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1.
Neuroradiology ; 66(6): 1043-1047, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38558180

RESUMEN

BACKGROUND: Thiamine deficiency disease may occur in infants from thiamine-deficient mothers in developing countries, as well as in infants fed solely with soy-based formula. Thiamine deficiency in infants may present with acute neurological manifestations of infantile encephalitic beriberi. OBJECTIVE: To review the role of noncontrast CT brain findings in infantile encephalitic beriberi in early diagnosis. MATERIALS AND METHODS: A retrospective review of noncontrast CT scans of the brain in 21 infants with acute-onset infantile encephalitic beriberi was carried out. RESULTS: On noncontrast-enhanced CT brain, hypodense lesions were seen symmetrically in the putamen in all the babies; symmetric hypodensities were seen in the caudate nuclei in 14/21 (67%), in dorsomedial thalami/hypothalamic/subthalamic area in 4/21 (19%), and in the globi pallidi in 2/21 (9.5%) of the infants. CONCLUSION: Recognition of symmetrical hypodense lesions in the basal ganglia and medial thalami/hypothalamic/subthalamic area on noncontrast CT scan of the brain are important early features to recognize in encephalitic beriberi in at-risk infants. ADVANCES IN KNOWLEDGE: IEBB is a cause of hypodense bilateral basal ganglia and may be identified by this finding in the appropriate clinical settings.


Asunto(s)
Beriberi , Diagnóstico Precoz , Tomografía Computarizada por Rayos X , Humanos , Lactante , Femenino , Masculino , Tomografía Computarizada por Rayos X/métodos , Estudios Retrospectivos , Beriberi/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Recién Nacido
3.
Pediatr Radiol ; 46(1): 96-103, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26286085

RESUMEN

BACKGROUND: Thiamine deficiency in infants is still encountered in developing countries. It may present with acute neurological manifestations of infantile encephalitic beriberi. OBJECTIVE: To review brain MRI findings in infantile encephalitic beriberi from a single institution. MATERIALS AND METHODS: A retrospective review of MRI scans in 22 infants with acute-onset beriberi encephalopathy was carried out. RESULTS: Hyperintense lesions on T2-weighted images were seen symmetrically in the putamen in all patients, in the caudate nuclei in 16/22 (73%), the thalami in 7/22 (32%) and the globi pallidi in 3/22 (14%) of the infants. Altered signal intensity lesions in the cerebral cortex were seen in 7/22 (32%). The mammillary bodies were seen in one infant and the periaqueductal gray matter in two. There was restricted diffusion in 14/22 (64%), and 6/8 children with no evidence of restriction had been imaged ≥10 days after presentation. MR spectroscopy showed increased lactate peak in 6/8 infants (75%). CONCLUSION: Recognition of symmetrical T2-W hyperintense lesions in the basal ganglia with restricted diffusion and prominent lactate peak may allow early diagnosis of encephalitic beriberi in at-risk infants.


Asunto(s)
Encéfalo/patología , Imagen por Resonancia Magnética/métodos , Encefalopatía de Wernicke/patología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
5.
Antibiotics (Basel) ; 13(3)2024 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-38534662

RESUMEN

Addressing the emergence of antimicrobial resistance (AMR) poses a significant challenge in veterinary and public health. In this study, we focused on determining the presence, phenotypic background, and genetic epidemiology of plasmid-mediated colistin resistance (mcr) in Escherichia coli bacteria isolated from camels farmed in the United Arab Emirates (UAE). Fecal samples were collected from 50 camels at a Dubai-based farm in the UAE and colistin-resistant Gram-negative bacilli were isolated using selective culture. Subsequently, a multiplex PCR targeting a range of mcr-genes, plasmid profiling, and whole-genome sequencing (WGS) were conducted. Eleven of fifty camel fecal samples (22%) yielded colonies positive for E. coli isolates carrying the mcr-1 gene on mobile genetic elements. No other mcr-gene variants and no chromosomally located colistin resistance genes were detected. Following plasmid profiling and WGS, nine E. coli isolates from eight camels were selected for in-depth analysis. E. coli sequence types (STs) identified included ST7, ST21, ST24, ST399, ST649, ST999, and STdaa2. Seven IncI2(delta) and two IncX4 plasmids were found to be associated with mcr-1 carriage in these isolates. These findings represent the first identification of mcr-1-carrying plasmids associated with camels in the Gulf region. The presence of mcr-1 in camels from this region was previously unreported and serves as a novel finding in the field of AMR surveillance.

