RESUMEN
We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman-Diamond syndrome (SDS) with an atypical presentation. Unexpected was the age of disease expression, normally around the pediatric age, with a predominantly median survival age of 36 yr. To our knowledge, she was the first adult patient with a molecular diagnosis of Shwachman-Diamond in Uruguay. The patient was referred to our service when she was 43-yr-old with a history of bone marrow failure with anemia and thrombocytopenia. All secondary causes of pancytopenia were excluded. Bone marrow aspirate and biopsy specimens were hypocellular for the patient's age. Numerous dysplastic features were observed in the three lineages. She had a normal karyotype and normal chromosomal fragility. A diagnosis of low-risk hypoplastic MDS was made. Dermatological examination revealed reticulate skin pigmentation with hypopigmented macules involving the face, neck, and extremities; nail dystrophy; premature graying; and thin hair. Extrahematological manifestations were present (e.g., learning difficulties, short stature). Last, she was diagnosed with cryptogenic liver cirrhosis CHILD C. This rules out all other possible causes of chronic liver disease. This clinical presentation initially oriented the diagnosis toward telomeropathy, so we did a telomeropathy NGS panel that came up negative. Finally, we did an exome sequencing that confirmed the diagnosis of SDS. Using whole-exome sequencing, we were able to find two compound heterozygous mutations in the SBDS gene that were responsible for the phenotype of a patient that was undiagnosed for 10 years. An earlier genetic diagnosis could have influenced our patient's outcome.
Asunto(s)
Enfermedades de la Médula Ósea , Insuficiencia Pancreática Exocrina , Femenino , Humanos , Síndrome de Shwachman-Diamond/genética , Insuficiencia Pancreática Exocrina/diagnóstico , Enfermedades de la Médula Ósea/diagnóstico , Enfermedades de la Médula Ósea/genética , Mutación , Proteínas/genéticaRESUMEN
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.
Asunto(s)
Humanos , Enfermedades de la Médula Ósea/diagnóstico , Diagnóstico Tardío/prevención & control , Enfermedades Raras/diagnósticoRESUMEN
The addition of the new protease inhibitors (PIs) to peg-interferon (IFN) and ribavirin (RBV), approved for chronic hepatitis C, has clearly improved sustained virological response (SVR) rates although several adverse events have been reported with this regimens, including mild hematological toxicity. Moreover, severe pancytopenia and aplastic anemia during triple therapy with telaprevir has recently been described in seven patients. We report here two cases of severe agranulocytosis/aplastic anemia using boceprevir or simeprevir in interferon-based combination and 2 additional cases of severe myelosupression in IFN-free therapy with sofosbuvir and simeprevir plus RBV. Our observations suggest that PIs could have a sort of class-effect in developing severe hematologic toxicity or, at least, an additive interaction with other potentially myelotoxic agents such as IFN or RBV that are used in the classical regimens against HCV. Unfortunately, the mechanisms behind this phenomenon are currently unknown. In conclusion, given the lifethreatening character of these complications, close monitoring is mandatory in patients under PIs based therapy to promptly detect serious hematological toxicities and to carefully evaluate treatment discontinuation. Prospective studies assessing the usefulness of RBV in the era of new IFN-free combinations are needed.
Asunto(s)
Anemia Aplásica/inducido químicamente , Antivirales/efectos adversos , Enfermedades de la Médula Ósea/inducido químicamente , Hepatitis C/tratamiento farmacológico , Prolina/análogos & derivados , Inhibidores de Proteasas/efectos adversos , Simeprevir/efectos adversos , Adulto , Anemia Aplásica/diagnóstico , Anemia Aplásica/terapia , Enfermedades de la Médula Ósea/diagnóstico , Enfermedades de la Médula Ósea/terapia , Examen de la Médula Ósea , Quimioterapia Combinada , Resultado Fatal , Hepatitis C/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Prolina/efectos adversos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Resultado del TratamientoAsunto(s)
Enfermedades de la Médula Ósea/historia , Insuficiencia Pancreática Exocrina/historia , Lipomatosis/historia , Enfermedades de la Médula Ósea/diagnóstico , Enfermedades de la Médula Ósea/genética , Insuficiencia Pancreática Exocrina/diagnóstico , Insuficiencia Pancreática Exocrina/genética , Historia del Siglo XX , Humanos , Lipomatosis/diagnóstico , Lipomatosis/genética , Síndrome de Shwachman-DiamondRESUMEN
An unusual presentation of a focal osteoporotic bone marrow defect (FOBMD) of the mandible mimicking a cystic lesion is documented. A definitive diagnosis could be established only on the basis of the histopathologic evaluation. A 66-year-old Brazilian woman was referred by her dentist for well-defined radiolucency of the mandibular molar region suggesting a cystic lesion of odontogenic origin. The computed tomography scan confirmed that the lesion did not affect the corticals. The biopsy confirmed the diagnosis of FOBMD. The diagnostic difficulty in the current case is obvious, because FOBMD, usually exhibiting an ill-defined radiolucency, is seldom suspected preoperatively when a differential diagnosis is considered for focal well-defined radiolucent areas in the jaws.
