RESUMO
Background: 20q11.2 microdeletion syndrome [ORPHA: 444051] is a rare disease, since 16 patients have been reported in literature worldwide. Prevalence ratio is < 1:1,000,000 individuals. Haploinsufficiency on GDF5, SAMHD1 and EPB41L1 genes is important due to phenotypic manifestations in patients. Clinical features can be grouped into craniofacial abnormalities, limb abnormalities, neurological and perinatal disorders. The aim of this report is to present a clinical case of 20q11.21-q11.23 microdeletion, to describe clinical manifestations found, to compare them with features reported in literature, and to contribute to the phenotypic spectrum expansion. Clinical case: 5-year-old female patient who presented hypotonia, psychomotor retardation, microcephaly, facial dysmorphia, pectus excavatum, thoracolumbar scoliosis, right hip subluxation, camptodactyly and clinodactyly. Karyotype test was normal and SNP microarray test reported deletion of chromosomal region 20q11.21-q11.23. Conclusions: It was presented a 20q11.2 microdeletion syndrome confirmed case that shares the features reported in literature, in addition to previously unreported features, such as blepharoptosis, pectus excavatum, scoliosis and hip dysplasia. Interdisciplinary management is important to improve the patient's condition (in her 3 spheres), in order to achieve her best possible health status.
Introducción: el síndrome de microdeleción 20q11.2 [ORPHA: 444051] es una enfermedad rara, pues se han reportado 16 casos a nivel mundial. Su prevalencia se estima en < 1:1,000,000 de nacidos vivos. Induce haploinsuficiencia en los genes GDF5, SAMHD1 y EPB41L1, los cuales son de importancia clínica por las manifestaciones fenotípicas. Se caracteriza por anomalías craneofaciales, anomalías de extremidades, alteraciones neurológicas y perinatales. El objetivo de este reporte es presentar un caso de microdeleción 20q11.21-q11.23, describir las manifestaciones clínicas encontradas, compararlo con lo reportado en la literatura y colaborar en la ampliación del espectro fenotípico. Caso clínico: paciente del sexo femenino de 5 años que presentó hipotonía, retraso psicomotor, microcefalia, dismorfias faciales, pectus excavatum, escoliosis toracolumbar, subluxación de cadera derecha, camptodactilia y clinodactilia. La prueba de cariotipo se reportó sin alteraciones y el ensayo de microarreglo de polimorfismos de un nucleótido (SNP) reportó deleción de la región cromosómica 20q11.21-q11.23. Conclusiones: se presentó un caso confirmado de síndrome de microdeleción 20q11.2 que comparte las características reportadas en la literatura, además de características no reportadas previamente, como ptosis palpebral, pectus excavatum, escoliosis y displasia del desarrollo de cadera. Es importante el manejo interdisciplinario para buscar mejoría en la condición de la paciente (en sus 3 esferas), a fin de alcanzar el mejor estado de salud posible.
Assuntos
Fenótipo , Humanos , Feminino , Pré-Escolar , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/diagnóstico , Deleção CromossômicaRESUMO
Severe hyponatremia occurring as the presenting feature of hypopituitarism secondary to pituitary adenomas is rare. We report three patients with this condition: Two elderly males (74 and 78 year-old) presenting with impaired consciousness and low plasma sodium after an episode of diarrhea and a 56-year-old male presenting with impaired consciousness after an episode of vomiting. All had clinical features of hypopituitarism and pituitary adenomas were found on imaging studies. Two were subjected to a trans sphenoidal resection of the adenoma.
Assuntos
Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Adenoma/complicações , Hiponatremia/etiologia , Hipopituitarismo/complicações , Neoplasias Hipofisárias/complicações , Adenoma/diagnóstico , Adenoma/terapia , Hiponatremia/diagnóstico , Hiponatremia/terapia , Hipopituitarismo/diagnóstico , Hipopituitarismo/terapia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/terapia , Índice de Gravidade de DoençaRESUMO
Severe hyponatremia occurring as the presenting feature of hypopituitarism secondary to pituitary adenomas is rare. We report three patients with this condition: Two elderly males (74 and 78 year-old) presenting with impaired consciousness and low plasma sodium after an episode of diarrhea and a 56-year-old male presenting with impaired consciousness after an episode of vomiting. All had clinical features of hypopituitarism and pituitary adenomas were found on imaging studies. Two were subjected to a trans sphenoidal resection of the adenoma.
Assuntos
Adenoma/complicações , Hiponatremia/etiologia , Hipopituitarismo/complicações , Neoplasias Hipofisárias/complicações , Adenoma/diagnóstico , Adenoma/terapia , Idoso , Humanos , Hiponatremia/diagnóstico , Hiponatremia/terapia , Hipopituitarismo/diagnóstico , Hipopituitarismo/terapia , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/terapia , Índice de Gravidade de DoençaRESUMO
We report two previously healthy males aged 33 and 37 years, presenting with severe pain in the right and left part of the abdomen, respectively. An abdominal CT scan showed in both a kidney infarction. An angio-CAT scan showed changes compatible with a fibromuscular dysplasia in the renal arterial wall. An angiography showed an intimal tear or complex dissection flap in both cases. Both had a satisfactory evolution with conservative treatment. The relationship between fibromuscular dysplasia and spontaneous dissection of the renal artery is discussed.
Assuntos
Dissecção Aórtica/diagnóstico por imagem , Infarto/diagnóstico por imagem , Rim/irrigação sanguínea , Artéria Renal/diagnóstico por imagem , Doença Aguda , Adulto , Dissecção Aórtica/complicações , Humanos , Infarto/etiologia , Masculino , RadiografiaRESUMO
We report two previously healthy males aged 33 and 37 years, presenting with severe pain in the right and left part of the abdomen, respectively. An abdominal CT sean showed in both a kidney infarction. An angio-CAT sean showed changes compatible with a fibromuscular dysplasia in the renal arterial wall. An angiography showed an intimal tear or complex dissection flap in both cases. Both had a satisfactory evolution with conservative treatment. The relationship between fibromuscular dysplasia and spontaneous dissection of the renal artery is discussed.
Assuntos
Adulto , Humanos , Masculino , Dissecção Aórtica , Infarto , Rim/irrigação sanguínea , Artéria Renal , Doença Aguda , Dissecção Aórtica/complicações , Infarto/etiologiaRESUMO
With the availability of new diagnostic techniques, numerous alterations are found, whose real importance for health is uncertain. The term <