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1.
Childs Nerv Syst ; 38(9): 1825-1828, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35652934

RESUMO

Optic pathway gliomas are the most common central nervous system neoplasms in patients with neurofibromatosis type 1. Perineural arachnoidal gliomatosis is a rare and distinctive growth pattern of optic nerve glioma, in which the tumor infiltrates through the pia mater and pre-dominantly involves the subarachnoid space around the optic nerve. Here, we report an 8-year-old girl with perineural arachnoidal gliomatosis associated with neurofibromatosis type 1.


Assuntos
Neurofibromatose 1 , Glioma do Nervo Óptico , Aracnoide-Máter/patologia , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 1/patologia , Nervo Óptico/patologia , Glioma do Nervo Óptico/complicações
2.
J Paediatr Child Health ; 58(1): 129-135, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34343373

RESUMO

AIM: Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection may result in a life-threatening hyperinflammatory condition named multisystem inflammatory syndrome in children (MIS-C). We aimed to assess demographics, clinical presentations, laboratory characteristics and treatment outcomes of patients with MIS-C. METHODS: We performed a retrospective study of patients with MIS-C managed between August 2020 and March 2021 at Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital in Turkey. RESULTS: A total of 45 patients (23 male, 51%) with a median age of 8.7 years (interquartile range: 5.6-11.7 years) were enrolled to study. The SARS-CoV-2 serology was positive in 43 (95%) patients. Organ-system involvement included the dermatologic in 41 (91%), cardiovascular in 39 (87%), hematologic in 36 (80%) and gastrointestinal in 36 (80%) patients. Acute anterior uveitis was diagnosed in nine (20%) patients. Two patients presented with clinical findings of deep neck infection such as fever, neck pain, trismus, swelling and induration on the cervical lymph node. One patient presented with Henoch-Schonlein purpura-like eruption. Coronary artery dilatation was detected in five (11%) patients. For treatment of MIS-C, intravenous immunoglobulin was used in 44 (98%) patients, methylprednisolone in 27 (60%) and anakinra in 9 (20%) patients. The median duration of hospitalisation was nine days. All patients recovered. CONCLUSIONS: Children with MIS-C might have variable clinical presentations. Acute anterior uveitis might be a prominent presentation of MIS-C and require ophthalmological examination. It is essential to make patient-based decisions and apply a stepwise approach for the treatment of this life-threatening disease.


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , COVID-19/complicações , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pandemias , Gravidez , Estudos Retrospectivos , SARS-CoV-2 , Síndrome de Resposta Inflamatória Sistêmica , Turquia/epidemiologia
3.
Turk J Med Sci ; 52(2): 405-412, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36161629

RESUMO

BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a rare clinicoradiological syndrome that typically presents with central nervous system symptoms such as loss of consciousness, seizure, headache, and ophthalmoparesis. METHODS: Here, we highlight the characteristics of this syndrome together with the clinical and MRI findings of 6 pediatric patients with MERS. RESULTS: Between January 2017 and October 2020, 6 patients with MERS (3 boys and 3 girls) presented to our center. The mean age was 122 ± 54.6 (min-max: 44-180) months. None of the patients had a chronic disease. In our study, infectious agents were detected in 4 patients (66.6%), while noninfectious causes (one seizure and the other hyponatremia) were detected in two patients. All of our cases were discharged without any sequelae after an average of 12.1 ± 7 (min-max: 4-20) days of hospitalization. In 1 patient (case 6), control MRI could not be performed, and the radiological recovery of our other patients was shown to be between 14 days and 2 months. DISCUSSION: MERS is an acute encephalopathy with good prognosis and should be considered by neurologists in differential diagnosis due to its variable clinical presentation and specific MRI findings.


