Radiological patterns of pulmonary fungal infection in pediatric hematology and oncology patients.

Objective: To describe the radiological findings in pediatric patients with hematological or oncological diseases who also have an invasive fungal infection (IFI). Materials and Methods: This was a retrospective study of all patients with IFI admitted to a pediatric hematology and oncology hospital in Brazil between 2008 and 2014. Clinical and demographic data were collected. Chest computed tomography (CT) scans of the patients were reviewed by two independent radiologists. Results: We evaluated the chest CT scans of 40 pediatric patients diagnosed with an IFI. Twenty-seven patients (67.5%) had nodules with the halo sign, seven (17.5%) had cavities, two (5.0%) had nodules without the halo sign, and seven (17.5%) had consolidation. The patients with the halo sign and cavities were older (123 vs. 77 months of age; p = 0.03) and had less severe disease (34% vs. 73%; p = 0.04). Ten patients had a proven IFI: with Aspergillus sp. (n = 4); with Candida sp. (n = 5); or with Fusarium sp. (n = 1). Conclusion: A diagnosis of IFI should be considered in children and adolescents with risk factors and abnormal CT scans, even if the imaging findings are nonspecific.

Objetivo: O objetivo deste estudo é descrever os achados radiológicos de infecções fúngicas invasivas em crianças com doenças onco-hematológicas em um único centro, de acordo com a classificação antiga e a atual de imagens típicas e atípicas. Materiais e Métodos: Foram revisados os prontuários de todos os pacientes com infecção fúngica invasiva que foram internados em um hospital pediátrico de oncologia e hematologia de 2008 a 2014. Foram coletados dados clínicos e demográficos. As tomografias de tórax dos pacientes foram laudadas por dois radiologistas independentes. Resultados: Foram identificados 40 pacientes com infecção fúngica invasiva que realizaram tomografias de tórax. Vinte e sete pacientes apresentaram nódulos com sinal do halo (67,5%), sete tiveram cavitações (17,5%), dois tiveram nódulos sem halo (5,0%) e sete apresentaram consolidações (17,5%). Os pacientes que apresentavam achados de nódulos com sinal do halo e cavitações eram mais velhos (123 versus 77 meses; p = 0,03) e tinham menos sinais de doença grave (34% versus 73%; p = 0,04) do que os outros pacientes. Dez crianças apresentaram infecção confirmada (Aspergillus sp., n = 4; Candida sp., n = 5; Fusarium sp., n = 1). Conclusão: O diagnóstico de infecção fúngica invasiva deve ser considerado em crianças com fatores de risco e tomografias de tórax alteradas, mesmo que os achados das imagens sejam inespecíficos.

Radiological patterns of pulmonary fungal infection in pediatric hematology and oncology patients

Abstract Objective: To describe the radiological findings in pediatric patients with hematological or oncological diseases who also have an invasive fungal infection (IFI). Materials and Methods: This was a retrospective study of all patients with IFI admitted to a pediatric hematology and oncology hospital in Brazil between 2008 and 2014. Clinical and demographic data were collected. Chest computed tomography (CT) scans of the patients were reviewed by two independent radiologists. Results: We evaluated the chest CT scans of 40 pediatric patients diagnosed with an IFI. Twenty-seven patients (67.5%) had nodules with the halo sign, seven (17.5%) had cavities, two (5.0%) had nodules without the halo sign, and seven (17.5%) had consolidation. The patients with the halo sign and cavities were older (123 vs. 77 months of age; p = 0.03) and had less severe disease (34% vs. 73%; p = 0.04). Ten patients had a proven IFI: with Aspergillus sp. (n = 4); with Candida sp. (n = 5); or with Fusarium sp. (n = 1). Conclusion: A diagnosis of IFI should be considered in children and adolescents with risk factors and abnormal CT scans, even if the imaging findings are nonspecific.

