RESUMO
A 3-year-old girl underwent a surgery at an external center on July 2011 for a swelling in the left lumbar paravertebral subcutaneous region. The mass was completely excised and the pathologic diagnosis was a yolk sac tumor (YST). Laboratory tests revealed a serum α-fetoprotein level of 278 IU/mL. Investigations using bone scintigraphy and magnetic resonance imaging revealed a scar tissue at the surgical site and lesions indicating metastasis at the lumbar first, second, third, and fifth vertebra. The patient was administered 5 cycles of PEB (cisplatin, etoposide, bleomycin) treatment. The serum α-fetoprotein was 3 IU/mL after the treatment. The lumbar magnetic resonance imaging and bone scintigraphy results were normal. The patient continues to be in remission since June 2012. YSTs are most commonly seen in the testis, ovary, and sacrococcygeal regions. Atypical locations have been reported with the primary lesion in the stomach, diaphragm, omentum, sino-nasal region, cranial base, lungs, vagina, and penis. Our case is probably a YST with an atypical location derived from preliminary cells left under the skin because of a migration defect.
Assuntos
Tumor do Seio Endodérmico/patologia , Músculos Paraespinais/patologia , Neoplasias de Tecidos Moles/patologia , Pré-Escolar , Feminino , Humanos , Região LombossacralRESUMO
Leukemoid reaction, defined as a total leukocyte count of >50,000/mm, is most commonly related to antenatal administration of steroids, infections, and transient myeloproliferative disorder of Down syndrome in newborns. Atypical presentations of viral infections can be a diagnostic challenge in the newborn period. Cytomegalovirus (CMV) infection causes a multisystem disease, and symptomatic infants generally present with intrauterine growth restriction, hepatosplenomegaly, cholestasis, rash, thrombocytopenia, and microcephaly. We present a case of a preterm infant with severe myeloid leukemoid reaction (leukocyte count >100,000/mm) at birth who was diagnosed with congenital CMV infection on the basis of CMV polymerase chain reaction results after the appearance of cholestasis, blueberry muffin rash, and hepatosplenomegaly.
Assuntos
Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/diagnóstico , Reação Leucemoide/diagnóstico , DNA Viral/genética , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Contagem de Leucócitos , Masculino , Reação em Cadeia da Polimerase , PrognósticoRESUMO
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The genetic basis of CHI includes a variety of defects in key genes regulating insulin secretion. Mutations in at least seven genes are found in 50% of cases. The most common forms of medically unresponsive CHI, which requires a near-total pancreatectomy are associated with autosomal recessive mutations in the ABCC8 and KCNJ11 genes encoding the two subunits of the pancreatic ß-cell ATP-sensitive potassium channel. We report a neonate with CHI and have a novel homozygous splicing mutation in the ABCC8 gene.
Assuntos
Hiperinsulinismo Congênito/genética , Receptores de Sulfonilureias/genética , Hiperinsulinismo Congênito/complicações , Hiperinsulinismo Congênito/cirurgia , Feminino , Genes Recessivos , Homozigoto , Humanos , Hipoglicemia/etiologia , Lactente , Recém-Nascido , Mutação , Pâncreas/patologia , PancreatectomiaAssuntos
Intestinos/anormalidades , Mutação de Sentido Incorreto , Proteínas/genética , Imunodeficiência Combinada Severa/genética , Substituição de Aminoácidos , Linfócitos B/imunologia , Consanguinidade , Análise Mutacional de DNA , Feminino , Homozigoto , Humanos , Recém-Nascido , Atresia Intestinal/genética , Masculino , Linhagem , Proteínas/imunologia , Deleção de Sequência , Imunodeficiência Combinada Severa/imunologia , Linfócitos T/imunologiaRESUMO
Thyroid involvement with Langerhans cell histiocytosis (LCH) is very rare. We report here the case of a 15-year-old female patient with LCH affecting the thyroid gland. She was referred to the department of pediatric endocrinology for secondary amenorrhea. Prior to the diagnosis of LCH, the patient had symptoms of diabetes insipidus (DI) and amenorrhea. The mean time from symptom onset to diagnosis was 2 years. On physical examination the patient had grade 2 goiter, and ultrasound showed bilateral multiple hypoechoic nodules and thyroid heterogeneity. Biochemical analysis indicated central diabetes insipidus and panhypopituitarism. Magnetic resonance imaging (MRI) demonstrated a mass lesion involving the hypothalamus, which appeared iso- to hypo-intense on T2-weighted images and had an intense postcontrast enhancement on T1-weighted images. Nodular goiter coinciding with a hypothalamic mass suggested LCH, and an excisional biopsy was performed. Histological evaluation of the thyroid gland revealed extensive involvement by LCH, and this was confirmed by immunohistochemical analysis showing S-100 protein and CD1a positive Langerhans cells that were weakly positive for CD68. LCH should be considered in the differential diagnosis of a diffusely enlarged firm and irregular thyroid gland and posterior or anterior pituitary dysfunction.