6.
Am J Kidney Dis ; 57(2): 347-51, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20888101

RESUMEN

Fluid collections around the kidneys on cross-sectional imaging may be caused by urine, blood, pus, lymph, or plasma. Ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI) can not only show and characterize the fluid, but also may help determine the underlying cause of the perinephric fluid collection, such as ureteric obstruction, kidney injury, infection, or renal lymphangiectasia. Renal lymphangiectasia is characterized by abnormal and ectatic lymphatic vessels within and around the kidneys. Dilated lymphatics may result in peripelvic cysts (intrarenal lymphangiectasia) and perinephric fluid collections (extrarenal lymphangiectasia), which can be visualized using US, CT, and MRI. Proper diagnosis on imaging helps in planning a conservative management approach to this benign condition, which requires intervention for only significant symptoms or complications. We describe a 60-year-old man with normal kidney function and bilateral perinephric fluid collections in whom renal lymphangiectasia was diagnosed noninvasively on the basis of characteristic findings on US, CT, and MRI.


Asunto(s)
Líquido Extracelular/metabolismo , Riñón/irrigación sanguínea , Linfangiectasia/complicaciones , Biopsia con Aguja Fina , Líquido Extracelular/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Ultrasonografía
7.
Biomarkers ; 16(1): 31-6, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21091386

RESUMEN

We studied the expression of α1-syntrophin (SNTA1) protein in histologically confirmed esophageal, stomach, lung, colon, rectal and breast cancerous tissue samples. Our results suggest a significant decrease in the expression level of SNTA1 protein in both esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC) compared with their respective controls while a significant increase in expression of SNTA1 protein compared with the normal tissue was observed in breast carcinoma samples. No significant difference in expression of SNTA1 protein was observed in stomach, lung, colon and rectal cancers. Our results suggest that SNTA1 has a role in carcinogenesis and could possibly be used as a novel diagnostic or prognostic marker in esophageal and breast cancers.


Asunto(s)
Proteínas de Unión al Calcio/metabolismo , Proteínas de la Membrana/metabolismo , Proteínas Musculares/metabolismo , Neoplasias/metabolismo , Adenocarcinoma/metabolismo , Adulto , Biomarcadores/metabolismo , Neoplasias de la Mama/metabolismo , Carcinoma de Células Escamosas/metabolismo , Regulación hacia Abajo , Neoplasias Esofágicas/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Regulación hacia Arriba
8.
Abdom Imaging ; 36(4): 433-7, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21181157

RESUMEN

Rupture of a hydatid cyst into the biliary tract, also known as cystobiliary communication, is the most common complication of hepatic hydatid cyst. This may lead to obstructive jaundice, pancreatitis, cholangitis, and sepsis with high mortality. Imaging plays an important role in the preoperative diagnosis of this condition which facilitates its management. We studied six patients with rupture of hepatic hydatid cyst into a large bile duct in whom multidetector-row CT (MDCT) suggested the diagnosis. The imaging findings included a single hepatic cyst less than 10 cm in diameter in all the cases; interruption of the cyst wall adjacent to a bile duct signifying cyst-bile duct communication was seen in five patients. The common bile duct was dilated in all the patients, with linear membranes in four and diffuse irregular high dense intrabiliary material observed within the common bile duct in two of them. Intrahepatic ducts were dilated in all the six cases and two patients showed linear dense contents within distended gallbladder. Subcapsular and intrathoracic rupture was associated in one patient each. MDCT demonstration of hydatid cyst in the liver together with a dilated common bile duct and distended gallbladder containing high density hydatid material suggest rupture of the cyst into biliary tree. MDCT enhances demonstration of the dilated common bile duct with hydatid material inside. The diagnosis is reinforced by the demonstration of the cystobiliary communication itself.


