Pub Date : 2020-06-26DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.20440
S. Álvares
{"title":"Cardiovascular care in cancer patients","authors":"S. Álvares","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.20440","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.20440","url":null,"abstract":"","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"18 1","pages":"75-77"},"PeriodicalIF":0.0,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83715078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-06-26DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.17896
M. Marques, Joana Gouveia, Inês Cunha, E. Gomes
Anaphylaxis is defined as an acute severe, life-threatening hypersensitivity reaction. The condition’s real prevalence and incidence are difficult to estimate, but seem to be increasing, particularly in children. Anaphylaxis clinical presentation varies according to age and other individual factors. Although consensual clinical criteria exist, including in pediatric age, diagnosis can be challenging. Food allergy is the most common anaphylaxis cause in children, particularly in preschool age. Drug-induced reactions and hymenoptera venom sting are other major triggers, which importance increases after adolescence. Management involves diagnosis, appropriate identification of possible triggers, acute phase treatment, and long-term planning. Prompt referral to a Pediatric Allergy specialist is recommended, as complete allergy workup is usually required to implement future preventive measures. In this review, the authors discuss particular aspects regarding anaphylaxis in pediatric age to provide information that can help improve disease management.
{"title":"Anafilaxia em idade pediátrica: uma visão global","authors":"M. Marques, Joana Gouveia, Inês Cunha, E. Gomes","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.17896","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.17896","url":null,"abstract":"Anaphylaxis is defined as an acute severe, life-threatening hypersensitivity reaction. The condition’s real prevalence and incidence are difficult to estimate, but seem to be increasing, particularly in children. Anaphylaxis clinical presentation varies according to age and other individual factors. Although consensual clinical criteria exist, including in pediatric age, diagnosis can be challenging. Food allergy is the most common anaphylaxis cause in children, particularly in preschool age. Drug-induced reactions and hymenoptera venom sting are other major triggers, which importance increases after adolescence. Management involves diagnosis, appropriate identification of possible triggers, acute phase treatment, and long-term planning. Prompt referral to a Pediatric Allergy specialist is recommended, as complete allergy workup is usually required to implement future preventive measures. In this review, the authors discuss particular aspects regarding anaphylaxis in pediatric age to provide information that can help improve disease management.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"29 1","pages":"92-100"},"PeriodicalIF":0.0,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47453544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-06-26DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.15607
Margarida Silva Fonseca, Clara Vieira, R. Chorão, A. Bandeira, Inês Carrilho
Psychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky hair disease diagnosis. The typical electroclinical evolution in this syndrome has rarely been previously reported.A 22-month-old boy, born at 35 weeks, was admitted to the hospital by the age of two months due to epileptic seizures. Physical examination revealed dysmorphic facial features, pectus excavatum, and inguinal hernias. Antiepileptic drugs were initiated and one month later the patient was readmitted with recurrent epileptic seizures. Transfer to a hospital with Pediatric Neurology support was required, where light-toned and pleated skin, sparse hair, failure to thrive, and axial hypotonia were remarked. Initial investigation with general metabolic, neuroimaging, ophthalmological, and microarray study revealed no changes. Electroencephalograms were markedly abnormal, initially with focal changes and later with hypsarrhythmia. Considering the patient’s phenotype, copper serum level was analysed, with null value. Molecular study confirmed Menkes kinky hair disease and copper histidine therapy was initiated. Menkes kinky hair disease should be considered in infants with global developmental delay, severe hypotonia, refractory epilepsy, and typical hair and skin changes occurring early in life. However, neonatal diagnosis is hampered by age-unspecific signs and symptoms. Despite being a rare and fatal entity, timely diagnosis allowing early therapy institution and avoiding unnecessary additional tests and prompt genetic counseling are of utmost importance.
{"title":"Uma causa muito rara de espasmos infantis","authors":"Margarida Silva Fonseca, Clara Vieira, R. Chorão, A. Bandeira, Inês Carrilho","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.15607","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.15607","url":null,"abstract":"Psychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky hair disease diagnosis. The typical electroclinical evolution in this syndrome has rarely been previously reported.A 22-month-old boy, born at 35 weeks, was admitted to the hospital by the age of two months due to epileptic seizures. Physical examination revealed dysmorphic facial features, pectus excavatum, and inguinal hernias. Antiepileptic drugs were initiated and one month later the patient was readmitted with recurrent epileptic seizures. Transfer to a hospital with Pediatric Neurology support was required, where light-toned and pleated skin, sparse hair, failure to thrive, and axial hypotonia were remarked. Initial investigation with general metabolic, neuroimaging, ophthalmological, and microarray study revealed no changes. Electroencephalograms were markedly abnormal, initially with focal changes and later with hypsarrhythmia. Considering the patient’s phenotype, copper serum level was analysed, with null value. Molecular study confirmed Menkes kinky hair disease and copper histidine therapy was initiated. Menkes kinky hair disease should be considered in infants with global developmental delay, severe hypotonia, refractory epilepsy, and typical hair and skin changes occurring early in life. However, neonatal diagnosis is hampered by age-unspecific signs and symptoms. Despite being a rare and fatal entity, timely diagnosis allowing early therapy institution and avoiding unnecessary additional tests and prompt genetic counseling are of utmost importance.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"29 1","pages":"108-112"},"PeriodicalIF":0.0,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47976412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-06-26DOI: 10.25753/BIRTHGROWTHMJ.V29.I1.15113
FI Ferreira, S. Costa, C. Pereira, Brígida Robalo, Lurdes Sampaio
McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and cafe au lait (CAL) skin spots. Herein is presented the case of a girl with pubarche, acne, and transient thelarche since the age of three and menarche since the age of six years old. Besides transitory follicular cysts and advanced bone age, no other changes were found. Diagnosis was only established after brain magnetic resonance imaging showed fibrous dysplasia involving left craniofacial bones. The girl’s parents later mentioned that she had multiple cafe au lait skin spots on the scalp since birth, disclosing how the key diagnostic sign had been covered by the child’s hair. MAS is a rare disorder and diagnosis depends on a high index of suspicion. CAL skin spots are generally the first manifestation, but can easily go unnoticed. Additionally, PFD may only affect some bones, like craniofacial.