Asunto(s)
Enfermedades de la Médula Ósea/diagnóstico , Quistes/diagnóstico , Enfermedades Mandibulares/diagnóstico , Osteoporosis/diagnóstico , Anciano , Diagnóstico Diferencial , Femenino , HumanosAsunto(s)
Enfermedades de la Médula Ósea/inducido químicamente , Enfermedades de la Médula Ósea/diagnóstico , Inhibidores de Agregación Plaquetaria/efectos adversos , Ticlopidina/análogos & derivados , Médula Ósea/efectos de los fármacos , Médula Ósea/patología , Clopidogrel , Femenino , Humanos , Persona de Mediana Edad , Ticlopidina/efectos adversosRESUMEN
OBJECTIVES: To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis. STUDY DESIGN: We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic Shwachman-Bodian-Diamond syndrome mutations confirming the diagnosis of SDS were available for 37 patients. RESULTS: Neutropenia was the most common hematologic abnormality at presentation (30/37, 81%); however, only 51% (19/37) of patients presented with the classic combination of neutropenia and steatorrhea. Absence of pancreatic lipomatosis on ultrasound or computed tomography scan, normal fecal elastase levels, and normal skeletal survey do not rule out the diagnosis of SDS. SDS was diagnosed in 2 asymptomatic siblings of SDS probands. Twenty-four of 37 patients (65%) had congenital anomalies. CONCLUSION: Our cohort reveals a broad range of clinical presentation for SDS. Clues to the underlying diagnosis of SDS included cytopenias with a hypocellular marrow, congenital anomalies, family history, and myelodysplasia with clonal abnormalities frequently found in SDS. Reliance on classic clinical criteria for SDS would miss or delay diagnosis of a significant subset of patients with SDS.
Asunto(s)
Enfermedades de la Médula Ósea/diagnóstico , Insuficiencia Pancreática Exocrina/diagnóstico , Lipomatosis/diagnóstico , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , América del Norte , Sistema de Registros , Estudios Retrospectivos , Síndrome de Shwachman-DiamondAsunto(s)
Enfermedades de la Médula Ósea , Edema , Fémur , Osteoporosis , Síndrome , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades de la Médula Ósea/diagnóstico , Enfermedades de la Médula Ósea/etiología , Enfermedades de la Médula Ósea/terapia , Edema/diagnóstico , Edema/etiología , Edema/terapia , Femenino , Fémur/diagnóstico por imagen , Fémur/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Osteoporosis/diagnóstico , Osteoporosis/etiología , Osteoporosis/terapia , Valor Predictivo de las Pruebas , Radiografía , Factores de Riesgo , Resultado del TratamientoRESUMEN
OBJECTIVE: To study the incidence and outcome of Down syndrome-associated neonatal cholestasis in a population-based cohort. STUDY DESIGN: This retrospective study included all neonates diagnosed with Down syndrome born between January 2005 and September 2011 in the County of Stockholm, Sweden. Clinical and biochemical data related to cholestasis, early gastrointestinal (GI) involvement, congenital heart defects (CHD), and bone marrow disease were obtained from the computer-based hospital chart system. RESULTS: A total of 206 newborns with Down syndrome were identified, for an incidence of 1 in 880 newborns. Prevalences of other diseases in these newborns included 47% for CHD, 11.2% for GI involvement, 3.9% for neonatal cholestasis, and 3.4% for bone marrow disease. Neonatal cholestasis was more common in the newborns with GI involvement (3 of 23 vs 5 of 183 of those without GI involvement; P = .047), CHD (8 of 96 vs 0 of 110 of those without CHD; P = .0019), and bone marrow disease (3 of 7 vs 5 of 199 of those without bone marrow disease; P = .0013). Cholestasis was severe in 3 patients (all of whom had bone marrow disease, with liver failure and early death in 2), and transient in 5 patients. CONCLUSION: Neonatal cholestasis occurs in a significant percentage of patients with Down syndrome and is always associated with involvement of other organs. The outcome is variable, being most severe in newborns with the combination of neonatal cholestasis and bone marrow disease.
