RESUMEN
PONTOS-CHAVE ⢠A incidência de câncer durante a gestação tem aumentado devido à tendência das mulheres em postergar a gravidez. O câncer de colo de útero é a terceira neoplasia mais comumente diagnosticada durante o período gestacional. ⢠O rastreamento e o diagnóstico devem se dar como nas pacientes não gestantes; a citologia oncótica cervical é o exame obrigatório do pré-natal, e a colposcopia com biópsia pode ser realizada em qualquer período da gestação. ⢠A gestação complicada pelo diagnóstico de um câncer deve sempre ser conduzida em centro de referência e por equipe multidisciplinar. ⢠A interrupção da gestação em situações específicas, para tratamento-padrão, é respaldada por lei. ⢠A quimioterapia neoadjuvante é uma alternativa segura de tratamento durante a gestação, para permitir alcançar a maturidade fetal. Apresenta altas taxas de resposta, sendo relatada progressão neoplásica durante a gestação em apenas 2,9% dos casos. O risco de malformações fetais decorrentes da quimioterapia é semelhante ao da população geral. Contudo, a quimioterapia está associada a restrição de crescimento intraútero, baixo peso ao nascer e mielotoxicidade neonatal. ⢠Na ausência de progressão de doença, deve-se levar a gestação até o termo.
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Humanos , Femenino , Embarazo , Embarazo , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/prevención & control , Salud de la Mujer , Complicaciones Neoplásicas del Embarazo/prevención & control , Diagnóstico Prenatal , Tórax/diagnóstico por imagen , Anomalías Congénitas/embriología , Médula Ósea/anomalías , Recién Nacido de Bajo Peso , Colposcopía/métodos , Conización/métodos , Terapia Neoadyuvante/efectos adversos , Retardo del Crecimiento Fetal , Espera Vigilante/métodos , Traquelectomía/métodos , Abdomen/diagnóstico por imagenRESUMEN
Revesz syndrome is a rare telomeropathy characterized by bone marrow failure and exudative retinopathy. We report the case of a 2-year-old male child, initially treated with bilateral laser photocoagulation for retinopathy of prematurity. He developed exudative changes in the right eye, presumed to be Coats disease. Later, the left eye developed a total vitreous hemorrhage. Proliferative retinopathy was noted intraoperatively. Systemic features of bone marrow failure, growth retardation, and nail pigmentation were present. Genetic testing confirmed the diagnosis of Revesz syndrome. We describe our approach to diagnosis and surgical management of the case. [Ophthalmic Surg Lasers Imaging Retina 2022;53(6): 346-348.].
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Enfermedades Óseas Metabólicas , Telangiectasia Retiniana , Médula Ósea/anomalías , Trastornos de Fallo de la Médula Ósea , Niño , Preescolar , Humanos , Recién Nacido , Masculino , RetinaAsunto(s)
Enfermedades Óseas Metabólicas/complicaciones , Médula Ósea/anomalías , Disqueratosis Congénita/complicaciones , Retina/diagnóstico por imagen , Telangiectasia Retiniana/etiología , Femenino , Angiografía con Fluoresceína/métodos , Fondo de Ojo , Humanos , Lactante , Telangiectasia Retiniana/diagnósticoAsunto(s)
Extremidad Inferior/diagnóstico por imagen , Anciano , Médula Ósea/anomalías , Médula Ósea/diagnóstico por imagen , Femenino , Humanos , Leucemia Linfocítica Crónica de Células B/complicaciones , Leucemia Linfocítica Crónica de Células B/diagnóstico por imagen , Leucemia Linfocítica Crónica de Células B/fisiopatología , Extremidad Inferior/fisiopatología , Imagen por Resonancia Magnética/métodos , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodosRESUMEN
OBJECTIVE: To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individuals with a telomere biology disorder, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and Coats plus. STUDY DESIGN: Clinical Care Consortium for Telomere Associated Ailments members were invited to contribute data on individuals with telomere biology disorders at their institutions who experienced GI bleeding. Patient demographic, laboratory, imaging, procedural, and treatment information and outcomes were extracted from the medical record. RESULTS: Sixteen patients who experienced GI hemorrhage were identified at 11 centers. Among 14 patients who underwent genetic testing, 8 had mutations in TINF2, 4 had mutations in CTC1 or STN1, and 1 patient each had a mutation in TERC and RTEL1. Ten patients had a history of hematopoietic cell transplantation. The patients with Coats plus and those without Coats plus had similar clinical features and courses. Angiodysplasia of the stomach and/or small bowel was described in 8 of the 12 patients who underwent endoscopy; only 4 had esophageal varices. Various medical interventions were trialed. No single intervention was uniformly associated with cessation of bleeding, although 1 patient had a sustained response to treatment with bevacizumab. Recurrence was common, and the overall long-term outcome for affected patients was poor. CONCLUSIONS: GI bleeding in patients with telomere biology disorders is associated with significant morbidity and with vascular ectasias rather than varices.