{"title":"Hidden by the hair - a precocious puberty case report","authors":"FI Ferreira, S. Costa, C. Pereira, Brígida Robalo, Lurdes Sampaio","doi":"10.25753/BIRTHGROWTHMJ.V29.I1.15113","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I1.15113","url":null,"abstract":"McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and cafe au lait (CAL) skin spots. Herein is presented the case of a girl with pubarche, acne, and transient thelarche since the age of three and menarche since the age of six years old. Besides transitory follicular cysts and advanced bone age, no other changes were found. Diagnosis was only established after brain magnetic resonance imaging showed fibrous dysplasia involving left craniofacial bones. The girl’s parents later mentioned that she had multiple cafe au lait skin spots on the scalp since birth, disclosing how the key diagnostic sign had been covered by the child’s hair. MAS is a rare disorder and diagnosis depends on a high index of suspicion. CAL skin spots are generally the first manifestation, but can easily go unnoticed. Additionally, PFD may only affect some bones, like craniofacial.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"25 1","pages":"126-128"},"PeriodicalIF":0.0,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89232632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-06-26DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.15184
A. Miranda, M. Ezequiel, C. Luís, J. Dupont, Paulo Gaspar, L. Vilarinho, P. Janeiro, A. Gaspar
Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected.The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings.This report enhances the relevance of multidisciplinary approach and follow-up.
{"title":"Coarse face, hypotonia, and neurodevelopmental regression","authors":"A. Miranda, M. Ezequiel, C. Luís, J. Dupont, Paulo Gaspar, L. Vilarinho, P. Janeiro, A. Gaspar","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.15184","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.15184","url":null,"abstract":"Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected.The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings.This report enhances the relevance of multidisciplinary approach and follow-up.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"29 1","pages":"117-120"},"PeriodicalIF":0.0,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49478001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-06-15DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.15028
A. Mendes, S. Braga, C. Vilarinho, M. A. Costa, C. Ferreira, T. Simão
Introduction: Behcet's syndrome is a systemic vasculitis characterized by recurrent oral and/or genital ulcers, and several systemic manifestations. The authors describe the case of a pediatric-onset Behcet's syndrome. Case report: An 11-year-old boy was referred to the Pediatric consultation after two episodes of great saphenous vein thrombophlebitis. He had experienced daily oral aphthae for the past three years, and various episodes of folliculitis with pustule formation. Laboratory study was normal. The boy showed no signs of uveitis. The diagnosis of Behcet's syndrome diagnosis was established according to the international criteria, with positive HLA- B51 testing. Colchicine was initiated, with favourable response. Conclusions: Due to clinical feature overlap with other conditions, Behcet's syndrome diagnosis remains challenging. Consensus pediatric classification criteria developed in 2016 enabled greater sensitivity and earlier diagnosis.