Assuntos
Histiocitose de Células de Langerhans/complicações , Doenças da Glândula Tireoide/etiologia , Glândula Tireoide/imunologia , Adolescente , Biópsia , Diabetes Insípido/etiologia , Diabetes Insípido/imunologia , Diabetes Insípido/patologia , Diagnóstico Diferencial , Feminino , Histiocitose de Células de Langerhans/imunologia , Histiocitose de Células de Langerhans/patologia , Humanos , Hipotálamo/patologia , Doenças da Glândula Tireoide/imunologia , Doenças da Glândula Tireoide/patologia , Glândula Tireoide/patologiaRESUMO
Atici A, Yilmaz E, Karaman A, Apaydin S, Afsarlar ÇE. Tuba-ovarian auto-amputation caused by ovarian teratoma in an adolescent girl. Turk J Pediatr 2017; 59: 90-92. Ovarian auto-amputation is an extremely rare condition commonly encountered in the perinatal period. Spontaneous or secondary torsion of the ovary caused by an ovarian lesion may result in infarction and subsequent auto-amputation of the ovary. This paper demonstrates a case that underwent laparoscopic appendectomy with an incidental calcified auto-amputated right ovary. A 16-year-old adolescent girl was admitted to our department with a history of one-day abdominal pain. Physical examination of the patient revealed abdominal tenderness and rigidity on right lower quadrant. Her white blood cell count was 11x103/mL, and C-reactive protein was 69 mg/L. The patient underwent a laparoscopic appendectomy with a provisional diagnosis of acute appendicitis, and further exploration revealed a 2x2 cm white ovoid mass floating freely in the pelvis. The left ovary was clearly identified in its usual localization, but the right tuba was blindly ending without any fimbria or ovary. Postoperative course of the patient was uneventful, and she was discharged on postoperative day 2. The histopathological examination revealed a necrotic calcified ovarian teratoma. Auto-amputated ovary is a rare occasion mostly encountered during perinatal period, and it may be unilateral or bilateral. An auto-amputated ovarian mass may rarely be a teratoma although the most common cause of auto-amputation during perinatal and adolescent period is ovarian torsion due to an ovarian cyst.
Assuntos
Tubas Uterinas/irrigação sanguínea , Neoplasias Ovarianas/complicações , Ovário/irrigação sanguínea , Teratoma/complicações , Adolescente , Amputação Cirúrgica , Feminino , Humanos , LaparoscopiaRESUMO
Neurocysticercosis is a parasitic infection of the central nervous system caused by the larval stage of Taenia solium. Although this zoonotic infection is one of the major public health problems in some developing countries, it is extremely rare in Turkey. In this article, we present the case of a pediatric patient with neurocysticercosis who was misdiagnosed with brain abscess because of focal seizures in another hospital.
Assuntos
Encefalopatias/diagnóstico , Neurocisticercose/diagnóstico , Taenia solium/isolamento & purificação , Animais , Abscesso Encefálico/diagnóstico , Encefalopatias/complicações , Encefalopatias/diagnóstico por imagem , Encefalopatias/cirurgia , Criança , Erros de Diagnóstico , Humanos , Masculino , Neurocisticercose/complicações , Neurocisticercose/diagnóstico por imagem , Neurocisticercose/cirurgia , Convulsões/etiologia , TurquiaRESUMO
Complete androgen insensitivity syndrome (CAIS) disorder of sex development due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy in CAIS is 5-10% until the age of 25 years. A 17-year-old patient raised as a female presented to our clinic complaining of amenorrhea. She had a history of surgery for inguinal hernia at the age of 2 years. The patient's niece of the same age had been diagnosed with CAIS at our department and gonadectomy had been performed six months ago. She had four other nieces with the same diagnosis. Her external genital appeared phenotypically female. On physical examination, breast development was Tanner stage 5 and pubic hair Tanner stage 2 with scarce axillary hair. The gonad was palpated in the left inguinal region. Chromosome analysis revealed 46, XY and sex determining region Y (SRY) was positive. The patient was diagnosed as CAIS with laboratory and radiology results. The Sexual Orientation and Gender Identity Committee decided on gonadectomy. Histopathological evaluation of the gonad revealed bilateral Sertoli cell tumor and right paratesticular leiomyoma.
RESUMO
46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions. She had Tanner stage 1 thelarche, and Tanner stage 2 pubic hair development with no axillary hair development. External genital structure appearance was consistent with female phenotype and the patient had no palpable gonad. The patient diagnosed as 46, XY complete gonadal dysgenesis after evaluation of laboratory analyses, radiological methods and karyotype. The Sexual Orientation and Gender Identity Committee concluded that gonadectomy should be performed. Histopathologic analysis demonstrated gonadoblastoma. Gonad structures should be sought laparoscopically and once diagnosed, streak gonads should be removed prophylactically in patients with 46, XY complete gonadal dysgenesis.
Assuntos
Disgenesia Gonadal 46 XY/complicações , Disgenesia Gonadal/complicações , Gonadoblastoma/complicações , Adolescente , Feminino , Humanos , Cariótipo , Laparoscopia , Imageamento por Ressonância Magnética , Neoplasias Ovarianas/cirurgiaRESUMO
Bart's syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart's syndrome (BS) is diagnosed clinically based on the disorder's unique signs and symptoms but histologic evaluation of the skin can help to confirm the final diagnosis. The patient was managed conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow-up examinations showed complete healing. We emphasized that it is important to use relatively simple methods for optimal healing without the need for complex surgical interventions.