Resumo Objetivo: O objetivo deste estudo é descrever os achados radiológicos de infecções fúngicas invasivas em crianças com doenças onco-hematológicas em um único centro, de acordo com a classificação antiga e a atual de imagens típicas e atípicas. Materiais e Métodos: Foram revisados os prontuários de todos os pacientes com infecção fúngica invasiva que foram internados em um hospital pediátrico de oncologia e hematologia de 2008 a 2014. Foram coletados dados clínicos e demográficos. As tomografias de tórax dos pacientes foram laudadas por dois radiologistas independentes. Resultados: Foram identificados 40 pacientes com infecção fúngica invasiva que realizaram tomografias de tórax. Vinte e sete pacientes apresentaram nódulos com sinal do halo (67,5%), sete tiveram cavitações (17,5%), dois tiveram nódulos sem halo (5,0%) e sete apresentaram consolidações (17,5%). Os pacientes que apresentavam achados de nódulos com sinal do halo e cavitações eram mais velhos (123 versus 77 meses; p = 0,03) e tinham menos sinais de doença grave (34% versus 73%; p = 0,04) do que os outros pacientes. Dez crianças apresentaram infecção confirmada (Aspergillus sp., n = 4; Candida sp., n = 5; Fusarium sp., n = 1). Conclusão: O diagnóstico de infecção fúngica invasiva deve ser considerado em crianças com fatores de risco e tomografias de tórax alteradas, mesmo que os achados das imagens sejam inespecíficos.

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

Congenital limb deficiency (CLD), one of the most common congenital anomalies, is characterized by hypoplasia/aplasia of one or more limb bones and can be isolated or syndromic. The etiology in CLD is heterogeneous, including environmental and genetic factors. A fraction remains with no etiological factor identified. We report the study of 44 Brazilian individuals presenting isolated or syndromic CLD, mainly with longitudinal defects. Genetic investigation included particularly next-generation sequencing (NGS) and/or chromosomal microarray. The overall diagnostic yield was 45.7%, ranging from 60.9% in the syndromic to 16.7% in the non-syndromic group. In TAR syndrome, a common variant in 3´UTR of RBM8A, in trans with 1q21.1 microdeletion, was detected, corroborating the importance of this recently reported variant in individuals of African ancestry. NGS established a diagnosis in three individuals in syndromes recently reported or still under delineation (an acrofacial dysostosis, Coats plus and Verheij syndromes), suggesting a broader phenotypic spectrum in these disorders. Although a low rate of molecular detection in non-syndromic forms was observed, it is still possible that variants in non-coding regions and small CNVs, not detected by the techniques applied in this study, could play a role in the etiology of CLD.

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

OBJECTIVE: The present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis in mucolipidosis from a description of the natural history of five Brazilian cases. MATERIALS AND METHODS: We conducted an observational and retrospective study of five patients with clinical and radiological diagnosis of mucolipidosis. Clinical evaluation consisted of information obtained from records and including physical, neurologic, and dysmorphic evaluations. Radiologic studies consisted of complete skeletal radiographs of all patients. Enzyme assessment was performed for confirmation of the diagnosis. RESULTS: The five patients were referred for genetic evaluation due to disproportionate short stature with short trunk accompanied by waddling gait. Age at referral varied from 11 months to 28 years. The most prevalent findings were joint restriction (4/5 patients), neuropsychomotor developmental delay (3/5), coarse facies (2/5), hypertrophic cardiomyopathy (2/5), and mental retardation (1/4 patients). The most common radiological findings were anterior beaking of the vertebral bodies (5/5), shallow acetabular fossae (5/5), epiphyseal dysplasia (5/5), platyspondyly (4/5), pelvic dysplasia (4/5), decreased bone mineralization (4/5), scoliosis (3/5), wide and oar-shaped ribs (3/5), generalized epiphyseal ossification delay (3/5), and hypoplasia of basilar portions of ilea (3/5). Enzyme assessment showed α-iduronidase, α-mannosidase, ß-glucuronidase, hexosaminidase A, and total hexosaminidase increased in plasma and normal glycosaminoglycans concentration. One patient was clinically classified as ML II and four patients as ML III. CONCLUSIONS: The follow-up of five patients showed the typical clinical and radiological findings allowing the diagnosis, thus improving clinical management and providing adequate genetic counseling. Clinicians and radiologists can take advantage of the information from this work, enhancing their differential diagnosis ability.