Assuntos
Encefalopatias , Encefalite , Encefalopatias/complicações , Encefalopatias/etiologia , Criança , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Encefalite/diagnóstico , Encefalite/etiologia , Encefalite/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Convulsões , Síndrome
4.
Turk J Med Sci ; 50(4): 1048-1061, 2020 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-32011835

RESUMO

Background/aim: Mucopolysaccharidoses (MPS) are a group of hereditary metabolic diseases. The aim of this study was to share the previously unreported calvarial finding of internal hypertrophy of the occipitomastoid sutures (IHOMS) together with some other well-known cranial MRI findings in this patient series. Materials and methods: A retrospective evaluation was conducted of 80 cranial MRIs of patients who had been diagnosed and followed up with MPS from 2008 to 2019 in our center. Of these patients, 11 had Hurler, 14 had Hunter, 24 had Sanfilippo, 15 had Morquio, 14 had Maroteaux­Lamy, and 2 had Sly disease. The cranial MRIs were assessed in two main groups as parenchymal intradural cranial MRI findings and extradural calvarial findings. Results: The most common parenchymal intradural cranial MRI findings were white matter signal alterations (n = 51, 63%) and perivascular space enlargements (n = 39, 48%). The most common extradural calvarial findings were J-shaped sella (n = 45, 56%) and tympanic effusion (n = 44, 55%). Although IHOMS was defined in a relatively small number of the patients (n = 12, 15%), the prevalence rate was high in MPS type I (n = 6, 54%). Conclusion: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging.


Assuntos
Suturas Cranianas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Mucopolissacaridoses/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Suturas Cranianas/patologia , Feminino , Humanos , Hipertrofia , Lactente , Masculino , Mucopolissacaridoses/patologia , Estudos Retrospectivos , Adulto Jovem
6.
Metab Brain Dis ; 33(5): 1775-1778, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29961243

RESUMO

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.


Assuntos
Arginase/genética , Hiperargininemia/complicações , Falência Hepática/etiologia , Estado Epiléptico/etiologia , Encéfalo/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Hiperargininemia/diagnóstico por imagem , Hiperargininemia/genética , Falência Hepática/diagnóstico por imagem , Falência Hepática/genética , Imageamento por Ressonância Magnética , Estado Epiléptico/diagnóstico por imagem , Estado Epiléptico/genética
8.
J Ultrasound Med ; 37(6): 1335-1344, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29034490

RESUMO

OBJECTIVES: Umbilical venous catheterization is commonly used in the neonatal period; however, it has some complications. In this study, we evaluated neonates who underwent umbilical venous catheterization and developed hepatic complications. Furthermore, we aimed to define all of the possible lesions and to clarify the imaging findings of umbilical venous catheter-induced hepatic injury. METHODS: Two hundred forty-four neonates who underwent umbilical venous catheterization between March 2013 and September 2015 in a single tertiary care referral center were included in this study. To determine whether they had any hepatic complications, all patients underwent abdominal grayscale and Doppler ultrasound examinations, and their clinical data were recorded. RESULTS: The frequency of liver-related complications from umbilical venous catheterization was 33.6% (82 of 244). Air in the portal venous system was the most frequent complication (20.1% [49 of 244]). Left portal venous thrombosis was noted in 6.1% (15 of 244). Parenchymal lesions in the liver related to umbilical venous catheterization were seen in 7.4% of patients (18 of 244) as follows: single nodular echogenic lesions (4.1% [10 of 244]), branching small nodular echogenic lesions (2.1% [5 of 244]), and large irregular heterogeneous lesions with laceration and perihepatic fluid (1.2% [3 of 244]). There was no statistical significance for any type of complication according to the gestational age (P > .05). CONCLUSIONS: Hepatic complications due to umbilical venous catheters are not uncommon in the neonatal period. Ultrasound is the best imaging modality for confirming the diagnosis and for follow-up.


Assuntos
Cateterismo Periférico/efeitos adversos , Hepatopatias/diagnóstico por imagem , Hepatopatias/etiologia , Ultrassonografia/métodos , Veias Umbilicais , Dispositivos de Acesso Vascular/efeitos adversos , Cateterismo Periférico/instrumentação , Feminino , Humanos , Recém-Nascido , Fígado/diagnóstico por imagem , Masculino , Estudos Prospectivos
9.
Can Assoc Radiol J ; 68(2): 122-130, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27932266

RESUMO

The pterygopalatine fossa is an important anatomic crossroads that is connected with numerous intra- and extracranial spaces via foramina and fissures. Although this fossa is small, its central location in the skull base and its communications provide clinical, radiological, and anatomical significance. In this pictorial review, we aimed to describe the radiologic anatomy of the pterygopalatine fossa, as well as to give some pathologic examples to better understand this major conduit.