{"title":"Behçet’s syndrome in pediatric age","authors":"A. Mendes, S. Braga, C. Vilarinho, M. A. Costa, C. Ferreira, T. Simão","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.15028","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.15028","url":null,"abstract":"Introduction: Behcet's syndrome is a systemic vasculitis characterized by recurrent oral and/or genital ulcers, and several systemic manifestations. The authors describe the case of a pediatric-onset Behcet's syndrome. Case report: An 11-year-old boy was referred to the Pediatric consultation after two episodes of great saphenous vein thrombophlebitis. He had experienced daily oral aphthae for the past three years, and various episodes of folliculitis with pustule formation. Laboratory study was normal. The boy showed no signs of uveitis. The diagnosis of Behcet's syndrome diagnosis was established according to the international criteria, with positive HLA- B51 testing. Colchicine was initiated, with favourable response. Conclusions: Due to clinical feature overlap with other conditions, Behcet's syndrome diagnosis remains challenging. Consensus pediatric classification criteria developed in 2016 enabled greater sensitivity and earlier diagnosis.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"10 1","pages":"121-125"},"PeriodicalIF":0.0,"publicationDate":"2020-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85641032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-06-01DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.18631
A. Costa, Sandra Mendes, Ana Sofia Rodrigues Pires, Sara Melo, Sandra Borges, J. Jorge, Graça Mendes
{"title":"Crescer nas sombras do suicídio","authors":"A. Costa, Sandra Mendes, Ana Sofia Rodrigues Pires, Sara Melo, Sandra Borges, J. Jorge, Graça Mendes","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.18631","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.18631","url":null,"abstract":"","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"29 1","pages":"101-107"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43965123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-06-01DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.16660
M. Cascais, Rui Passadouro, Odete Mendes, M. M. Zarcos
Introduction: Child sexual abuse (CSA) is a global public health problem across different culture and socioeconomic strata. Teachers have a privileged role in prevention programs and the approach is feasible and effective in preschoolers. The aim of this study was to characterize preschool teachers’ knowledge, attitudes, and training about CSA prevention. Methods: A non-experimental, exploratory, cross-sectional study was conducted in Leiria, Portugal, comprising 47 preschool teachers. Data was retrieved through a questionnaire developed by study authors. Results: Most preschool teachers had no CSA prevention training. About half of inquired teachers considered their knowledge about CSA prevention as reasonable. However, 12.8% classified it as poor, mainly teachers with less practice years (50% vs 69.6% of teachers with ≥30 practice years who classified their knowledge as reasonable, p=0.03). Most participants agreed that CSA prevention should be part of preschool curriculum, particularly older teachers (92% vs 77%, p=0.03). Most respondents considered adjusting these concepts to preschoolers challenging for implementation of prevention programs, 72.4% considered that some topics were not suitable for discussion with preschool children, and 82.9% considered that their approach was not well accepted by parents or caregivers. Discussion: Study results evidenced several difficulties and limited training of preschool teachers in CSA prevention. Encouragingly, most teachers showed a positive attitude towards participating in CSA training education and including this topic in preschool curriculum. This study emphasizes the importance of teachers’ education in this subject through implementation of training programs.
{"title":"Prevention of sexual abuse in preschoolers - teachers knowledge and attitudes","authors":"M. Cascais, Rui Passadouro, Odete Mendes, M. M. Zarcos","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.16660","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.16660","url":null,"abstract":"Introduction: Child sexual abuse (CSA) is a global public health problem across different culture and socioeconomic strata. Teachers have a privileged role in prevention programs and the approach is feasible and effective in preschoolers. The aim of this study was to characterize preschool teachers’ knowledge, attitudes, and training about CSA prevention. Methods: A non-experimental, exploratory, cross-sectional study was conducted in Leiria, Portugal, comprising 47 preschool teachers. Data was retrieved through a questionnaire developed by study authors. Results: Most preschool teachers had no CSA prevention training. About half of inquired teachers considered their knowledge about CSA prevention as reasonable. However, 12.8% classified it as poor, mainly teachers with less practice years (50% vs 69.6% of teachers with ≥30 practice years who classified their knowledge as reasonable, p=0.03). Most participants agreed that CSA prevention should be part of preschool curriculum, particularly older teachers (92% vs 77%, p=0.03). Most respondents considered adjusting these concepts to preschoolers challenging for implementation of prevention programs, 72.4% considered that some topics were not suitable for discussion with preschool children, and 82.9% considered that their approach was not well accepted by parents or caregivers. Discussion: Study results evidenced several difficulties and limited training of preschool teachers in CSA prevention. Encouragingly, most teachers showed a positive attitude towards participating in CSA training education and including this topic in preschool curriculum. This study emphasizes the importance of teachers’ education in this subject through implementation of training programs.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"29 1","pages":"86-91"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48517716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-24DOI: 10.25753/BIRTHGROWTHMJ.V29.I1.15336
J. Costa, M. Coutinho, T. Soares, C. Sousa
The main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system. Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases. The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan.
{"title":"Bilateral congenital semicircular canal malformation and hearing loss - case report","authors":"J. Costa, M. Coutinho, T. Soares, C. Sousa","doi":"10.25753/BIRTHGROWTHMJ.V29.I1.15336","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I1.15336","url":null,"abstract":"The main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system. Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases. The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"36 1","pages":"36-42"},"PeriodicalIF":0.0,"publicationDate":"2020-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90748037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-24DOI: 10.25753/BIRTHGROWTHMJ.V29.I1.18021
Ana Batista, Catarina Valpaços, P. Sousa, T. Costa, C. Mota, A. Réis, M. Faria
Here in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study.VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.
{"title":"Imaging clinical case","authors":"Ana Batista, Catarina Valpaços, P. Sousa, T. Costa, C. Mota, A. Réis, M. Faria","doi":"10.25753/BIRTHGROWTHMJ.V29.I1.18021","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I1.18021","url":null,"abstract":"Here in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study.VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"26 1","pages":"62-64"},"PeriodicalIF":0.0,"publicationDate":"2020-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86175197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：