Natural history of 39 patients with Achondroplasia.

OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G>A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.

Natural history of 39 patients with Achondroplasia

OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G>A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.

Primary hypogammaglobulinemia: The impact of early diagnosis in lung complications.

OBJECTIVE:: To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH). METHOD:: A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level. RESULTS:: We evaluated 30 patients with PH. After the start of IVIG replacement, there was a decline in the frequency of pneumonia (p<0.001). The 11 patients with bronchiectasis in their first CT scan were older at diagnosis (p=0.001) and had greater diagnostic delay (p=0.001) compared to patients without bronchiectasis. At the end of the study, 18 patients had bronchiectasis and 27 also had other lung disorders, alone or in combination. The Bhalla score was applied to the last CT scan of 16 patients, with a median score of 11 (range 7-21), with a positive correlation between the score and the number of pneumonias after the start of treatment (r=0.561; p=0.024). The score was also correlated with forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) values in 13/16 patients, with negative correlation to FEV1 previously to bronchodilator (r=-0.778; p=0.002) and after bronchodilator (r =-0.837; p<0.001) and FVC (r=-0.773; p=0.002). CONCLUSION:: Pulmonary complications were common in this cohort, despite the decrease in the frequency of pneumonia with treatment. Early investigation of patients with recurrent infections for primary immunodeficiencies can reduce the frequency of these complications. The monitoring of changes in spirometry may indicate the need to carry out radiological investigation.

Primary hypogammaglobulinemia: The impact of early diagnosis in lung complications / Hipogamaglobulinemia primária: o impacto do diagnóstico precoce nas complicações pulmonares

Summary Objective: To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH). Method: A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level. Results: We evaluated 30 patients with PH. After the start of IVIG replacement, there was a decline in the frequency of pneumonia (p<0.001). The 11 patients with bronchiectasis in their first CT scan were older at diagnosis (p=0.001) and had greater diagnostic delay (p=0.001) compared to patients without bronchiectasis. At the end of the study, 18 patients had bronchiectasis and 27 also had other lung disorders, alone or in combination. The Bhalla score was applied to the last CT scan of 16 patients, with a median score of 11 (range 7-21), with a positive correlation between the score and the number of pneumonias after the start of treatment (r=0.561; p=0.024). The score was also correlated with forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) values in 13/16 patients, with negative correlation to FEV1 previously to bronchodilator (r=-0.778; p=0.002) and after bronchodilator (r =-0.837; p<0.001) and FVC (r=-0.773; p=0.002). Conclusion: Pulmonary complications were common in this cohort, despite the decrease in the frequency of pneumonia with treatment. Early investigation of patients with recurrent infections for primary immunodeficiencies can reduce the frequency of these complications. The monitoring of changes in spirometry may indicate the need to carry out radiological investigation.