RESUMO
PURPOSE: To evaluate the differential diagnosis of testicular torsion and acute epididymo-orchitis by measuring the acute increase in plasma d-dimer levels in an experimental rat model. METHODS: Thirty male Wistar rats were randomly divided into 5 groups, 1--sham operated group (acute term; 4 hours), 2--early torsion group (acute term; 4 hours), 3--late torsion group (long-term; 72 hours), 4--control of epididymitis group (vehicle injected; 0.1 ml physiologic saline injected into the left ductus deferens) (long term; 72 hours), 5--epididymitis group (0.1 ml Escherichia coli injected into the left ductus deferens), (n=6 for each group). RESULTS: Serum d-dimer levels were significantly higher compared with the sham operated group with early torsion (p=0.002). This elevation remained mildly in the late torsion group compared with the control group (p<0.001), but there was no difference between 4 and 72 hours of the testis torsions (p=0.794). On the other hand, d-dimer levels were significantly higher in the torsion groups compared to the epididymitis group (p=0.042). CONCLUSIONS: The present study demonstrated that testicular damage that occurs following testicular torsion shows a higher increase in d-dimer levels than epididymitis, suggesting that d-dimer level can be used as a diagnostic marker of testicular torsion.
Assuntos
Diagnóstico Precoce , Epididimite/diagnóstico , Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Torção do Cordão Espermático/diagnóstico , Animais , Biomarcadores/sangue , Diagnóstico Diferencial , Modelos Animais de Doenças , Epididimite/sangue , Masculino , Ratos , Ratos Wistar , Torção do Cordão Espermático/sangueRESUMO
Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in CFTR gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G > T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver.
Assuntos
Atresia Biliar/diagnóstico , Colestase/diagnóstico , Códon sem Sentido , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Fígado/patologia , Sequência de Bases , Atresia Biliar/genética , Colestase/genética , Fibrose Cística/genética , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: This paper presents a detailed incidence study on childhood solid tumors comprising a histopathology-based documentation of benign and malignant lesions. METHODS: The Ankara Pediatric Pathology Working Group collected databases of pediatric solid tumors from six pediatric reference centers in order to analyze the incidence, distribution and some epidemiologic characteristics of the tumors and to establish a multicenter database for further studies. A five-year retrospective archive search was carried out. Excluding epithelial tumors of the skin, leukemia, lymphoreticular system neoplasias, metastatic tumors, and hamartomas, 1362 solid tumors in 1358 patients were classified according to age, sex, localization, histopathology and clinical behavior. RESULTS: The male/female ratio was 0.9; 14.8% (201) of the patients belonged to 0-1 year age group, 20.7% (281) to 2-4 years, 25.9% (352) to 5-10 years, 22.2% (301) to 11-14 years, and 16.4% (223) to 15-18 years. Among all tumors, 708 (52.0%) were malignant, 645 (47.4%) benign tumors, 2 (0.1%) borderline tumors, and 2 (0.1%) unknown behavioral tumors. Malignant tumors were found in 50.2% (357) of female patients and in 54.0% (349) of male patients. A balanced distribution between benign and malignant entities among children under 18 years was observed. Comparison between the age groups revealed malignant cases outnumbered benign cases under 4 years of age while benign tumor numbers increased after 10 years of age. The most common entities in the malignant group were of sympathetic nervous system origin, while soft tissue tumors far outnumbered the others in the benign group. CONCLUSIONS: We conclude that the cancer patterns of children in the Ankara region mostly resemble with those of the western population. This study provides useful information on the diagnosis of solid tumors in children and highlights variations in cancer incidence in different age groups.
Assuntos
Neoplasias/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , TurquiaRESUMO
Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by benign intestinal hamartomatous polyps and mucocutaneous pigmentation, and with an increased risk for intestinal and extra-intestinal neoplasms. Sertoli cell tumors in boys with PJS have been increasingly recognized as a cause of prepubertal gynecomastia. However, an association between nephrocalcinosis and PJS has not been reported before. We report on a 7.25-year-old boy with PJS, bilateral gynecomastia, Sertoli cell tumor and nephrocalcinosis, and present the outcome of 1-year treatment with the aromatase inhibitor testolactone. The patient presented with bilateral breast and testis enlargement, and mucocutaneous pigmentation. Testicular ultrasound revealed parenchymal multiple microcalcifications. Histopathological examination was consistent with Sertoli cell tumors. Nephrocalcinosis due to idiopathic renal hypercalciuria was also detected. The aromatase inhibitor testolactone was begun in an attempt to prevent acceleration in skeletal maturation. One-year treatment with testolactone reduced the breast base diameter from 7 to 3 cm, and bone age advanced 1.2 years during this period. Our case demonstrates that waiting for the effect of aromatase inhibitors on gynecomastia before making a decision for mastectomy may be a reasonable option. We also consider that the association between PJS and nephrocalcinosis may be a coincidence.