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1.
Arch. endocrinol. metab. (Online) ; 61(6): 633-636, Dec. 2017. graf
Article in English | LILACS | ID: biblio-887602

ABSTRACT

SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS −3.7) and bone age of 6 years. Clonidine and combined pituitary stimulation tests revealed GH deficiency. Pituitary MRI was normal. The patient was successfully treated with rGH. Surprisingly, at 10.8 years, his bone age had advanced to 13 years, but physical exam, LH and testosterone levels remained prepubertal. An ACTH stimulation test disclosed a non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency explaining the bone age advancement and, therefore, treatment with cortisone acetate was added. The genetic diagnosis of a homozygous mutation in GHRHR (p.Leu144His), a homozygous CYP21A2 mutation (p.Val282Leu) and CYP21A1P pseudogene duplication was established by Sanger sequencing, MLPA and whole-exome sequencing. We report the unusual clinical presentation of a patient born to consanguineous parents with two recessive endocrine diseases: non-classic congenital adrenal hyperplasia modifying the classical GH deficiency phenotype. We used a method of paired read mapping aided by neighbouring mis-matches to overcome the challenges of exome-sequencing in the presence of a pseudogene.


Subject(s)
Humans , Male , Infant , Child , Bone Diseases, Developmental/genetics , Steroid 21-Hydroxylase/genetics , Receptors, Neuropeptide/genetics , Adrenal Hyperplasia, Congenital/genetics , Dwarfism, Pituitary/genetics , Pedigree , Phenotype , Bone Diseases, Developmental/etiology , Receptors, Pituitary Hormone-Regulating Hormone/genetics , Adrenal Hyperplasia, Congenital/complications , Consanguinity , Dwarfism, Pituitary/complications , Mutation
2.
Rev. Fac. Med. Univ. Nac. Nordeste ; 34(3): 23-26, 2014. ilus
Article in Spanish | LILACS | ID: lil-773159

ABSTRACT

Clínicamente a los niños que presentan baja talla se los agrupa en dos tipos: los que presentan desproporciones corporales y los que tienen apariencia normal. Entre los primeros se encuentran las displasias esqueléticas, conjunto clínica y genéticamente heterogéneo. La displasia espondiloepifisaria (DEE) es una delas displasias esqueléticas que característicamente presenta acortamiento del tronco y en menor medida de las extremidades; se debe a mutaciones heterocigóticas del gen COL2A1, que codifica el colágeno tipo 2.Se presenta el caso de un niño de 4 años con talla baja y displasia esquelética con características de DEE. La DEE debe diferenciarse de otras displasias óseas. Pueden hallarse estigmas asociados que orienten al diagnóstico a fin de optimizar los exámenes complementarios. El estudio de la mutación, se realiza en los casos en los que se plantean dudas diagnósticas entre varias entidades con rasgos fenotípicos similares...


Summary Clinically children with short stature are grouped in 2: those with alterations in body proportions an those having normal appearance. In the first group are skeletal dysplasias. These terms refer to a clinically and genetically heterogeneous group of disorders of skeletal development and growth. Spondyloepiphyseal dysplasia (SED) is a skeletal dysplasia characteristiccally presenting shortening of the trunk and in a lesser extent, shortening of limbs. It is caused by mutations in COL2A1 gene, encoding the type 2 collagen.A 4 y-o child with short stature and skeletal dysplasia with features of SED is presented. SED must be differentiated from other bone dysplasias. Associated stigmas may guide the likely diagnoses in order to optimize complementary tests. The study of the mutation is performed in cases in which there isdiagnostic doubt among several entities with similar phenotypic traits.