Resumo Objetivo: descrever características clínicas, tomográficas e de função pulmonar em pacientes pediátricos com hipogamaglobulinemia primária (HP). Método: estudo de coorte retrospectivo de crianças com HP que recebiam gamaglobulina endovenosa (GEV) e antibiótico profilático entre 2005 e 2010. As características epidemiológicas, clínicas, os achados de tomografia e espirometria foram comparadas adotando níveis de significância de 5%. Resultados: foram avaliados 30 pacientes com HP. Após o início da reposição de GEV, houve redução da frequência de pneumonias (p<0,001). Os 11 pacientes que apresentavam bronquiectasias na primeira tomografia computadorizada (TC) eram mais velhos ao diagnóstico (p=0,001) e tiveram maior atraso no diagnóstico (p=0,001) quando comparados aos pacientes sem bronquiectasias. Ao final do estudo, 18 pacientes apresentavam bronquiectasias e 27/30 também apresentaram outras alterações pulmonares, isoladas ou concomitantes. O escore de Bhalla foi aplicado à última TC de 16/30 pacientes, com mediana do escore de 11 (variação 7-21), com correlação positiva entre o escore e o número de pneumonias após o início do tratamento (r=0,561; p=0,024). O escore foi ainda correlacionado com valores de volume expiratório forçado no primeiro segundo (VEF1) e capacidade vital forçada (CVF) obtidos por espirometria de 13/16 pacientes, com correlação negativa com VEF1 pré- (r=-0,778; p=0,002) e pós-broncodilatador (r=-0,837; p<0,001) e CVF (r=-0,773; p=0,002). Conclusão: complicações pulmonares foram frequentes nesta coorte, apesar da diminuição na frequência de pneumonias com o tratamento. A investigação precoce de pacientes com infecções de repetição para imunodeficiências primárias pode reduzir a frequência dessas complicações. A monitorização de alterações na espirometria pode indicar a necessidade de investigação radiológica.

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

OBJECTIVE: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. METHOD: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. RESULTS: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient's birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. CONCLUSION: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia / Displasia óculo-aurículo-vertebral: aspectos clínicos de 41 pacientes brasileiros

SUMMARY Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. Results: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient’s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. Conclusion: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

RESUMO Objetivo: descrever os principais achados clínicos de uma coorte de pacientes com a displasia óculo-aurículo-vertebral (OAV). Método: revisão de prontuários médicos dos pacientes com diagnóstico de OAV no período de 1990 a 2010, acompanhados em um centro de genética médica. Resultados: foram incluídos no estudo 41 pacientes. A média de idade ao diagnóstico foi de 2 anos e 10 meses (34,4±48,8 meses) e a proporção de pacientes do sexo feminino foi de 53,7%. A média de idade dos pais ao nascimento do paciente foi de 28,5±6,9 anos para as mães e 31,4±7,4 anos para os pais. A maioria dos indivíduos (97,5%) possuía acometimento auricular, 90,2% tinham manifestações faciais, 65,9%, vertebrais, 53,7%, oculares, 36,6%, cardiovasculares, 29,3%, urogenitais e 17%, no sistema nervoso central. Além disso, 34% dos pacientes apresentavam a tríade clássica óculo-aurículo-vertebral, e todos os pacientes exceto um apresentavam concomitantemente problemas em outros órgãos ou sistemas. Conclusão: já que o diagnóstico desta entidade é eminentemente clínico, é imprescindível que os médicos das mais diversas especialidades conheçam os achados mais frequentes na OAV. Diante de um paciente com suspeita diagnóstica, deve ser realizada avaliação detalhada de outros órgãos, tanto clínica como por meio de exames complementares. O tratamento é baseado na correção cirúrgica das malformações e na reabilitação.

Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study.

Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967. The authors report a case of a Caucasian girl with TD, born to a 31-year-old woman without comorbidities. The newborn presented respiratory distress immediately after delivery, progressing to death in less than 2 hours. An autopsy was carried out after postmortem tomographic examination. The autopsy findings depicted extensive malformations of the skeletal system and the brain. The aim of this report is to discuss the pathogenesis and correlate the morphologic features of TD that were disclosed at the tomography and the autopsy.

Determinação do tamanho do fígado de crianças normais, entre 0 e 7 anos, por ultrassonografia / Sonographic determination of liver size in healthy newborns, infants and children under 7 years of age