Assuntos
Imageamento por Ressonância Magnética , Fossa Pterigopalatina/anatomia & histologia , Fossa Pterigopalatina/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Criança , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade
10.
Pol J Radiol ; 82: 320-321, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28685004

RESUMO

BACKGROUND: Absent ductus venosus (ADV) is a rare condition, but it should be known that this embryonic anomaly may be detected by fetal echocardiographic or newborn ultrasound examinations. CASE REPORT: We present a baby with an ADV and an accompanying alternative porto-caval shunt between the right portal vein and inferior vena cava detected on postnatal ultrasound examination. CONCLUSIONS: Variations in the fetal umbilical or porto-systemic circulations should be detected by fetal or newborn ultrasound examinations and kept in mind before common interventions such as UV catheterizations.

11.
Skeletal Radiol ; 43(11): 1651-4, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25037730

RESUMO

We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry rhizomelic dysplasia. The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri. The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides. The younger sister has normal hip joint bones bilaterally, but her proximal femoral epiphyses are smaller than normal. All other bones of the sisters are of normal size and configuration. Our patients are two siblings, and their parents are first degree relatives, suggesting autosomal-recessive (AR) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Coxa Vara/diagnóstico por imagem , Fêmur/anormalidades , Deformidades Congênitas da Mão/diagnóstico por imagem , Úmero/anormalidades , Úmero/diagnóstico por imagem , Pelve/anormalidades , Irmãos , Coluna Vertebral/anormalidades , Pré-Escolar , Feminino , Fêmur/diagnóstico por imagem , Humanos , Pelve/diagnóstico por imagem , Radiografia , Coluna Vertebral/diagnóstico por imagem
12.
Curr Med Imaging ; 2023 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-37066779

RESUMO

BACKGROUND: Schwannomas arise from nerve sheaths of cranial, peripheral, and spinal nerve or nerve roots. Most intracranial schwannomas arise from the cranial nerves, predominantly the vestibulocochlear nerve. In addition to cranial nerve schwannomas, intraparenchymal schwannomas of the brain and intramedullary schwannomas of the spinal cord are extremely rare. CASE REPORT: In this case report, we describe the imaging findings of three diverse cases of schwannoma at different locations and unique presentations with acute neurological symptoms in the pediatric age group. CONCLUSION: Schwannomas should be considered and included in the differential diagnosis of intracranial or intraspinal intramedullary space-occupying lesions in pediatric patients.

13.
Clin Case Rep ; 10(7): e6022, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35898740

RESUMO

Acute post-streptococcal glomerulonephritis (APSGN) and polyarteritis nodosa (PAN) may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a Mediterranean fever (MEFV) mutation. The homozygous M694V mutation in the MEFV gene may cause an augmented response to the streptococcal infection that plays a role in the development of both clinical manifestations.

14.
J Coll Physicians Surg Pak ; 32(12): SS221-SS226, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36597345

RESUMO

Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolipids, and glycosylphosphatidylinositol anchor synthesis. Steroid 5α-reductase 3 (SRD5A3)-CDG is a CDG type I with a clinical spectrum of neurological, ophthalmological, dermatological and hepatic symptoms. Although CDGs are not directly related to malignancies, it is well known that some genes that are involved in glycosylation pathways are involved in various cancers. Aberrant glycosylation has been closely linked to the development and progression of brain cancer. We report a patient with SRD5A3-CDG carrying a novel homozygous splice variant and brain neoplasm. Also, a review of the literature is made regarding the multisystem effects of the disease. Key Words: SRD5A3-CDG, Glioma, Glycosylation, Transferrin isoelectric focusing, Congenital disorders of glycosylation.