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Hemorragia Gastrointestinal/etiología , Telómero/genética , Adolescente , Adulto , Ataxia/complicaciones , Ataxia/genética , Enfermedades Óseas Metabólicas/complicaciones , Enfermedades Óseas Metabólicas/genética , Médula Ósea/anomalías , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/genética , Calcinosis/complicaciones , Calcinosis/genética , Quistes del Sistema Nervioso Central/complicaciones , Quistes del Sistema Nervioso Central/genética , Niño , Preescolar , Disqueratosis Congénita/complicaciones , Disqueratosis Congénita/genética , Femenino , Retardo del Crecimiento Fetal/genética , Hemorragia Gastrointestinal/genética , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Leucoencefalopatías/complicaciones , Leucoencefalopatías/genética , Masculino , Microcefalia/complicaciones , Microcefalia/genética , Espasticidad Muscular/complicaciones , Espasticidad Muscular/genética , Mutación , Retina , Enfermedades de la Retina/complicaciones , Enfermedades de la Retina/genética , Convulsiones/complicaciones , Convulsiones/genética , Telómero/metabolismo , Telómero/patología , Adulto JovenRESUMEN
BACKGROUND: Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. METHODS: To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. In addition, we herein describe the first recorded patient in central Europe. RESULTS: The literature review included 18 children. Clinical features are summarized, indicating a low prevalence of the classical DKC triad. All patients experienced early bone marrow failure, in most cases within the second year of life (median age 1.5 years; 95% CI 1.4-1.6). Retinopathy occurred typically between 6 and 18 months of age (median age 1.1 years; 95% CI 0.7-1.5). The incidence of seizures was low and was present in an estimated 20% of patients. The onset of seizures was exclusively during early childhood. The Kaplan-Meier estimate of survival was dismal (median survival 6.5 years; 95% CI 3.6-9.4), and none of the patients survived beyond the age of 12 years. Stem cell transplantation (SCT) was performed in eight children, and after a median of 22 months from SCT four of these patients were alive at the last follow up visit. CONCLUSION: RS is a severe variant of DKC with early bone marrow failure and retinopathy in all patients. Survival is dismal, but stem cell transplantation may be performed successfully and might improve prognosis in the future.
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Disqueratosis Congénita , Enfermedades Óseas Metabólicas , Médula Ósea/anomalías , Niño , Preescolar , Disqueratosis Congénita/genética , Europa (Continente) , Humanos , Lactante , RetinaAsunto(s)
Enfermedades Óseas Metabólicas/diagnóstico , Médula Ósea/anomalías , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Calcinosis/diagnóstico , Ojo/patología , Biopsia , Médula Ósea/patología , Humanos , Inmunohistoquímica , Lactante , Imagen por Resonancia Magnética , Masculino , Fenotipo , Retina , Tomografía Computarizada por Rayos XRESUMEN
It is important to review the physics of current MRI developments in nontraumatic spinal imaging and their specific applications for assessing the bone marrow. Techniques include chemical shift imaging and its use in differentiating aggressive from benign lesions and in confirming the presence of diffuse red marrow conversion, which may mimic diffuse marrow infiltration in metastatic disease. The principles of dynamic contrast MRI and its uses in multiple myeloma and discriminating between postoperative change/scarring versus recurrence in soft-tissue tumors warrant discussion. The basic physics of diffusion-weighted imaging (DWI) in bone marrow pathologies are distinguished from the principles of DWI as applied to solid organs, and DWI is used in the staging of multiple myeloma and in differentiating between benign versus malignant compressive vertebral fractures. The orthopaedic surgeon should be knowledgeable about whole-body MRI principles and its uses in staging multiple myeloma and sarcoma. Knowledge about PET-MRI principles and its limitations as well as its potential use in assessing the subchondral bone plate and bony remodeling is also important. This technique may play a role in the future for predicting progression to osteoarthritis.
