ABSTRACT
Apesar da prevalência da peritonite infecciosa felina (PIF) ser alta em praticamente o mundo todo, estudos anatomopatológicos recentes acerca dessa doença são escassos. Não obstante, as características microscópicas da medula óssea de gatos com PIF estão ausentes da literatura consultada. O objetivo deste artigo é descrever alterações medulares ósseas vistas em casos espontâneos de PIF. As medulas ósseas colhidas sistematicamente da região diafisária dos fêmures de 16 gatos necropsiados no Laboratório de Patologia Veterinária (LPV) da Universidade Federal de Santa Maria (UFSM), Rio Grande do Sul, entre janeiro de 2000 e junho de 2017, e que tiveram diagnóstico definitivo de PIF, foram avaliadas fenotípica (histopatologia - hematoxilina e eosina e histoquímica - reação de Perls) e imunofenotipicamente (utilizando marcadores mieloides (anti-MAC387) e de linfócitos (anti-CD79αcy e anti-CD3). Os resultados permitem afirmar que, independentemente da apresentação clinicopatológica da doença ocorrem as seguintes alterações: 1) hiperplasia mieloide; 2) hipoplasia eritroide, 3) displasia megacariocítica (dismegacariocitopoiese) e 4) plasmocitose medular. Exclusivamente nos casos de PIF seca há hemossiderose medular óssea e hepática. Essas alterações permitem estabelecer que gatos com PIF desenvolvem mielodisplasia, uma lesão mieloproliferativa muito semelhante àquela relatada em humanos infectados pelo HIV. Sugere-se que a partir dos achados aqui descritos, a mielodisplasia seja considerada a principal responsável pelas alterações hematológicas observadas na PIF, especialmente pela anemia e trombocitopenia arregenerativas frequentemente desenvolvidas pelos pacientes com essa doença.(AU)
Although the prevalence of feline infectious peritonitis (FIP) is high worldwide, recent anatomopathological studies about this disease are scarce. Information on the microscopic characteristics of the bone marrow in FIP-affected cats are absent in the available literature. Based on this, the purpose of this article is to describe bone marrow lesions seen in spontaneous cases of FIP. The bone marrow collected systematically from the femoral diaphysis of 16 cats necropsied in the Laboratory of Veterinary Pathology (LPV) of the Federal University (UFSM) of Southern Brazil, between January 2000 and June 2017, with a definitive diagnosis of FIP, were evaluated phenotypically (histopathology - hematoxylin and eosin and histochemistry - Perls stain) and immunophenotypically (immunohistochemistry using myeloid - Anti-MAC387, and lymphocytic - Anti-CD79 αcy and Anti-CD3 markers). Regardless the following was observed the clinicopathological form of the disease ("dry" - noneffusive or "wet" - effusive): 1) myeloid hyperplasia; 2) erythroid hipoplasia; 3) megakaryocytic dysplasia (dismegakaryocytopoiesis); and 4) medullary plasmacytosis. Exclusively in cases of "dry FIP" was bone marrow and hepatic hemosiderosis. These lesions allowed establishing that cats with FIP develop myelodysplasia, a myeloproliferative lesion very similar to that reported in HIV-infected humans. It is suggested that, based on the findings described here, myelodysplasia is considered to be the main cause of hematological abnormalities observed in FIP, especially for non-regenerative anemia and thrombocytopenia, frequently developed by patients.(AU)
Subject(s)
Animals , Cats , Cats/abnormalities , Feline Infectious Peritonitis/diagnosis , Hyperplasia/veterinary , Neural Tube Defects/diagnosisABSTRACT
Aim: Case report of association between diastematomyelia and medulloepithelioma. Method: 14-year-old patient with lower back pain and recent neurological deficit in extremities. CT and MRI scans of the thoracolumbar spine revealed a diastematomyelia. Intraoperative examination confirmed the presence of a spinal dysraphism and associated tumor, which was almost completely resected. Result: Histopathological and immunohistochemical findings were consistent with medulloepithelioma. Her postoperative course was uneventful. Conclusion: Diastematomyelia may manifest during adolescence as lower back pain and neurological deficit. The association of this malformation with a neoplasia is extremely rare; the present case describes concomitance with medulloepithelioma.