Assuntos
Neoplasias Encefálicas , Defeitos Congênitos da Glicosilação , Humanos , Mutação , Defeitos Congênitos da Glicosilação/diagnóstico , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/metabolismo , Glicoproteínas , Oxirredutases/genética , Neoplasias Encefálicas/genética , Proteínas de Membrana/genética , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética
15.
Br J Radiol ; 95(1129): 20210570, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-34889647

RESUMO

OBJECTIVE: Multisystem inflammatory syndrome in children (MIS-C) is seen as a serious delayed complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The aim of this study was to describe the most common imaging features of MIS-C associated with SARS-CoV-2. METHODS: A retrospective review was made of the medical records and radiological imaging studies of 47 children (26 male, 21 female) in the age range of 25 months-15 years who were diagnosed with MIS-C between August 2020 and March 2021. Chest radiographs were available for all 47 patients, thorax ultrasound for 6, chest CT for 4, abdominal ultrasound for 42, abdomen CT for 9, neck ultrasound for 4, neck CT for 2, brain CT for 1, and brain MRI for 3. RESULTS: The most common finding on chest radiographs was perihilar-peribronchial thickening (46%). The most common findings on abdominal ultrasonography were mesenteric inflammation (42%), and hepatosplenomegaly (38%, 28%). Lymphadenopathy was determined in four patients who underwent neck ultrasound, one of whom had deep neck infection on CT. One patient had restricted diffusion and T2 hyperintensity involving the corpus callosum splenium on brain MRI, and one patient had epididymitis related with MIS-C. CONCLUSION: Pulmonary manifestations are uncommon in MIS-C. In the abdominal imaging, mesenteric inflammation, hepatosplenomegaly, periportal edema, ascites and bowel wall thickening are the most common findings. ADVANCES IN KNOWLEDGE: The imaging findings of MIS-C are non-specific and can mimic many other pathologies. Radiologists should be aware that these findings may indicate the correct diagnosis of MIS-C.


Assuntos
COVID-19/complicações , Síndrome de Resposta Inflamatória Sistêmica/diagnóstico por imagem , Adolescente , Encéfalo/diagnóstico por imagem , COVID-19/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pescoço/diagnóstico por imagem , Neuroimagem , Radiografia Abdominal , Radiografia Torácica , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Ultrassonografia
16.
Beyoglu Eye J ; 5(1): 17-21, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-35098056

RESUMO

OBJECTIVES: The aim of this study was to assess initial changes in blood flow parameters of the ophthalmic artery (OA) in pediatric patients with type 1 diabetes mellitus (DM). METHODS: Sixty-three subjects were included in this prospective, cross-sectional, observational study. Thirty-one (49.2%) patients with type 1 DM without diabetic retinopathy formed the DM group. The control group comprised 32 (50.8%) healthy subjects. The OA of all of the patients was examined with Doppler ultrasonography. The main outcomes were peak systolic velocity (PSV), end diastolic velocity (EDV), pulsatility index (PI), and resistivity index (RI) measurements. RESULTS: The mean age at onset of type 1 DM was 10.7±2.0 years and the mean duration was 11.4±11.0 months. The mean PSV and EDV outcomes in both eyes were significantly higher in the control group than in the DM group, whereas, the mean PI and RI outcomes in both eyes were significantly higher in the DM group (p<0.05). A mean RI of ≥0.75 indicated vascular hemodynamic changes associated with type 1 DM with a sensitivity of 72% and a specificity of 65% (area under the curve: 0.702; p=0.007). A mean PI of ≥1.69 predicted vascular hemodynamic changes associated with type 1 DM with a sensitivity of 79% and a specificity of 71% (area under the curve: 0.742; p=0.001). CONCLUSION: The results of this study revealed that disturbances in ocular hemodynamics might be present as early as the first year after a type 1 DM diagnosis. Changes in ocular hemodynamic parameters could be used to predict or screen for the development of vascular changes.