Subject(s)
Child, Preschool , Bone Diseases, Developmental/etiology , Bone Diseases, Developmental/pathology , Osteochondrodysplasias/complications , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias
3.
Rev. chil. reumatol ; 27(1): 25-28, 2011. ilus
Article in Spanish | LILACS | ID: lil-609901

ABSTRACT

Introducción: El concepto de Osteopetrosis agrupa un conjunto de enfermedades óseas caracterizadas por aumento de la densidad ósea, debido a una disfunción osteoclástica. Esto determina una insuficiente resorción ósea, provocando un aumento en la densidad ósea, osteoesclerosis generalizada, disminución de la resistencia ósea e incluso supresión de la médula ósea. Presentación del caso: Paciente de sexo masculino, de 20 años de edad, antecedentes de consanguinidad, con diagnóstico de osteopetrosis. Se destacan hidrocefalia, retraso del desarrollo psicomotor, anopsia bilateral, fracturas reiteradas, osteomielitis maxilar bilateral crónica e hipoplasia medular. Consulta frecuentemente por episodios reiterados de diátesis hemorrágica (epistaxis y gingivorragia). Radiografías revelan aumento de la densidad ósea, deformidades y esclerosis ósea difusa. Discusión: Llama la atención la prolongada sobrevivencia de este paciente, mantenido con transfusiones de eritrocitos y plaquetas frente a cada episodio hemorragíparo. Conclusiones: El diagnóstico precoz y tratamiento oportuno evitarán alteraciones irreversibles, optimizando la calidad de vida de los pacientes y sus familias.


Introduction: Osteopetrosis refers to a group of bone diseases characterized by increased bone density due to osteoclast dysfunction. This leads to insufficient bone resorption, leading to increased bone density, generalized osteosclerosis, decreased bone strength and even bone marrow suppression. Case report: Man 20 years old, history of consanguinity, diagnosticated with osteopetrosis. Stands out hydrocephalus, psychomotor developmental delay, bilateral anopsia, repeated fractures, chronic bilateral maxillary osteomyelitis, and bone marrow hypoplasia. Frequently consult by repeated episodes of hemorrhagic diathesis (epistaxis and gingivorrhagia). X-rays revealed increased bone density, bone deformities and diffuse osteosclerosis. Discussion: Calls the attention the prolonged survival of this patient, maintained with red cell and platelets transfusions after each bleeding episode. Conclusions: Early diagnosis and prompt treatment prevent irreversible damage, optimizing quality of life of patients and their families.


Subject(s)
Humans , Male , Adult , Bone Diseases, Developmental/etiology , Osteopetrosis/complications , Osteopetrosis , Osteosclerosis/etiology
5.
J. pediatr. (Rio J.) ; 82(3): 236-239, May-June 2006. ilus
Article in Portuguese | LILACS | ID: lil-431081

ABSTRACT

OBJETIVO: O arqueamento das pernas geralmente é atribuído ao raquitismo causado pela carência de vitamina D; portanto, várias crianças afetadas acabam sendo classificadas erroneamente e tratadas inadequadamente. Este caso ilustra como uma avaliação clínica e radiológica cuidadosa pode levar à elucidação de sua causa. DESCRIÇÃO: Relatamos um caso esporádico de um menino de 2 anos de idade que apresentou achados radiológicos compatíveis com síndrome de Weismann-Netter-Stuhl. Além disso, observamos o complexo de malformação craniovertebral. O paciente possuía inteligência normal. Até onde sabemos, a combinação de síndrome de Weismann-Netter-Stuhl e occipitalização do atlas hipoplásico e posterior fusão das vértebras C2 e C3 nunca foi relatada antes. Descrevemos o diagnóstico da síndrome de Weismann-Netter-Stuhl. As características clássicas da síndrome de Weismann-Netter-Stuhl são baixa estatura, retardamento mental (em alguns indivíduos), calcificação da dura-máter e arqueamento anterior da tíbia. Todavia, acreditamos que um exame clínico e radiológico cuidadoso possa revelar dados mais contundentes que poderiam influenciar positivamente o processo de tratamento. COMENTARIOS: Presumimos que as limitações congênitas dos movimentos do pescoço em nosso paciente surgiram por causa da fusão acentuada do osso occipital ao atlas hipoplásico e da fusão simultânea da segunda e terceira vértebras. Portanto, se desconsiderarmos esse tipo de malformação, a estrutura atlanto-axial poderá ser comprometida, o que poderá causar complicações neurológicas sérias e até mesmo fatais. A tomografia tem um papel crucial na detecção dessas anormalidades.