Asunto(s)
Conductos Biliares/parasitología , Equinococosis Hepática/complicaciones , Equinococosis Hepática/diagnóstico por imagen , Anciano , Niño , Colangiopancreatografia Retrógrada Endoscópica , Medios de Contraste , Diagnóstico Diferencial , Equinococosis Hepática/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Rotura Espontánea/complicaciones , Rotura Espontánea/diagnóstico por imagen , Rotura Espontánea/cirugía
9.
Biol Reprod ; 82(2): 373-9, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19812298

RESUMEN

In this study, we demonstrate the use of somatic cell nuclear transfer to produce the first cloned camelid, a dromedary camel (Camelus dromedarius) belonging to the family Camelidae. Donor karyoplasts were obtained from adult skin fibroblasts, cumulus cells, or fetal fibroblasts, and in vivo-matured oocytes, obtained from preovulatory follicles of superstimulated female camels by transvaginal ultrasound guided ovum pick-up, were used as cytoplasts. Reconstructed embryos were cultured in vitro for 7 days up to the hatching/hatched blastocyst stage before they were transferred to synchronized recipients on Day 6 after ovulation. Pregnancies were achieved from the embryos reconstructed from all cell types, and a healthy calf, named Injaz, was born from the pregnancy by an embryo reconstructed with cumulus cells. Genotype analyses, using 25 dromedary camel microsatellite markers, confirmed that the cloned calf was derived from the donor cell line and the ovarian tissue. In conclusion, the present study reports, for the first time, establishment of pregnancies and birth of the first cloned camelid, a dromedary camel (C. dromedarius), by use of somatic cell nuclear transfer. This has opened doors for the amelioration and preservation of genetically valuable animals like high milk producers, racing champions, and males of high genetic merit in camelids. We also demonstrated, for the first time, that adult and fetal fibroblasts can be cultured, expanded, and frozen without losing their ability to support the development of nuclear transfer embryos, a technology that may potentially be used to modify fibroblast genome by homologous recombination so as to generate genetically altered cloned animals.


Asunto(s)
Camelus , Clonación de Organismos/veterinaria , Técnicas de Transferencia Nuclear/veterinaria , Animales , Blastocisto/fisiología , Camelus/embriología , Camelus/genética , Clonación de Organismos/métodos , Técnicas de Cultivo de Embriones/veterinaria , Transferencia de Embrión/veterinaria , Desarrollo Embrionario , Femenino , Fibroblastos/ultraestructura , Genotipo , Nacimiento Vivo/veterinaria , Masculino , Oocitos/crecimiento & desarrollo , Oocitos/ultraestructura , Folículo Ovárico/ultraestructura , Inducción de la Ovulación/métodos , Embarazo , Recolección de Tejidos y Órganos/métodos , Recolección de Tejidos y Órganos/veterinaria
10.
Cell Commun Signal ; 8: 13, 2010 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-20565814

RESUMEN

Members of Shc (src homology and collagen homology) family, p46shc, p52shc, p66shc have known to be related to cell proliferation and carcinogenesis. Whereas p46shc and p52shc drive the reaction forward, the role of p66shc in cancers remains to be understood clearly. Hence, their expression in cancers needs to be evaluated carefully so that Shc analysis may provide prognostic information in the development of carcinogenesis. In the present study, the expression of p66shc and its associate targets namely Eps8 (epidermal pathway substrate 8), Rac1 (ras-related C3 botulinum toxin substrate1) and Grb2 (growth factor receptor bound protein 2) were examined in fresh tissue specimens from patients with esophageal squamous cell carcinoma and esophageal adenocarcinoma using western blot analysis. A thorough analysis of both esophageal squamous cell carcinoma and adenocarcinoma showed p66shc expression to be significantly higher in both types of carcinomas as compared to the controls. The controls of adenocarcinoma show a higher basal expression level of p66shc as compared to the controls of squamous cell carcinoma. The expression level of downstream targets of p66shc i.e., eps8 and rac1 was also found to be consistently higher in human esophageal carcinomas, and hence correlated positively with p66shc expression. However the expression of grb2 was found to be equal in both esophageal squamous cell carcinoma and adenocarcinoma. The above results suggest that the pathway operated by p66shc in cancers does not involve the participation of Ras and Grb2 as downstream targets instead it operates the pathway involving Eps8 and Rac1 proteins. From the results it is also suggestive that p66shc may have a role in the regulation of esophageal carcinomas and represents a possible mechanism of signaling for the development of squamous cell carcinoma and adenocarcinoma of esophagus.