Reporte de un caso de asociación de diastematomielia y meduloepitelioma. Método: Paciente de 14 años con dolor lumbar y déficit neurológico en extremidades de reciente instalación. En TAC y RNM de columna dorsolumbar se pesquisa una diastematomielia. La exploración intraoperatoria, comprueba la presencia de una disrafia espinal y un tumor asociado al defecto, que se reseca casi en su totalidad. Resultado: Los hallazgos histopatológicos e inmunohistoquímicos son concordante con meduloepitelioma. La paciente tuvo un postoperatorio satisfactorio. Conclusión: La diastematomielia se puede manifestar durante la adolescencia como dolor lumbar y déficit neurológico. La asociación de esta malformación, con una neoplasia es muy poco frecuente, el presente caso describe la concomitancia con un meduloepitelioma.
Subject(s)
Humans , Adolescent , Female , Neural Tube Defects/complications , Neural Tube Defects/diagnosis , Spinal Cord Neoplasms/surgery , Spinal Cord Neoplasms/complications , Neuroectodermal Tumors, Primitive/surgery , Neuroectodermal Tumors, Primitive/complications , Low Back Pain/etiology , Spinal Cord Neoplasms/diagnosis , Spinal Dysraphism , Neuroectodermal Tumors, Primitive/diagnosisABSTRACT
A 50-year-old male presented with acutely progressed paraplegia. His magnetic resonance imaging demonstrated two well-demarcated components with opposite signals in one cystic lesion between the T1- and T2-weighted images at the T1 spine level. The patient showed immediately improved neurological symptoms after surgical intervention and the histopathological exam was compatible with a neurenteric cyst. On operation, two different viscous drainages from the cyst were confirmed. A unique similarity of image findings was found from a review of the pertinent literature. The common findings of spinal neurenteric cyst include an isointense or mildly hyperintense signal relative to cerebrospinal fluid for both T1- and T2-weighted images. However, albeit rarer, the signals of some part of the cyst could change into brightly hyperintensity on T1-weighted images and hypointensity on T2-weighted images due to the differing sedimentation of the more viscous contents in the cyst.
Subject(s)
Humans , Male , Middle Aged , Diagnosis, Differential , Magnetic Resonance Imaging , Neural Tube Defects/diagnosis , Spinal Cord/pathology , Spinal Cord Diseases/diagnosisABSTRACT
El diagnóstico es Diastematomielia.
Subject(s)
Humans , Male , Infant , Neural Tube Defects/complications , Neural Tube Defects/diagnosis , Neural Tube Defects , Argentina , Magnetic Resonance Spectroscopy , Spinal CordABSTRACT
INTRODUCCIÓN: El síndrome de médula espinal anclada es una malformación de la región caudal de la columna vertebral. Es una enfermedad poco frecuente que aparece en el 5 por ciento de la población, de inicio inhabitual y diagnóstico tardío en el adulto. Puede llevar a disfunciones neurológicas, musculoesqueléticas, urológicas o gastrointestinales. PRESENTACIÓN DEL CASO: Paciente de sexo masculino de 50 años, con evidencia clínica e imagenológica de síndrome de médula anclada de inicio sintomático en la vida adulta, con historia de aparente incontinencia urinaria de esfuerzo diagnosticada hace 10 años. Luego de estudio por urología se diagnostica hiperplasia prostática benigna, por lo que se realiza resección transuretral de próstata. Posterior a ello, persiste la incontinencia urinaria y la sintomatología, se solicita interconsulta con neurólogo diagnosticándose médula anclada asociada a lipoma lumbosacro. DISCUSIÓN: Los exámenes de imágenes obtenidos, junto a un examen físico dirigido, orientaron a un síndrome mucho más amplio como lo es el síndrome de médula anclada, en el que la clínica urológica inicial del paciente presentado es una de las muchas formas posibles de debut de un síndrome que a lo largo de la vida pasó desapercibido. La falta de antecedentes previos de disfunción medular en la infancia, es responsable de la complejidad para llegar al diagnóstico con mayor precisión. En adultos, el momento de la cirugía es controversial y no existe consenso neuroquirúrgico al respecto.