Asunto(s)
Colestasis/complicaciones , Colestasis/epidemiología , Síndrome de Down/complicaciones , Enfermedades de la Médula Ósea/diagnóstico , Colestasis/diagnóstico , Estudios de Cohortes , Síndrome de Down/diagnóstico , Femenino , Enfermedades Gastrointestinales/diagnóstico , Cardiopatías Congénitas/diagnóstico , Humanos , Incidencia , Recién Nacido , Masculino , Pediatría/métodos , Estudios Retrospectivos , SueciaRESUMEN
A 16-year-old Quarter Horse was admitted to the Veterinary Hospital after recurrent epistaxis episodes. Dyspnea and intolerance to exercise were noticed. An irregular multinodular mass was observed in the mucosa of the rostral nasal cavity, causing partial stenosis of the anterior airways. To improve the respiratory condition of the animal, most of the mass was surgically removed. Histologic examination revealed eosinophilic hyaline material in the lamina propria, walls of submucosal lymphatic and blood vessels, and basement membrane of mucosal glands of the nasal cavity. This material stained orange-red with Congo-red, with the characteristic green birefringence under polarizing light, confirming the amyloid diagnosis. Giant cells and mononuclear cell infiltrate were also observed. One year after the partial removal of the lesion, the horse had only mild respiratory signs.(AU)
Asunto(s)
Animales , Paraproteinemias/veterinaria , Enfermedades de la Médula Ósea/diagnóstico , Cadenas Ligeras de Inmunoglobulina , Caballos , Amiloidosis/veterinaria , BrasilRESUMEN
OBJECTIVE: Many disorders produce similar or overlapping patterns of bone marrow edema in the ankle. Bone marrow edema may present in a few hindfoot bones simultaneously or in a single bone. The purpose of this pictorial essay is to provide guidelines based on clinical history and specific MRI patterns and locations to accurately identify the cause of ankle bone marrow edema. We will first focus on bone marrow edema in general disease categories involving multiple bones, such as reactive processes, trauma, neuroarthropathy, and arthritides. A discussion of bone marrow edema in individual bones of the ankle and hindfoot including the tibia, fibula, talus, and calcaneus will follow. Helpful hints for arriving at the correct diagnosis will be provided in each section. CONCLUSION: After review of this article, radiologists should be able to use their knowledge of clinical history and specific MRI patterns and locations to accurately distinguish between the various causes of bone marrow edema in the ankle and hindfoot.
Asunto(s)
Tobillo , Enfermedades de la Médula Ósea/diagnóstico , Edema/diagnóstico , Pie , Imagen por Resonancia Magnética/métodos , Enfermedades de la Médula Ósea/etiología , Enfermedades de la Médula Ósea/patología , Edema/etiología , Edema/patología , HumanosRESUMEN
This article provides an overview of the current use of MR imaging in the evaluation of pediatric bone marrow disorders, illustrating their appearance on commonly used MR imaging sequences. Recognition of normal developmental bone marrow changes and variants is important in pediatric MR imaging interpretation, and in selection of appropriate acquisition sequences. This overview should serve as a practical aid in the interpretation of bone marrow lesions in children.
Asunto(s)
Enfermedades de la Médula Ósea/diagnóstico , Imagen por Resonancia Magnética/métodos , Médula Ósea/anatomía & histología , Médula Ósea/patología , Niño , Medios de Contraste , Diagnóstico Diferencial , Progresión de la Enfermedad , HumanosRESUMEN
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.
Asunto(s)
Humanos , Enfermedades de la Médula Ósea/diagnóstico , Enfermedades de la Médula Ósea/terapia , Leucopenia/terapia , Neutropenia/terapia , Enfermedades Hematológicas/diagnóstico , Enfermedades Hematológicas/terapia , Hematopoyesis , Mielopoyesis , PancitopeniaRESUMEN
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.
Asunto(s)
Enfermedades de la Médula Ósea/diagnóstico , Edema/diagnóstico , Articulación de la Cadera , Adulto , Enfermedades Óseas Metabólicas/diagnóstico , Diagnóstico Diferencial , Femenino , Necrosis de la Cabeza Femoral/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Embarazo , SíndromeRESUMEN
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).
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Embarazo , Enfermedades de la Médula Ósea/diagnóstico , Edema/diagnóstico , Articulación de la Cadera , Enfermedades Óseas Metabólicas/diagnóstico , Diagnóstico Diferencial , Necrosis de la Cabeza Femoral/diagnóstico , Imagen por Resonancia Magnética , SíndromeRESUMEN
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.
Asunto(s)
Enfermedades de la Médula Ósea/diagnóstico , Leucopenia/diagnóstico , Sarcoidosis/diagnóstico , Biopsia , Médula Ósea/patología , Enfermedades de la Médula Ósea/patología , Granuloma/diagnóstico , Granuloma/patología , Humanos , Leucopenia/patología , Masculino , Persona de Mediana Edad , Sarcoidosis/patología , Índice de Severidad de la EnfermedadRESUMEN
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
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Enfermedades de la Médula Ósea/diagnóstico , Leucopenia/diagnóstico , Sarcoidosis/diagnóstico , Biopsia , Enfermedades de la Médula Ósea/patología , Granuloma/diagnóstico , Granuloma/patología , Leucopenia/patología , Médula Ósea/patología , Sarcoidosis/patología , Índice de Severidad de la EnfermedadRESUMEN
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).