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Médula Ósea/anomalías , Anomalías Musculoesqueléticas/diagnóstico por imagen , Columna Vertebral , Humanos , Imagen por Resonancia Magnética , Mieloma Múltiple , Recurrencia Local de Neoplasia , Fracturas de la Columna VertebralRESUMEN
A leucemia linfoblástica aguda (LLA) é uma enfermidade de origem linfóide e consiste na proliferação de células neoplásicas na medula óssea. O objetivo desse trabalho é relatar o caso de um cão macho, sem raça definida, de apenas um ano de idade, atendido no Hospital Universitário de Medicina Veterinária Prof. Firmino Mársico Filho (HUVET) da Universidade Federal Fluminense (UFF) com queixa principal de inapetência e diarreia há três dias e que foi diagnosticado com essa neoplasia por meio da sintomatologia clínica, resultados do hemograma e do mielograma. O paciente apresentava valores exacerbados de linfócitos (553.094 células/µL), além de anemia, trombocitopenia, hipoalbuminemia e elevação da atividade das enzimas fosfatase alcalina e ALT. Foram observadas manchas de Gümprecht, linfócitos atípicos apresentando anisocitose, anisocariose, intensa basofilia citoplasmática e monócitos ativados. O mielograma apresentou também um aumento de linfócitos e contagem de linfoblastos superior a 30% na medula, confirmando o diagnóstico de leucemia linfoblástica aguda. Ademais, posteriormente, foi realizado exame de Reação em Cadeia de Polimerase (PCR) para rearranjos de receptores de antígenos e foi detectado clonalidade para linfócitos T. O animal foi submetido à quimioterapia (protocolo com ciclofosfamida, vincristina e prednisona) mas não resistiu à gravidade do quadro, vindo a óbito após a primeira sessão, pouco tempo após o diagnóstico.
Acute lymphoblastic leukemia (LLA) is a disease with a lymphoid origin and consists of the proliferation of neoplastic cells in the bone marrow. The aim of this study was to report the case of only one year old mixed breed male dog, attended at the University Hospital of Veterinary Medicine Prof. Firmino Mársico Filho (HUVET) from Universidade Federal Fluminense (UFF), with major complaint of inappetence and diarrhea three days ago and which was diagnosed with this neoplasm through clinical symptoms, complete blood count and myelogram results. The patient had increased values of lymphocytes (553,094 cells/µL), in addition to anemia, thrombocytopenia, hypoalbuminemia and elevated alkaline phosphatase and ALT activities. Gümprecht shadows, atypical lymphocytes presenting anisocytosis, anisocariosis, and severe cytoplasmic basophilia and activated monocytes were observed. Myelogram also showed an increase in lymphocytes and a lymphoblastic count greater than 30% in the marrow, confirming the diagnosis of LLA. In addition, polymerase chain reaction (PCR) for antigen receptor rearrangements was performed and clonality for T lymphocytes was detected. The animal underwent chemotherapy (protocol with cyclophosphamide, vincristine and prednisone), but did not withstand the severity of the disease, coming to death after the first session, shorly after diagnosis.