INTRODUCTION: The tethered spinal cord syndrome is a malformation of the caudal region of the spine. Is a rare disease that occurs in 5 percent of the population, with an unusual start, and late diagnosis in adult. It can lead to neurological, musculoskeletal, urologic or gastrointestinal disorders. CASE REPORT: Fifty-year old male patient with clinical and imaging evidence of tethered cord syndrome of symptomatic onset in adulthood, with urinary incontinence since 10 years ago. After study by urologist, benign prostatic hyperplasia is diagnosed and transurethral resection of the prostate is done, but urinary incontinence symptoms persist, requesting consultation with a neurologist who diagnosed tethered cord associated with a lumbosacral lipoma. DISCUSSION: The imaging examinations and the led physical examination, directed at a broader syndrome as tethered cord syndrome, in which patients initial clinical urological presented is one of the many possible manifestations of a syndrome throughout life go unnoticed. The absence of prior history of spinal cord dysfunction in childhood is responsible for the complexity to make the diagnosis more accurately. In adults, the time of surgery is controversial and no neurosurgical consensus exists.
Subject(s)
Humans , Male , Middle Aged , Spinal Cord Compression/complications , Spinal Cord Compression/diagnosis , Neural Tube Defects/complications , Neural Tube Defects/diagnosis , Diagnosis, Differential , Urinary Incontinence/etiology , LipomaABSTRACT
To study the incidence, types, and sites of neural tube defects [NTDs] and its associated maternal and environmental variables. All preterm and full term live and stillborn babies delivered at Al-Ramadi Maternity and Children's Hospital, Al-Anbar Governorate, Iraq, from the 1st of November 2007 to the 1st of November 2008 were examined for gender, gestational age, NTDs, and associated congenital malformations. Mother's data included age, parity, consanguinity, education, antenatal care, previous medical illnesses, other NTDs history, folic acid supplementation, and diagnostic ultrasound. Incidence was calculated per 1000 births. During the study, 33 infants were delivered with NTDs, giving an incidence of 3.3/1000 births. Most were of myelomeningocele and anencephaly types, and thoracolumbar and lumbosacral sites. Two-thirds of the cases found were from consanguineous marriage, 12 NTD's mothers took folic acid during their pregnancy, while none of them received the drug during the periconceptional period. Three mothers had another NTD affected babies before, and mothers 25-34 years old produced most of the NTD deliveries than any other age groups. The NTDs incidence is still high compared with developed, and some developing countries. High consanguinity marriage and 100% lack of periconceptional folic acid intake needs further study considerations to reduce such morbid and mortal anomalies
Subject(s)
Humans , Infant, Newborn , Adult , Female , Male , Neural Tube Defects/diagnosis , Anencephaly , Meningomyelocele , Mothers , Folic Acid , Cross-Sectional StudiesABSTRACT
Describir los defectos del tubo neural en productos menores de 20 semanas de gestación y destacar las implicaciones y utilidad de su diagnóstico en el asesoramiento a la pareja. Se realizó un estudio prospectivol, transeccional, descriptivo en una muestra no probabilística, constituida por productos de abortos espontáneos menores de 20 semanas de gestación. Se examinaron sistemáticamente las características morfológicas externas y los hallazgos anormales se registraron mediante descripción y fotografía. Laboratorio de Investigación Dr. Carlos R. Davauchelle, Cátedra de Histología y Embriología de la Universidad del Zulia, Maracaibo. De los 55 productos estudiados, 27 (49,09 por ciento) corresponden al sexo masculino, 21 (38,18 por ciento) al sexo femenino, y 7 (12,43 por ciento) cuyo sexo no pudo ser determinado de acuerdo a las características morfológicas de los genitales externos. Sólo 5 (9,09 por ciento) presentaron defectos del tubo neural y las anomalías encontradas fueron: anencefalia, craneorraquisquisis, espina bífida lumbosacra, iniencefalia y encefalocele. La identificación de los defectos del tubo neural en la muestra estudiada sirve como punto de partida para ofrecer asesoramiento médico a los padres acerca del riesgo de recurrencia, la utilización de medidas de prevención, el plan de acción a seguir ante futuros embarazos y la posibilidad de ofrecer el diagnóstico prenatal.