OBJETIVO: Determinar o tamanho do fígado de crianças normais, entre 0 e 7 anos de idade, por ultrassonografia, correlacionando os valores obtidos com: idade, sexo, estatura, peso corporal e índice de massa corpórea. MATERIAIS E MÉTODOS: Foram examinadas 584 crianças saudáveis, subdivididas em 11 grupos etários, sendo medidos o diâmetro crânio-caudal do lobo esquerdo, na linha médio-esternal, e o diâmetro crânio-caudal da superfície posterior do lobo direito, na linha hemiclavicular. Na análise estatística foram aplicados: a) coeficiente de correlação de Pearson (estudo de correlação); b) teste t de Student não-pareado (comparação das medidas entre os sexos); c) modelos de regressão não linear (nomogramas). RESULTADOS: O tamanho hepático apresentou aumento progressivo, do nascimento aos 7 anos de idade, proporcionalmente menor que o crescimento corporal, correlacionado com idade, estatura e peso corporal (r > 0,70), não havendo correlação com índice de massa corpórea (r < 0,11). Não se observou diferença consistente das medidas hepáticas em relação ao sexo. CONCLUSÃO: Valores do tamanho do fígado de crianças normais (entre 0 e 7 anos) foram determinados mediante aplicação de técnica padronizada, verificando-se forte correlação com a idade e indicadores antropométricos. Nomogramas demonstram as variações normais do tamanho hepático na população estudada, com crescimento diferenciado para cada lobo.

OBJECTIVE: The present study was aimed at sonographically determining the liver size in healthy newborns, infants and children under 7 years of age, correlating results with age, sex, height, body weight and body mass index. MATERIALS AND METHODS: A total of 584 healthy children subdivided into 11 age groups were evaluated with measurements of the left lobe craniocaudal diameter at the midsternal line, and the craniocaudal diameter of the right lobe posterior surface at the midclavicular line. The following tests were utilized for statistical analysis: a) Pearson's correlation coefficient (correlation study); b) non-paired Student's t-test (comparison of measures between sexes); c) nonlinear regression models (nomograms). RESULTS: The liver size presented a progressive growth from the birth up to the age of 7, proportionally lower than the body growth, in correlation with age, height and body weight (r > 0.70). Correlation with the body mass index was not observed (r < 0.11). There was no significant difference in liver size between male and female individuals. CONCLUSION: Liver size was sonographically determined in healthy children under the age of 7 by means of a standardized method, demonstrating a strong correlation with age and anthropometric indicators. Nomograms demonstrate the typical variations of the liver size in the population evaluated with a different growth pattern for each hepatic lobe.

Caso clínico: síndrome de Kartagener / Kartagener syndrome: case report / La síndrome de Kartagener: relato de caso

Objetivo: descrever um caso da síndrome de Kartagener e alertar os pediatras para o diagnóstico da discinesia ciliar primária. Relato do caso:paciente de 17 anos, sexo feminino, que apresentava desde o primeiro ano de vida, tosse, secreção nasal, otorréia, sibilância e 15 episódios de pneumonia. Os exames de imagem mostraramsinusopatia maxilar bilateral, situs inversus totalis, bronquiectasias nas bases pulmonares, áreas de condensação e bronquiolectasias difusas com aspecto de “árvore em brotamento”. A espirometria mostrou distúrbio obstrutivo leve, sem resposta a broncodilatador. As duas dosagensde cloro no suor e as imunoglobulinas séricas foram normais. O teste de triagem para avaliação do transporte mucociliar (teste da sacarina)teve resultado alterado (40 min), caracterizando a discinesia ciliar. Com base nesse resultado, a presença de situs inversus, bronquiectasias e sinusopatia crônica, foi estabelecido o diagnóstico da síndrome de Kartagener. Conclusão: a suspeita de discinesia ciliar é facilitada quando ocorre o situs inversus, o que caracteriza a síndrome de Kartagener. Porém, deve-se atentar para o fato de que a maioria dos casos de discinesia ciliar não têm essa má formação associada.