11.
J Reprod Med ; 55(3-4): 166-70, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20506681

RESUMEN

BACKGROUND: Arteriovenous malformations (AVMs) of the uterus are extremely rare and occur either in congenital or acquired form. The most common clinical presentation is abnormal uterine bleeding, which may be aggravated by therapeutic curettage. CASE: A case of uterine AVM diagnosed by means of multislice computed tomography (CT). The 37-year-old woman was admitted to the emergency department complaining of hypermenorrhea that had been occurring for the last 5 years. She had undergone multiple currettages for incomplete abortions in the past. Transabdominal ultrasonography demonstrated thickening of the wall of the uterine corpus with numerous cystic lesions. Dynamic CT and CT angiography were useful for detecting and characterizing the pathology in this case. Numerous anomalous blood vessels communicating with the right and left uterine arteries were found in the wall of the uterus and in the parametrium. Uterine and ovarian arteries were enlarged, with early filling of veins on CT angiography. Whole extent of the vascular abnormality was very well depicted by the CT images and CT angiography. The diagnosis of uterine AVMs was thus made noninvasively. CONCLUSION: This noninvasive technique elegantly demonstrates the uterine AVMs and should be performed to diagnose and to determine the true extent of the malformation, particularly when Doppler ultrasound is inconclusive.


Asunto(s)
Malformaciones Arteriovenosas/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Arteria Uterina/anomalías , Arteria Uterina/diagnóstico por imagen , Adulto , Femenino , Humanos , Menorragia/etiología
12.
Anim Reprod Sci ; 209: 106132, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31514928

RESUMEN

In the present study, there was comparison of pregnancy rates with transfer of in vivo-produced embryos using multiple ovulation and embryo transfer (MOET) with in vitro-produced embryos by somatic cell nuclear transfer (SCNT) in dromedary camels. In vivo-produced embryos were collected from donors after super-stimulation of follicular development on day 7 after ovulation, while in vitro-derived embryos were produced using SCNT from in vivo-matured oocytes collected from camels after follicular development super-stimulation. As a result of estrous synchronization, all recipient camels for both groups were 1 day earlier in stage of estrous cycle than developmental status of embryos at the time of transfer. The animals into which embryos were transferred were monitored at 7-day intervals after embryo transfer for signs of pregnancy based on response to presence of a male and there was ultrasonic confirmation on days 35 and 60 subsequent to day of estrus in recipient animals. A greater proportion of recipients (P < 0.05) were considered pregnant based on response to male presence when there was transfer of MOET-(76.8 ± 3.2) compared with SCNT- (26.4 ± 2.4) derived embryos on day 14. There was no difference in pregnancy losses in subsequent weeks until day 60 between groups. There were also no differences in calving rates of females in which MOET- (91.7%) and SCNT- (93.3%) derived embryos were transferred. These results indicate pregnancies at day 60 with SCNT-derived embryos are sustained for the remainder of gestation periods similar to when there was transfer of MOET-derived embryos in dromedary camels.