Subject(s)
Humans , Male , Female , Pregnancy , Abortion, Spontaneous/pathology , Congenital Abnormalities/embryology , Genetic Counseling/methods , Neural Tube Defects/diagnosis , ObstetricsABSTRACT
We report a case of 47-year-old women who presented with progressive lumbalgia since 14 years, exacerbated a year previously by bilateral lumbar radicular pain, gait disturbance and urinary retention for one month. Neurological examination found spastic paraparesia and cauda equina syndrome. X-rays were normal but lumbar spinal cord magnetic resonance images showed an intraduarl extramedullary space occupying lesion. The patient underwent L2-L5 laminectomy with total removed of the lesion [cystic, solid components and wall]. Postoperatively neurological deficits recovered totally within 2 weeks. Histological examination showed a Type A neuroenteric cyst
Subject(s)
Humans , Female , Neural Tube Defects/diagnosis , Neurologic Examination , Tomography, X-Ray Computed , Neurologic Manifestations , Postoperative ComplicationsABSTRACT
Las malformaciones congénitas constituyen la segunda causa de mortalidad infantil en nuestro medio, lo cual significa que nuestro comportamiento en términos de salud pública, es muy similar a los países desarrollados. Hay malformaciones de alto costo médico social en las cuales afortunadamente se puede intervenir eficazmente con medidas de prevención primaria o secundaria. Los defectos del tubo neural son una de ellas y en el mundo curiosamente, no son muchos los países que lo hacen. Afortunadamente, Chile ha tenido una actitud pionera en América con la implementación de un programa de fortificación de harinas que ha significado una disminución cercana al 50 por ciento en las tasas de frecuencia de la enfermedad. Los mecanismos bioquímicos exactos de la prevención no están claramente descritos, pero un papel importante juega el ácido fólico en la síntesis del ADN y en el metabolismo de la metionina/homocisteina, vías metabólicas claves del neuro desarrollo inicial. Lo más importante sin embargo, es que la prevención actúa sólo para aquellos casos típicamente dependientes de la neurulacion primaria y no para todos los defectos cráneo encefálicos.
Congenital anomalies are the second cause of infant mortality in Chile, which is similar to the findings in developed countries. The medical-social burden of some of these malformations is high, but some of them are able to undergo primary or secondary prevention. Neural tube defects are among them and unfortunately, a. global prevention is not the rule. Chile has been one of the pioneer countries with supplementation of folic acid fortification, which has resulted in a reduction in the prevalence of open neural tube defects in about 50 percent. The exact mechanisms involved in the prevention of open neural tube defects are not clear, but an important role has been ascribed to folic acid in the synthesis of DNA and metabolism of metionin-homocistein, key pathways for the early development of the neural tube. An important point is that fortification with folic acid only works in those defects associated with the primary neurulation and not to all cranio-encephalic defects.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Neural Tube Defects/diagnosis , Neural Tube Defects/physiopathology , Neural Tube Defects/metabolism , Prenatal Diagnosis , Folic Acid/metabolism , Anencephaly/etiology , Neural Tube Defects/epidemiology , Spinal Dysraphism/etiology , Homocysteine/metabolism , Methionine/metabolism , Risk FactorsABSTRACT
As malformações do sistema nervoso central têm alta incidência, de 5 a 10 por 1000 nascidos vivos, sendo muito freqüentes os defeitos abertos do tubo neural, de 1 a 1,5:1000 nascimentos. O diagnóstico pré-natal combinado, através da ultra-sonografia, dosagem de alfa-fetoproteína e a eletroforese de acetilcolinesterase pode levar à detecção de 100 porcento dos casos de anencefalia e espinha bífida aberta. A correção cirúrgica intra-útero tem sido preconizada mais recentemente com o intuito não só de diminuir as seqüelas decorrentes da hidrocefalia, como também de diminuir as seqüelas motoras dos membros. Entretanto, futuros estudos são necessários para confirmar esta hipótese. Na atualidade, vem ocorrendo uma diminuição significativa da incidência de espinha bífida, devido principalmente aos programas de enriquecimento de alimentos e orientação sobre o uso do ácido fólico para a prevenção dos defeitos de fechamento do tubo neural.