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Animales , Perros , Quimioterapia Adyuvante/veterinaria , Perros/anomalías , Leucemia-Linfoma Linfoblástico de Células T Precursoras/veterinaria , Linfocitosis/veterinaria , Médula Ósea/anomalías , Leucemia/veterinariaAsunto(s)
Médula Ósea/metabolismo , Neoplasias Encefálicas/genética , Neoplasias Colorrectales/genética , Síndromes Neoplásicos Hereditarios/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Anticuerpos Biespecíficos/administración & dosificación , Anticuerpos Biespecíficos/uso terapéutico , Antineoplásicos Inmunológicos/administración & dosificación , Antineoplásicos Inmunológicos/uso terapéutico , Médula Ósea/anomalías , Médula Ósea/patología , Neoplasias Encefálicas/complicaciones , Niño , Neoplasias Colorrectales/complicaciones , Resultado Fatal , Humanos , Inotuzumab Ozogamicina/administración & dosificación , Inotuzumab Ozogamicina/uso terapéutico , Masculino , Mutación/genética , Síndromes Neoplásicos Hereditarios/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/etiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologíaRESUMEN
RATIONALE: Signet-ring cell is a rare morphological finding in bone marrow, which usually indicates metastatic carcinoma from either the gastrointestinal tract or a primary hematolymphoid neoplasm. Here, we present a very unusual case of lobular breast carcinoma with metastasis to the bone marrow. PATIENT CONCERNS: A 67-year-old female with estrogen receptor (ER)-positive lobular breast carcinoma was staged as T3N3M0, and treated with modified radical mastectomy followed by chemotherapy and radiotherapy. One year after treatment, she was noted to have moderate thrombocytopenia on complete blood count with the remainder of the parameters within normal limits. Radiographic examination revealed no evidence of recurrent disease. DIAGNOSIS: Bone marrow biopsy was performed to exclude therapy-related myelodysplastic syndrome (MDS), which demonstrated hypercellularity with "hyperplastic" hematopoiesis. Upon closer inspection, a few signet-ring cells were identified which morphologically resembled histiocytes. These formed an interstitial infiltrate among the predominantly hematopoietic elements, and could have been easily overlooked. Immunohistochemistry demonstrated that these signet-ring cells were positive for pancytokeratin as well as ER which confirmed metastatic lobular breast carcinoma. On retrospective review of the aspirate smear, rare signet-ring cells were identified. INTERVENTIONS: The patient was treated with additional chemotherapy. OUTCOMES: The patient eventually succumbed to overt dissemination after 14 months. LESSONS: Due to the relative discohesiveness of lobular breast carcinoma, the cells frequently assume single-cell infiltration in bone marrow. This attribute, along with small cell size, bland cytologic features and paucity of tissue response, contributes to its escaping from identification on hematoxylin-eosin (H&E) sections. In this case, the signet-ring cells were hidden in apparently hyperplastic hematopoiesis. Careful inspection raised the possibility of occult metastasis which was readily detected and confirmed with immunohistochemistry.
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Neoplasias de la Mama/complicaciones , Carcinoma de Células en Anillo de Sello/etiología , Anciano , Biopsia/métodos , Médula Ósea/anomalías , Médula Ósea/patología , Médula Ósea/fisiopatología , Neoplasias de la Mama/patología , Quimioterapia/métodos , Femenino , Humanos , Mastectomía/métodos , Radioterapia/métodosAsunto(s)
Enfermedades Óseas Metabólicas/etiología , Enfermedades Óseas Metabólicas/patología , Médula Ósea/anomalías , Mutación , Índice de Severidad de la Enfermedad , Proteínas de Unión a Telómeros/genética , Médula Ósea/patología , Resultado Fatal , Humanos , Lactante , Masculino , Retina/patologíaAsunto(s)
Enfermedades Óseas Metabólicas/terapia , Médula Ósea/anomalías , Disqueratosis Congénita/terapia , Trasplante de Células Madre Hematopoyéticas/métodos , Donantes de Tejidos , Donante no Emparentado/provisión & distribución , Enfermedades Óseas Metabólicas/clasificación , Enfermedades Óseas Metabólicas/patología , Médula Ósea/patología , Disqueratosis Congénita/clasificación , Disqueratosis Congénita/patología , Femenino , Humanos , Lactante , Pronóstico , Retina/patología , Acondicionamiento Pretrasplante , Trasplante HomólogoRESUMEN
We aimed to determine the clinical and prognostic significance of medullary abnormalities detected by low-dose whole-body multidetector computed tomography (MDCT) in the appendicular skeleton (AS) of patients with newly diagnosed symptomatic multiple myeloma (MM). One hundred ninety-six patients underwent low-dose whole-body MDCT as an initial workup. Patients were categorized into 3 groups based on the medullary pattern of the AS: fatty (36.3%), focal (43.4%), and diffuse (20.4%). Medullary abnormalities were associated with Durie-Salmon and revised International Scoring System stage 3, creatinine levels >2.0 mg/dL, and the proportion of bone marrow plasma cells. The median follow-up was 35.4 months. Patients with fatty, focal, and diffuse patterns had a median survival of not reached, 56 months, and 38 months, respectively. Overall survival (OS) was associated with age, Durie-Salmon stage 3, creatinine levels >2.0 mg/dL, ineligibility for autologous stem cell transplantation, and focal and diffuse patterns on univariate analysis. Multivariate analysis showed that age and diffuse pattern (hazard ratio [HR], 1.92; 95% confidence interval [CI], 1.12-3.31; P = .018) were independent predictors of progression-free survival. Age and focal (HR, 2.51; 95% CI, 1.14-5.56; P = .023) and diffuse (HR, 4.12; 95% CI, 1.74-9.77; P = .001) patterns were also independent predictors of OS. The addition of marrow pattern to preexisting risk factors was associated with a net reclassification improvement for predicting OS (to 0.37, P = .015). Medullary abnormalities in the AS (detected by low-dose whole-body MDCT) are associated with a poor prognosis, independent of other clinical variables.