Asunto(s)
Camelus , Transferencia de Embrión , Técnicas de Transferencia Nuclear , Inducción de la Ovulación , Índice de Embarazo , Animales , Células Cultivadas , Clonación de Organismos/métodos , Clonación de Organismos/veterinaria , Técnicas de Cultivo de Embriones/métodos , Técnicas de Cultivo de Embriones/veterinaria , Transferencia de Embrión/métodos , Transferencia de Embrión/veterinaria , Desarrollo Embrionario/fisiología , Femenino , Fertilización In Vitro/métodos , Fertilización In Vitro/veterinaria , Masculino , Técnicas de Transferencia Nuclear/veterinaria , Inducción de la Ovulación/métodos , Inducción de la Ovulación/veterinaria , Embarazo
14.
Theriogenology ; 106: 186-191, 2018 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-29078197

RESUMEN

Experiments were conducted to evaluate the effect of source, treatment and type of nuclear donor cells on embryonic and fetal development of somatic cell nuclear-transfer reconstructs in dromedary camel. In experiment 1, actively growing, serum starved or confluent skin fibroblast cells were used as nuclear donors. In experiment 2, skin fibroblasts from 4 different animals while in experiment 3, skin fibroblasts and cumulus cells from the same animal were used as nuclear donors. In all the three experiments, mature oocytes collected by transvaginal ovum pick up were used as recipient cytoplasts. All the blastocysts obtained were transferred to synchronized recipients on Day 5-6 after ovulation. In experiment 1, pregnancies were achieved from the embryos reconstructed with all the groups of cells, however, only 1 full term calf was delivered from the embryos reconstructed with serum-starved cells. In experiment 2, significant differences were observed in embryo development and establishment of pregnancies among the donor cell lines from different animals. Five cloned calves were delivered from the embryos reconstructed with skin fibroblast cells of 3 animals, while the sole pregnancy from fourth animal aborted on Day 224 of gestation. Three full term calves were delivered from pregnancies achieved by the embryos reconstructed with cumulus cells in experiment 3, while a single pregnancy achieved from skin fibroblast cells was lost on Day 296 of gestation. In conclusion, we observed that cell donor, cell type and their treatment affect the outcome of cloning by somatic cell nuclear transfer in camels.


Asunto(s)
Camelus/embriología , Clonación de Organismos , Técnicas de Transferencia Nuclear/veterinaria , Animales , Blastocisto , Camelus/fisiología , Transferencia de Embrión/veterinaria , Desarrollo Embrionario , Femenino , Embarazo , Recolección de Tejidos y Órganos
15.
Theriogenology ; 113: 44-49, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29454297

RESUMEN

Experiments were conducted to investigate the development of in vitro matured camel oocytes after their intra-cytoplasmic sperm injection (ICSI) with epididymal sperm collected from slaughtered male camels. Ovaries and testes were collected from a local slaughterhouse in normal saline solution (NSS) at 37 °C and on ice (0-1 °C), respectively. Cumulus-oocyte complexes (COCs) aspirated from the follicles were randomly distributed to 4-well culture plates (20-25 COCs/well) containing 500 µL of maturation medium and cultured at 38.5 °C in an atmosphere of 5% CO2 in air for about 30 h. Spermatozoa were collected from the cauda epididymites in syringes containing 2-3 mL of tris-tes egg yolk extender. They were cooled down slowly and stored at refrigeration (4 °C) temperature. On the day of use, spermatozoa were prepared by the swim up technique before use in ICSI. The injected oocytes were either activated by ionomycin and roscovitine or put into the culture without any chemical activation. In Experiment 1, presumptive zygotes were fixed and stained with Hoechst 33342 for evaluation of fertilization after 18 h of culture, while, in Experiment 2, they were cultured in 500 µL of the culture medium at 38.5 °C in an atmosphere of 5% CO2, 5% O2 and 90% N2 in air for 7 days to evaluate their development. The proportion of oocytes activated when ICSI was followed by chemical activation was significantly higher (P < 0.05) when compared with non-activated ones. In experiment 2, a higher number of oocytes cleaved (59 vs. 35%) and developed to blastocysts (20 vs. 7%) in the group with post-ICSI activation when compared with the group without chemical activation, respectively. In conclusion, to the best of our knowledge, this is the first report where embryos were produced by ICSI in camels. Chemical activation of oocytes by ionomycin and roscovitine, post -ICSI, enhanced their cleavage and development to blastocyst stage.