Subject(s)
Male , Female , Folic Acid/biosynthesis , Neural Tube Defects/diagnosis , Neural Tube Defects/prevention & control , Spinal Dysraphism/etiology , Spinal Dysraphism/therapy , Spinal Dysraphism , Meningomyelocele/surgery , Prenatal Diagnosis , Central Nervous System/abnormalities , Ultrasonography, PrenatalABSTRACT
Fanconi anemia is an autosomal recessive disorder characterized by phenotypic abnormalities, increased chromosomal breaks and predisposition to various hematological and non-hematological malignancies. We present case report of a paediatric patient with Fanconi anemia presenting as acute myeloid leukemia. The presence of dysplastic features in this marrow suggests the possibility of a prior stage of myelodysplasia progressing to leukemia.
Subject(s)
Bone Marrow/pathology , Child , Chromosome Breakage , Diagnosis, Differential , Fanconi Anemia/diagnosis , Humans , Leukemia, Myeloid, Acute/diagnosis , Male , Neural Tube Defects/diagnosisABSTRACT
Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be adequately delineated on US. We found MR imaging to be superior for depicting central nervous system abnormalities. MR imaging has evolved as an imaging modality and it is complementary to fetal US, yet US remains the screening modality of choice.
Subject(s)
Adult , Female , Humans , Pregnancy , Arthrogryposis/diagnosis , Clubfoot/diagnosis , Magnetic Resonance Imaging , Neural Tube Defects/diagnosis , Prenatal Diagnosis , Ultrasonography, PrenatalABSTRACT
La Anencefalia es uno de los defectos congénitos del sistema nervioso central, dado por la ausencia de huesos craneales y tejido encefálico. Este tubo neutral suele cerrarse alrededor de 28 días después de iniciarse el período de crecimiento. El origen de este tipo de malformación es multifactorial asociado principalmente a las deficiencias de folatos por parte de la gestante, igualmente se presume que la exposición a sustancias tóxicas y el consumo de drogas de abuso también se asocian a este tipo de alteración teratogénica. Se presentan en 1-2 de cada 1000 nacidos vivos. El diagnóstico es principalmente dado por estudio ecográfico a partir de la semana 14 de gestación, también se emplea la titulación de alfafetoproteínas y el estudio de líquido anmiótico. Lamentablemente la Anencefalia no tiene tratamiento ya que de sobrevivir al parto el producto vivirá menos de 12 horas. Es preciso que durante el control de la gestación el médico indique la ingesta de ácido fólico y multivitaminicos principalmente B12. Se presenta el caso de una paciente femenina de 27 años de edad, II gestas I para 0 abortos, quien consulta por presentar hallazgo ecográfico que evidencia alteración del cráneo, con una edad gestacional de 24 semanas, por eco, con un embarazo no controlado, refiere antecedente de consumo de drogas por parte de la pareja; igualmente niega ingesta de folatos, hierro o complejo B durante la gestación, refiere trabajar en una empresa productora de alimentos derivados de la papa. Razón por la cual acude a este centro donde se valora y se ingresa para discutir caso; se ingresa con el diagnóstico de embarazo de 25 semanas + 1 día por eco traspolado y ARO por malformación fetal: Anencefalia, no evidenciando alteración al examen físico obstétrico. En sala de hospitalización se realiza eco obstétrico que evidencia malformación fetal anencefalia y se decide trasladar a sala de parto para interrupción del embarazo, se induce trabajo de parto.