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Médula Ósea , Huesos , Tomografía Computarizada Multidetector , Mieloma Múltiple , Adulto , Anciano , Anciano de 80 o más Años , Médula Ósea/anomalías , Médula Ósea/diagnóstico por imagen , Huesos/anomalías , Huesos/diagnóstico por imagen , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Mieloma Múltiple/diagnóstico por imagen , Mieloma Múltiple/mortalidad , Tasa de SupervivenciaRESUMEN
A 13-month-old boy with mild hemophilia A presented for strabismus evaluation and was found to have retinal hemorrhages in the right eye, left exotropia, and left total retinal detachment. These findings were attributed to trauma and hemophilia A. Routine blood work for hemophilia A subsequently showed pancytopenia. A bone marrow aspirate showed marked hypocellularity consistent with severe aplastic anemia, and telomere testing revealed very short telomeres. The patient was found to have a TINF2 mutation consistent with a diagnosis of Revesz syndrome, a variant of dyskeratosis congenita. He underwent successful bone marrow transplantation, and on subsequent evaluation was found to have retinal hemorrhages, vessel sclerosis, and cotton wool spots in the right eye associated with peripheral retinal nonperfusion. He underwent retinal laser treatment to the areas of retinal nonperfusion which resulted in stable visual function.
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Enfermedades Óseas Metabólicas/diagnóstico , Médula Ósea/anomalías , Desprendimiento de Retina/diagnóstico , Adolescente , Enfermedades Óseas Metabólicas/genética , Enfermedades Óseas Metabólicas/cirugía , Médula Ósea/cirugía , Encéfalo/diagnóstico por imagen , Análisis Mutacional de ADN , Disqueratosis Congénita/diagnóstico , Disqueratosis Congénita/genética , Disqueratosis Congénita/cirugía , Humanos , Coagulación con Láser , Imagen por Resonancia Magnética , Masculino , Mutación , Retina/cirugía , Desprendimiento de Retina/genética , Desprendimiento de Retina/cirugía , Proteínas de Unión a Telómeros/genéticaRESUMEN
MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as 'founder' mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age. The diagnostic classification, now in use, is the one of the World Health Organization, revised in August 2016. It recognizes six distinct entities in addition to a provisional entity of childhood. In most of the cases, diagnosis is based on the morphologic quantitative and qualitative evaluation of the peripheral blood and bone marrow using basic hematological techniques. Bone marrow biopsy and flow cytometric immunophenotyping also offer support for further diagnostic elucidation, while cytogenetics and molecular genetics are presently fully integrated into prognostication, treatment processes, and decision-making.