Asunto(s)
Camelus , Técnicas de Maduración In Vitro de los Oocitos/veterinaria , Oocitos/fisiología , Inyecciones de Esperma Intracitoplasmáticas/veterinaria , Espermatozoides/fisiología , Animales , Técnicas de Cultivo de Embriones , Masculino
16.
Theriogenology ; 118: 137-143, 2018 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-29906663

RESUMEN

Studies were conducted to evaluate the adequate time for exposure of donor nucleus to oocyte cytoplast before its activation and the effect of oocyte source on the development of SCNT embryos in camels. A higher number of embryos cleaved and developed to blastocyst stage (P < 0.05) when couplets were activated between 1 and 2 h-than that of those activated at 0.5 h or more than 2 h post-fusion. A reduced number of reconstructed embryos cleaved (55.2 ±â€¯7.6%) and developed to the blastocyst stage (20.5 ±â€¯5.5%) when in vitro matured oocytes collected from the slaughterhouse were used as donor cytoplasts, compared to in vitro (71.3 ±â€¯1.3 and 36.7 ±â€¯7.3%) or in vivo matured (91.7 ±â€¯8.3 and 35.4 ±â€¯6.0%) oocytes obtained from live animals (P < 0.05), respectively. However, no differences were observed between the different types of oocyte sources on the establishment of pregnancies and delivery of offspring's. In conclusion, couplets activated 1-2 h post-fusion had higher in vitro developmental potential and oocytes collected from live animals were better in supporting the cleavage and blastocyst production in vitro than oocytes collected from slaughterhouse ovaries, however, all sources of oocytes can be utilized as donor cytoplasts and have the potential to support development of full-term calves after transfer into synchronized recipients.


Asunto(s)
Citoplasma/fisiología , Técnicas de Cultivo de Embriones/veterinaria , Transferencia de Embrión/veterinaria , Desarrollo Embrionario/fisiología , Técnicas de Transferencia Nuclear/veterinaria , Oocitos/ultraestructura , Animales , Blastocisto/fisiología , Camelus/fisiología , Fase de Segmentación del Huevo/fisiología , Clonación de Organismos/métodos , Clonación de Organismos/veterinaria , Técnicas de Cultivo de Embriones/métodos , Femenino , Fibroblastos/ultraestructura , Técnicas de Maduración In Vitro de los Oocitos , Oocitos/crecimiento & desarrollo , Embarazo , Donantes de Tejidos
17.
J Ophthalmic Vis Res ; 12(1): 106-109, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28299013

RESUMEN

PURPOSE: To highlight the role of constructive interference steady state (CISS) magnetic resonance imaging (MRI) in the diagnosis of Tolosa-Hunt Syndrome (THS). CASE REPORT: We describe a case of THS in a 55-year-old woman presenting with left painful opthalmoplegia that was diagnosed by CISS MRI. Patient responded to steroid treatment and the lesion resolved. CONCLUSION: Imaging with MRI can help in making the diagnosis of THS by demonstrating an enhancing soft tissue lesion in the cavernous sinus and orbital apex resolving with steroids. CISS MRI is a sensitive sequence for diagnosis and follow-up imaging in THS.

18.
Indian J Radiol Imaging ; 26(1): 131-4, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27081237

RESUMEN

Isovaleric acidemia (IVA) is an inborn error of branched chain amino acid metabolism that may manifest as acute neonatal metabolic acidosis or as chronic intermittent form with developmental delay or recurrent episodes of acute metabolic acidosis. Early diagnosis is the key to prevent morbidity and mortality. Brain imaging abnormalities are rarely described in IVA. We report a case of chronic intermittent IVA with acute presentation in a 4-month-old infant who presented with acute metabolic acidosis. Brain magnetic resonance imaging (MRI) revealed symmetric signal intensity changes in bilateral lentiform nuclei with an unreported T1-weighted (T1W) symmetric hyperintense ring-like appearance in bilateral putamen.

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