientes pediátricos matriculados no GCB-SMD-PED no período de Janeiro de 1997 a Dezembro de 2000. Destes, 64 crianças foram confirmadas como portadoras de mielodisplasia, 38 casos foram confundidos com mielodisplasia e em 12 casos o material foi considerado inadequado para confirmação do diagnóstico. Estes 114 casos eram oriundos de 21 centros brasileiros de 7 estados: Acre, Natal, Bahia, Goiás, Minas Gerais, São Paulo e Paraná. Trinta e um pacientes foram encaminhados através de professores universitários, 73 através de centros de oncologia pediátrica e 10 crianças encaminhadas de clínicas particulares. A maioria dos casos vieram para orientação diagnóstica, terapêutica ou para estudo complementar (citogenético ou biologia molecular).

Bone marrow necrosis in paediatric patients.

Necrosis of bone marrow is a very rare condition with a prevalence ranging from 0.15 to 7 percent. It is mostly not compatible with life. We diagnosed four cases of necrotic marrow out of 830 bone marrow aspirations done in last five years of time. All were paediatric patients having peripheral pancytopenia. Three out of four patients expired within one month of diagnosis.

Micrometástasis en médula ósea en cáncer colorrectal / Micrometastasis in bone marrow in colo-rectal carcinoma

Los métodos de diagnósticos convencionales son insuficientes para comprobar las micrometástasis o la diseminación de células tumorales. Con la ayuda de nuevos métodos inmunocitoquímicos, se perfilan nuevas posibilidades para el diagnóstico de las micrometástasis, puesto que ellos pueden diferenciar células histogenéticamente distintas. El anticuerpo monoclonal Cytokeratin 2 (MAK CK2), que marca el componente 18 de citokeratina del carcinoma colorrectal (CCR), es el más adecuado para demostrar las micrometástasis en la médula ósea. Nosotros hemos podido identificar células CK2 - positivas, con los carácteres de micrometástasis, en las médulas óseas de 22 enfermos, de un total de 82 pacientes con CCR. Se analiza el hallazgo de las micrometástasis, mediante dicho método, en función de los factores dados por el paciente y el tumor. Esto es, edad y sexo, localización y tamaño del tumor primario, presencia de adenopatías, de metástasis a distancia y según los grados histopatológicos de malignidad

Bone Marrow Examination: Adventures in Diagnostic Hematology

No abstract available.

Mielodisplasia: revisäo de 23 casos / Myelodysplasia: report of 23 cases

Foram analisados os dados clínicos hemogramas, mielograma e biópsia de medula óssea de 23 pacientes com diagnóstico de mielodisplasia. A queixa principal decorreu da anemia (21 casos) que usualmente apresentava-se associada ou näo àpancitopenia; macrocitose; hipogranulaçäo dos neutrófilos e pseudo-Pelger. O mielograma demonstrou diseritropoiese em todos os casos, hiperplasia eritrocítica e atipias megacariocitárias freqüentemente. A biópsia de medula óssea foi importante para o diagnóstico dessa síndrome, tendo-se observado celularidade aumentada em 12 casos, diminuida em 8 e normal em dois casos; focos de blastos (8 casos), megacariocitos atípicos (14 casos) e fibras de reticulina (aumentadas em 11 casos)