17.
Turk J Pediatr ; 62(6): 1088-1093, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33372449

RESUMO

BACKGROUND: Preterm ovarian hyperstimulation syndrome (POHS) is an uncommon disorder characterized by prematurity, hypogastric and upper leg swelling, high serum estradiol and gonadotropin levels, and ovarian cysts. Immaturity of the gonadal axis is accepted as the cause. But still, other etiological factors are suspected. CASE: A preterm baby who was born at 24 gestational weeks was referred to our clinic for ambiguous genitalia on day 118 of life. Labia majora and clitoris was edematous. Clitoris length was 1.5 cm. On laboratory evaluation: 17OH-Progesterone: 1.84 ng/ml, dehydroepiandrosterone sulphate (DHEA-S): 139 µg/dl, total testosterone (T.T): 88 ng/dl, luteinizing hormone (LH): 22.5 mIU/l, Follicle stimulating hormone (FSH): 15.7 mIU/l, estradiol (E2): 447 pg/ml. Karyotype analysis was 46, XX. There was a 25x14x12 mm ovarian cyst detected on ultrasound. On follow-up, E2 levels and cyst size increased, and there was 4 mm pericardial effusion on echocardiography at the time. CONCLUSION: In this paper, we present a case with POHS and to discuss possible pathophysiological mechanisms and treatment. This is the first case of POHS developing pericardial effusion.


Assuntos
Síndrome de Hiperestimulação Ovariana , Clitóris , Estradiol , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Síndrome de Hiperestimulação Ovariana/diagnóstico , Indução da Ovulação
19.
Arch Rheumatol ; 33(1): 93-98, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29900995

RESUMO

Mucolipidoses are metabolic disorders with autosomal recessive inheritance caused by deficiency of N-acetylglucosamine- 1-phosphotransferase leading to accumulation of glycosaminoglycans and sphingolipids intracellularly. The differential diagnosis of mucolipidosis II or III is based on the age of onset, clinical findings and degree of severity. In this article, we present four pediatric patients with mucolipidosis III or pseudo-Hurler polydystrophy who admitted to our hospital with joint stiffness. They were from consanguineous families with characteristic radiographic findings. The joints were painless and the rheumatologic evaluation and inflammation markers were negative. Mucolipidosis is a rare disease in pediatric patients to remember in differential diagnosis of joint stiffness.

20.
Brain Dev ; 39(3): 211-217, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27843044

RESUMO

BACKGROUND: Central tegmental tract is an extrapyramidal tract between red nucleus and inferior olivary nucleus which is located in the tegmentum pontis bilaterally and symmetrically. The etiology of the presence of central tegmental tract hyperintensity on MRI is unclear. PURPOSE: In this study our aim is to evaluate the frequency of central tegmental tract lesions in patients with cerebral palsy and control group, as well as to determine whether there is an association between central tegmental tract lesions and cerebral palsy types. MATERIALS AND METHODS: Clinical and MRI data of 200 patients with cerebral palsy in study group (87 female, 113 male; mean age, 5.81years; range, 0-16years) and 258 patients in control group (114 female, 144 male; mean age, 6.28years; range, 0-16years) were independently evaluated by two reader for presence of central tegmental tract hyperintensity and other associated abnormalities. RESULTS: Central tegmental tract hyperintensities on T2WI were detected in 19% of the study group (38/200) and 3.5% of the control group (9/258) (p<0.0001). Among the total of 38 central tegmental tract lesions in study group, the frequency of central tegmental tract hyperintensity was 16% (24/150) in spastic cerebral palsy and 35% (14/40) in dyskinetic cerebral palsy (p=0.0131). CONCLUSION: The prevalence of central tegmental tract hyperintensity is higher in patients with cerebral palsy particularly in dyskinetic type. We suggest that there is an increased association of the tegmental lesions with dyskinetic CP. Patients with cerebral palsy and ischemic changes were more likely to have central tegmental tract lesions. According to our results we advocate that an ischemic process may have a role in the etiopathogenesis.


Assuntos
Paralisia Cerebral/epidemiologia , Paralisia Cerebral/fisiopatologia , Imageamento por Ressonância Magnética , Adolescente , Distribuição por Idade , Paralisia Cerebral/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Mesencéfalo/patologia , Mesencéfalo/fisiopatologia , Prevalência , Tálamo/patologia , Tálamo/fisiopatologia
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