Enfermedad peroxisomal, condrodisplasia rizomelica punctata tipo 1: reporte de caso / Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report

Introducción: Las enfermedades peroxisomales son un grupo de trastornos monogénicos que incluyen desórdenes en la biogénesis del peroxisoma o deficiencias enzimáticas. La Condrodisplasia Rizomélica Punctata Tipo 1 (RCDP1) pertenece al primer grupo, es autosómica recesiva originada por mutaciones del gen PEX7, que codifica para el receptor PTS2. El objetivo del presente artículo son describir una enfermedad genética de baja prevalencia, explicando sus principales características y la importancia de la aproximación diagnóstica y asesoría genética. Caso clínico: Lactante masculino de 13 meses, sin antecedentes familiares ni consanguinidad. Al nacimiento presentaba acortamiento de miembros superiores. Fue intervenido a los 7 meses por catarata bilateral. Presentaba severo retardo del crecimiento, retraso del desarrollo psicomotor, anomalías menores craneofaciales, acortamiento rizomélico de miembros superiores y en menor grado de miembros inferiores. En la radiografía se identificaban calcificaciones punteadas del cartílago en rótula. Entre los exámenes de laboratorio destacaba elevación de los ácidos grasos fitánico y pristánico. El paciente falleció a la edad de 3 años. Discusión: Esta es una enfermedad rara, la prevalencia es 1/100.000, se han descrito diferentes mutaciones del gen PEX7 teniendo variación en el fenotipo. El tratamiento es básicamente sintomático y depende de la gravedad de las manifestaciones clínicas, el tipo rizomélico es de mal pronóstico, la mayoría de los pacientes no sobrevive antes de la primera década de vida. La asesoría genética es fundamental ya que se considera un riesgo del 25% de recurrencia.

Introduction: Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. Case report: 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening. Surgery intervention at seven months old for bilateral cataract. Growth retardation, psychomotor retardation, minor craniofacial anomalies, rhyzomelic shortened upper limbs and lower limbs lesser degree. Punctata calcifications in patella cartilage. Also fatty acid phytanic and pristanic increased levels. Patient dead at age of 3 years. Discussion: RCDP1 is a rare disease, with a prevalence of 1/100,000. Different mutations of PEX7 gene have been described, with variations in phenotype. The treatment is basically symptomatic and depends on the severity of clinical manifestations. The rhizomelic type has poor prognosis, most patients do not survive before the first decade of live. Genetic counseling is essential because it is consider a 25% risk of recurrence.

Surgical features of Trevor's disease of the patella

The aim of this study was to describe surgical features of resection of hemimelic epiphyseal dysplasia of the patella. We already described the clinical and imaging features in another article. The patient was a six-year-old boy with a tumor in his right knee measuring 12 cm longitudinally and 6 cm transversally, which was adhering to the patella and had been slowly growing for two years. Biopsy findings were suggestive of a benign osteochondromatous lesion, without a defined diagnosis. Imaging examinations such as radiography and tomography showed areas of bone formation and radiotransparent areas, while magnetic resonance imaging showed areas of hypo and hypersignal in T1 and T2, of estimated size 8.5 cm longitudinally and 6 cm transversally. The tumor growth was surgically resected and curettage was performed on the epiphyseal nucleus of ossification of the upper and medial centers of the patella, with good patellar remodeling and normal development. The patient did not present any recurrence of the lesion up to the time of reaching skeletal maturity...