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Síndromes Mielodisplásicos/diagnóstico , Médula Ósea/anomalías , Médula Ósea/patología , Deleción Cromosómica , Cromosomas Humanos Par 7/genética , Epigénesis Genética , Eritrocitos Anormales/patología , Incidencia , Síndromes Mielodisplásicos/clasificación , Síndromes Mielodisplásicos/epidemiología , Fosfoproteínas/genética , Pronóstico , Factores de Empalme de ARN/genéticaRESUMEN
No disponible
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Humanos , Femenino , Adolescente , Aspergilosis Pulmonar/diagnóstico , Médula Ósea/anomalías , Infecciones Oportunistas/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicacionesRESUMEN
Prolonged isolated thrombocytopenia (PT) is a serious complication after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Whether abnormalities of the bone marrow (BM) immune microenvironment are involved in the pathogenesis of PT remains unknown, however. Twenty patients with PT, 40 matched patients with good graft function (GGF) after allo-HSCT, and 20 healthy donors (HD) were enrolled in this nested case-control study. Th1, Th2, Tc1, Tc2, Th17, and Treg cells were analyzed by flow cytometry, and IFN-γ, IL-4, IL-17, IL-6, IL-21, and thrombopoietin levels in BM plasma were evaluated with a cytometric bead assay and ELISA. Relative to GGF patients and HD controls, PT patients had significantly higher proportions of Th1 and Tc1 cells, resulting in higher Th1/Th2 and Tc1/Tc2 ratios in the BM microenvironment. In addition, the excessive polarization of Th17 was observed in patients with PT. Changes in BM plasma cytokines were consistent with our cellular findings. These results suggest that dysregulated T cell responses in the BM microenvironment might play an important role in the pathogenesis of PT.
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Médula Ósea/patología , Microambiente Celular/inmunología , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Subgrupos de Linfocitos T/inmunología , Trombocitopenia/etiología , Adolescente , Adulto , Médula Ósea/anomalías , Estudios de Casos y Controles , Citocinas/sangre , Femenino , Supervivencia de Injerto , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Subgrupos de Linfocitos T/citología , Linfocitos T Citotóxicos , Linfocitos T Reguladores , Células TH1 , Células Th17 , Trombocitopenia/patología , Factores de Tiempo , Trasplante Homólogo , Adulto JovenRESUMEN
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies. RESULTS: Both twins exhibited widespread avascularity and anomalous vasculature of the retinal periphery, retinal telangiectasias, and exudation. One twin developed a combination exudative/tractional/rhegmatogenous retinal detachment, while the other exhibited a focal collection of buds of retinal neovascularization. Both twins developed bone marrow failure and were found to have cerebellar hypoplasia and widespread cerebral calcifications. Telomere testing in lymphocytes and granulocytes revealed telomere length less than the 1st percentile for age, and gene sequencing revealed a novel mutation in the TINF2 gene, resulting in the T284P TIN2 protein variant. CONCLUSIONS: We report ophthalmic findings in twins with Revesz syndrome due to a previously unreported mutation in TINF2 and propose that phenotypic and molecular overlaps between DKC spectrum disorders and pediatric retinal vasculopathies may reflect a shared pathophysiologic basis.
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Enfermedades Óseas Metabólicas/genética , Médula Ósea/anomalías , Enfermedades en Gemelos/genética , Mutación , Enfermedades de la Retina/genética , Vasos Retinianos/patología , Proteínas de Unión a Telómeros/genética , Gemelos Monocigóticos/genética , Enfermedades Óseas Metabólicas/diagnóstico , Encéfalo/anomalías , Femenino , Angiografía con Fluoresceína , Edad Gestacional , Humanos , Lactante , Imagen por Resonancia Magnética , Fotograbar , Reacción en Cadena de la Polimerasa , Retina , Enfermedades de la Retina/diagnósticoRESUMEN
PURPOSE: To report a novel presentation of dyskeratosis congenita masquerading as familial exudative vitreoretinopathy. METHODS: Observational case series involving single family and literature review. RESULTS: A brother and sister were diagnosed with familial exudative vitreoretinopathy at ages 4 and 2, respectively. Both patients were managed with laser photocoagulation. Eight years after the initial presentation, both siblings developed pancytopenia secondary to bone marrow failure. Laboratory work-up revealed severely shortened telomere length in both patients, and genetic testing revealed a missense mutation in the gene that encodes the reverse transcriptase component of telomerase, confirming the diagnosis of dyskeratosis congenita. The father of both children was a carrier of the same mutation, who exhibited marked retinal vascular tortuosity of the second-order vessels. CONCLUSION: Dyskeratosis congenita is a severe multisystem disorder, which should be considered in cases of pediatric exudative retinopathies with concurrent signs and/or symptoms of bone marrow failure.