Subject(s)
Humans , Female , Pregnancy , Anencephaly/diagnosis , Anencephaly/genetics , Anencephaly/pathology , Cerebrum/abnormalities , Skull/abnormalities , Neural Tube Defects/diagnosis , Neural Tube Defects/genetics , Central Nervous System/abnormalities , Folic Acid/analysis , Alcoholism/etiology , Cyanosis/pathology , Chromosomes/genetics , Diabetes Mellitus/etiology , Brain/abnormalities , Obstetrics , Pediatrics , Tobacco Use Disorder/adverse effectsABSTRACT
A study carried out in two PAF hospitals radiology departments to determine the frequency of different anomalies by ultrasonographic detection. We subjected the pregnant ladies for ultrasonography who had basic screening done in obstetric department and had suspicion of some anomaly and were sent for detailed scanning. Other groups of patients were those who had bad obstetric history and sent from gynecological department for detailed scanning. About 200 patients were scanned, Out of these 134 had different anomalies and the commonest was from central nervous system with relatively more prevalent in cousin marriages. The study concluded in a small section of population showed the preponderance of neural tube defects as detected by ultrasonography but an area which was not subjected to detailed scanning was cardiac anomaly scanning due to non-availability of equipment and expertise in peripheral hospitals and may be possible in dedicated tertiary care hospitals
Subject(s)
Humans , Female , Congenital Abnormalities/diagnosis , Congenital Abnormalities/diagnostic imaging , Congenital Abnormalities/epidemiology , Prenatal Care/instrumentation , Ultrasonography, Prenatal , Fetus/abnormalities , Neural Tube Defects/epidemiology , Neural Tube Defects/diagnosisABSTRACT
Although lumbosacral lipoma is reported to occur in 4-8 of 100,000 patients, and 66% of lipomyelomeningoceles in young patients are accompanied by hypertrophic filum terminale, it is very rare to find two isolated spinal lipomas simultaneously. A 3 month-old baby girl was admitted to the hospital for a protruding, non-tender, soft, subcutaneous 2.5 cm mass of the lumbosacral area that had been present since birth. Simple radiography showed a spinal posterior arch defect from L3 to L5, and magnetic resonance imaging (MRI) demonstrated two isolated spinal lipomas, a transitional type from L3 to L5, and a terminal type below S1 without dural defect. The cornus medullaris was severely tethered descending to the S1, but there was no cerebellar or brain stem herniation on the MRI. We suggest that the presence of a combined spinal lipoma should be a point for careful differentiation in an infant with spinal lipoma.
Subject(s)
Infant , Humans , Female , Treatment Outcome , Spinal Cord Neoplasms/diagnosis , Neural Tube Defects/diagnosis , Lumbosacral Region/surgery , Lipoma/diagnosisABSTRACT
OBJECTIVES: Neural tube defects (NTDs), (including anencephaly, meningomyelocele and encephalocele), are among the most common birth defects, with high associated mortality and morbidity. NTDs occur in 1-5 per 1,000 births, with marked geographic and ethnic variations. However, there are few data concerning the incidence, associated anomalies, treatment and outcome of NTDs in Thailand. The objective of this study is to analyze data on NTD cases from 1990-1999 at Siriraj Hospital, a hospital with 18,000-20,000 deliveries annually. MATERIAL AND METHOD: A retrospective chart review of patients with NTDs who were born at or referred to Siriraj Hospital 1990-1999 was performed. RESULTS: During the 10 year period we examined, there were 115 patients with NTDs treated in the Department of Pediatrics as well as in other Departments at Siriraj Hospital. The incidence of NTD is 0.67 per 1,000 births. The sex distribution was equal among NTD cases, 55 (48%) females, 59 (51%) males and one (1%) unidentified sex. Isolated NTDs accounted for 105 (91%) cases, and 10 (8.7%) had at least 1 other structural anomaly such as cleft lip/palate, imperforate anus, amniotic band sequence, or ambiguous genitalia. Among all NTD cases, there were 55 (48%) with myelomeningocele, 45 (39%) with anencephaly, and 14 (12%) with encephalocele. Seventeen (15%) cases died; among these, 7 (41% of deaths) died in utero, 8 (47% of deaths) died in the early neonatal period, and 2 (12%) died after 1 year of age. Regarding treatment, 95 surgical corrections, 47 excisions and repairs, 45 excisions and VP shunts, 1 laminectomy and 2 club feet corrections were performed. CONCLUSIONS: In this hospital-based study of 115 patients with NTD, we found an incidence of 0.67/1000 births; however, as this was a hospital-based study, the community incidence is likely higher. Most cases were isolated NTDs, and almost half of NTDs were meningomyelocele. There was a high rate of mortality. Further studies are warranted to better elucidate the health burden from NTDs in Thailand. Public health interventions aimed at increasing the periconceptional consumption of folic acid should be implemented or enhanced to reduce the incidence of NTDs in Thailand.