Descrever aspectos cirúrgicos da ressecção de displasia epifisária hemimélica da patela. Os aspectos clínicos e de imagem já foram descritos em outro artigo. Paciente masculino, seis anos, com tumor de crescimento lento em joelho direito, por dois anos, com dimensões de 12 cm no eixo longitudinal e 6 cm no transversal, aderido à patela. Biópsia sugeriu lesão osteocondromatosa benigna, sem diagnóstico definido. Exames de imagem, como radiografias e tomografias, com áreas de formação óssea e áreas radiotransparentes e na ressonância magnética áreas de hipo e hiperssinal em T1 e T2, de tamanho estimado em 8,5 cm no eixo longitudinal e 6 cm no transversal. Foram feitas ressecção cirúrgica da tumoração e curetagem do núcleo de ossificação epifisário do polo superior e medial da patela, com boa remodelação patelar e desenvolvimento normal. Paciente não apresentou recidiva da lesão até o término da maturidade esquelética...

Displasia epifisária hemimélica (doença de Trevor-Fairbank): relato de caso / Dysplasia epiphysealis hemimelica (Trevor-Fairbank disease): case report

Dysplasia epiphysealis hemimelica is a rare benign disease (incidence 1:1,000,000), characterized by an osteochondral overgrowth affecting one or more epiphyses. Generally, the age of onset is between two and 14 years. The characteristic imaging findings are sufficient for the diagnosis. Surgical excision of the lesion is only indicated in cases where a functional limitation is present.

A displasia epifisária hemimélica é uma doença benigna rara (incidência de 1:1.000.000), caracterizada por um crescimento osteocondral decorrente de uma ou mais epífises. Em geral a idade de início é entre 2 e 14 anos. Os achados característicos dos exames de imagem são suficientes para o diagnóstico. A excisão cirúrgica da lesão só é indicada caso haja limitação funcional.

Traqueobroncopatia osteocondroplástica: relato de 2 casos e revisão bibliográfica / Osteochondroplastic tracheobronchopathy: report on 02 cases and bibliographic review

A traqueobroncopatia osteocondroplásica (TO) é uma doença benigna rara, de causa desconhecida, caracterizada por numerosos nódulos submucosos sésseis, cartilaginosos e/ou ósseos, distribuídos pelas paredes ântero-laterais, projetando-se no lúmen laringotraqueobrônquico. Existem aproximadamente 400 casos relatados na literatura mundial. OBJETIVOS: Relatar e discutir 2 casos de TO com a revisão bibliográfica. MATERIAL E MÉTODO: Apresentação de 2 casos, com revisão bibliográfica realizada através dos bancos de dados do MEDLINE, LILACS, PUBMED. DESENHO DO ESTUDO: Estudo observacional, descritivo, relato de casos. CONCLUSÃO: Os sintomas são resultados de obstrução da via aérea, causando tosse seca, dispneia e infecções recorrentes do trato respiratório. A suspeita diagnóstica é feita pela endoscopia de vias aéreas (laringotraqueobroncoscopia), sendo a tomografia computadorizada do tórax/traqueia útil para documentar as características de lesões nodulares. O diagnóstico diferencial inclui a papilomatose, amiloidose e sarcoidose endobronquial, condrossarcoma, hamartoma e linfonodos paratraqueais calcificados. Não existe tratamento específico, porém o prognóstico é bom. A remoção cirúrgica é restrita aos quadros obstrutivos moderados e severos. Os otorrinolaringologistas devem estar atentos e incluírem a traqueobroncopatia osteocondroplástica na lista de diagnósticos diferenciais, quando frente aos sintomas sugestivos de doenças da via aérea superior e árvore traqueobrônquica.

Osteochondroplastic tracheobronchopathy (OT) is a rare benign disorder of the lower part of the trachea and the upper part of the main bronchus characterized by numerous submucosal calcified nodules, sessile, cartilaginous and/or osseous with laryngotracheobronchial lumen projection. There are less than 400 cases reported in the word literature. AIM: to report and discuss 02 cases of OT with a bibliography review. MATERIALS AND METHODS: we report on 02 cases with bibliography revision from MEDLINE, LILACS and PUBMED data. STUDY DESIGN: observational, descriptive, case reports. CONCLUSION: the symptoms result from airway obstruction, causing dry cough, dyspnea and recurrent respiratory tract infections. The diagnostic hypothesis is established by endoscopy of the upper airway (laryngo-tracheo-bronchoscopy), and the trachea/chest computed tomography is the best image exam to define tracheal nodule alterations. The differential diagnoses are papillomatosis, amyloidosis and sarcoidosis chondrosarcoma hamartoma and calcified paratracheal lymph nodes. There is no specific treatment and the prognosis is good. Surgery is restricted to moderate or severe airway obstructions. Otorhinolaryngologists must include OT in the differential diagnosis of cases of upper airway and tracheobronchial tree suggestive symptoms.