Subject(s)
Humans , Male , Female , Child, Preschool , Abnormalities, Multiple/radiotherapy , Atlanto-Axial Joint/abnormalities , Bone Diseases, Developmental , Leg Length Inequality/etiology , Skull/abnormalities , Abnormalities, Multiple/etiology , Bone Diseases, Developmental/etiology , Fibula/abnormalities , Leg Length Inequality , Syndrome , Tomography, X-Ray Computed , Vitamin D Deficiency
6.
Rev. bras. ortop ; 35(5): 179-182, maio 2000. ilus
Article in Portuguese | LILACS | ID: lil-360921

ABSTRACT

Os autores relatam dois casos raros de gêmeas monozigóticas, de famílias distintas, apresentando tíbia vara de Blount do tipo infantil. Num caso a doença é unilateral nas irmãs e afeta assimetricamente membros opostos; no outro, uma paciente é afetada unilateralmente e a outra em ambas as pernas. Discutem a variabilidade de apresentação clínica da doença; na evolução do primeiro caso houve regressão da angulação inicial da deformidade. O relato tem o objetivo de acrescentar dois novos casos aos dois previamente descritos na literatura, além de discutir a etiologia da doença, questionando o possível caráter de transmissão genética.


Subject(s)
Humans , Female , Child, Preschool , Child , Adolescent , Bone Diseases, Developmental/etiology , Osteochondritis , Tibia , Bone Diseases, Developmental/genetics , Twins, Monozygotic
7.
Rev. bras. ortop ; 30(10): 783-6, out. 1995. ilus
Article in Portuguese | LILACS | ID: lil-162639

ABSTRACT

Trabalho baseado na reavaliaçao de oito pacientes, em idade de crescimento, que apresentaram fratura da metáfise proximal da tíbia e que, no acompanhamento tardio, evoluíram com deformidade em valgo progressivo. Em todos os casos, o tratamento inicial foi o incruento através da reduçao dos fragmentos e imobilizaçao gessada. Após 12 meses de acompanhamento, constatava-se deformidade em valgo da tíbia, de intensidade variável. Os autores revisaram a bibliografia existente, discutem as hipóteses etiológicas e alertam para a possibilidade da ocorrência, propondo condutas terapêuticas.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Bone Diseases, Developmental/etiology , Tibial Fractures/complications , Bone Diseases, Developmental/surgery , Follow-Up Studies , Tibial Fractures/surgery , Tibial Fractures , Osteotomy
8.
Yonsei Medical Journal ; : 97-104, 1984.
Article in English | WPRIM | ID: wpr-28946

ABSTRACT

There is much confusion in orthopedic literature regarding the nature and significance of the so-called acetabular labrum in congenital dislocation of the hip. This experiment describes an animal model in which the relationship between eversion of the acetabular labrum and acetabular dysplasia with degeneration of the articular cartilage was studied. The acetabulum gradually become shallower and more vertically oriented and the femoral head gradually subluxed, but never dislocated. The radiographic appearance of the hip dysplasia was very similar to that seen in human beings. The animals remained asymptomatic without clinically visible signs of hip abnormality throughout the study. It was clearly demonstrated that there was substantial amounts of degenerative change in the articular cartilages of the subluxed hip with no evidence of degenerative change radiologically. It could be concluded that excision of the acetabular labrum should be avoided during open reduction of congenital dislocation of the hip.


Subject(s)
Acetabulum/pathology , Animals , Bone Diseases, Developmental/etiology , Dogs , Hip Dislocation/complications , Osteoarthritis/etiology
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