Objective: to describe a case of Kartagener syndrome and alert pediatricians for the diagnosis of primary ciliary dyskinesia. Case report:a 17 year-old patient, female, presented since her first year of life cough, nasal secretion, otorrhea, sibilance and 15 episodes of pneumonia. Image exams have shown bilateral maxillary sinusopathy, situs inversus totalis, bronchiectasis at pulmonary bases, condensation areas and diffuse bronchiolectasis with “sprouting tree”aspect. The spirometry shown a light obstructive disorder without response to bronchodilator. Two chlorine exams in the sweat and the seric immunoglobulin were normal. The test to evaluatethe mucociliary transport (saccharin test) had altered result (40 minutes), characterizing the ciliary dyskinesia. Based on this result, and the presence of situs inversus, bronchiectasis and chronic sinusopathy, the diagnosis of Kartagener syndrome was established. Conclusion: the suspicion of ciliary dyskinesia is easier when a situs inversus, is found, which characterizes the Kartagener syndrome. However, it shall be no ticed that most of the ciliary dyskinesia cases does not present this malformation associated.

Objetivo: discrebir un caso síndrome de Kartagener y alertar los pediatras para el diagnostico de discinesia ciliar primaria. Relato del caso: una paciente de 17 años, presentaba desde el primeraño de vida toss, secreción nasal, otorrea, sibilancia em el pecho, con histórico de 15 episodios de neumonia. Los exames auxiliares de imagen mostaran sinusitis maxilar bilateral, situs inversus totalis, bronquiectasias nas bases pulmonares,áreas de condensación y ronquiectasias difusas, com aspecto de arbol en brote. La espirometria mostro distúrbio obstrutivo pequeño sin respuestaa lo broncodilatador. Los niveles de cloro en el suor y de las inmunoglobulinas sericas fuerannormales. Lo testigo de triage para evaluar el transporte mucociliar con sacarina tubo resultado alterado (40 minutos), caracterizando el diagnosticode síndrome de Kartagener. Conclusión: la sospecha de discinesia ciliar es facilitada cuando hay el situs inversus, que es caracteristico de la síndrome de Kartagener. Pero, es necessário atentara que circa de la mitad de los casos de discinesia ciliar non tiene esta ma-formación.

Achados radiológicos em pacientes com mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy) / Radiological findings in patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

OBJETIVO: Sistematizar os achados radiológicos dos pacientes com mucopolissacaridose VI atendidos na Unidade de Genética e no Serviço de Diagnóstico por Imagem do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. MATERIAL E MÉTODO: Cinco pacientes com mucopolissacaridose VI (dois meninos e três meninas) foram incluídos no estudo, e em todos foi realizado estudo radiológico completo. RESULTADOS: A idade variou de oito anos e um mês a 20 anos e cinco meses (idade média de 14 anos e dois meses). Os achados radiológicos observados em todos os pacientes foram: macrocefalia, fechamento precoce das suturas, costelas " em forma de remo", fossa glenóidea hipoplásica, úmero proximal "em forma de machado", teto acetabular hipoplásico e irregular, colo femoral afilado, ossos do carpo pequenos e irregulares. CONCLUSÃO: Os pacientes apresentaram achados radiológicos compatíveis com a doença. O paciente de maior idade, em estágio mais evoluído, apresentou achados mais acentuados, comprovando ser uma doença progressiva. O estudo radiológico é um auxílio para o diagnósltico e evolução clínica.

OBJECTIVE: To systematize the radiological findings in patients diagnosed with mucopolysaccharidosis VI examined at the Genetic Unit and at the Image Diagnostic Service of "Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo". MATERIAL AND METHOD: Five patients with mucopolysaccharidosisVI (two boys and three girls) were included in this study. A complete X-Ray survey was performed in all patient. RESULTS: The patients age rangedfrom 8y1mo to 20y5mo (mean age 14y2mo). The radiological findings observed in all patients were: macrocephaly, premature closure of the sutures, oar shaped ribs, hypoplastic glenoid fossae, hatchet-like aspect of the proximal humerus, irregular and hypoplastic acetabular roofs, thin femoral neck and small and irregular carpal bones. CONCLUCION: The radiographic findings seen on patients were consistent with the disease. Marked findings that confirmed the progression of the disease were seen in the oldest patient with the most advanced stage of the disease. X-ray survey was an important supportive method for the diagnosis and follow-up of clinical progress.