Osteochondrodysplasia in three Scottish Fold cats

This report explains typical radiographic features ofScottish Fold osteochondrodysplasia. Three Scottish Foldcats suffering from lameness were referred to theVeterinary Medical Teaching Hospital, Seoul NationalUniversity, Korea. Based on the breed predisposition,history, clinical signs, physical examination, and radiographicfindings, Scottish Fold osteochondrodysplasia was confirmedin three cases. Radiographic changes mainly includedexostosis and secondary arthritis around affected jointlesions, and defective conformation in the phalanges andcaudal vertebrae. The oral chondroprotective agents suchas glucosamine and chondroitin sulfate make the patientsalleviate their pain without adverse effects.

Imaging of Melorheostosis: Emphasis on MR Imaging Findings

PURPOSE: To evaluate the usefulness of various radiographic imaging modalities in the diagnosis and characterization of melorheostosis. MATERIALS AND METHODS: We retrospectively evaluated the plain film (n=8), computed tomographic (CT) imaging (n=5) and magnetic resonance (MR) imaging (n=5) findings of eight patients with melorheostosis diagnosed by bone biopsy (n=4) and characteristic radiographic findings (n=8). MR images were obtained with a 1.5-T scanner focused on the region of maximal radiographic abnormality. Pulse sequences include T1-weighted SE, T2-weighted fast SE (n=5) and postcontrast imaging (n=4). In order to define subtle enhancement of the lesions, subtraction MR images were obtained in one case. Imaging findings were analyzed with particular emphasis on the distribution of lesions along the sclerotome, differential radiographic findings between diaphyseal and metaepiphyseal lesions of the long bones, as seen on plain radiographs, and the density and signal characteristics of hyperostotic, lesions, as seen on CT and MR images. RESULTS: Characteristic distribution along the sclerotome was identified in five of eight cases mainly along C6 and 7 (n=2) and L3, 4 and 5 (n=3) sclerotomes. In diaphyseal melorherostosis (8/8), a characteristic finding, i.e., a wax flowing down from the candle, was identified on plain radiographs. In all three patients with metaepiphyseal melorheostosis (3/8), multiple round or oval hyperostotic lesions were seen in the epiphysis and metaphysis of the long bones. On CT, the marrow cavity was partly obliterated by hyperostotic lesions in all five patients with endosteal hyperostosis. Among these, central ground glass opacity with a sclerotic rim was seen in three patients. Periosteal hyperostosis was seen in two of five cases, being visualized as irregular excrescences in the periosteal region and surrounding soft tissue. Individual hyperostosis was visualized as hypointense on T1-weighted images and as a hyperintense center with a surrounding hypointense rim on T2-weighted images (5/5). On postcontrast images, central enhancement was noted in all four cases. In one of these, in which the degree of central enhancement was subtle, subtraction images (postcontrast SE- precontrast SE) also revealed a central signal increment. Central enhancement corresponded to the hyperintense center seen on T2-weighted images (4/4) and the ground-glass opacity seen on CT (2/2). CONCLUSION: Radiographic imaging plays a crucial role in the diagnosis of melorheostosis. The future role of gadolinium-enhanced MR imaging in the characterization of the lesion may be important though further evaluation and pathologic correlation is required.

Osteochondrodysplasia Pathologic study of 29 autopsy cases

Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).