RESUMO
BACKGROUND: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children. CASE REPORT: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected. The patient remained asymptomatic. After excluding other diseases, we requested a positron emission computed tomography (PET-CT); lesions compatible with large-vessel vasculitis were detected. Cardiology evaluation showed an aneurysm in the right coronary artery. Angio-CT suggested Takayasu type III arteritis. CONCLUSIONS: The delay in the diagnosis of Takayasu arteritis in pediatric patients is quite common. In this case, we have found phase II lesions, with no previous phase I symptoms. However, PET-CT allowed the diagnosis of vasculitis, key to the diagnosis of the patient.
INTRODUCCIÓN: La arteritis de Takayasu es una vasculitis de grandes vasos que afecta a las arterias elásticas de gran calibre, fundamentalmente la aorta y sus ramas principales. Ocurre frecuentemente en mujeres entre los 20-30 años, por lo que es muy infrecuente en la edad pediátrica. CASO CLÍNICO: Se presenta el caso de una paciente de 15 años en seguimiento desde los 9 años por enfermedad celiaca. A los 13 años se detectó anemia de trastornos crónicos, elevación de proteína C reactiva y velocidad de sedimentación globular. La paciente permaneció en todo momento asintomática. Tras descartar otros procesos, se solicitó tomografía computarizada por emisión de positrones (PET-TC), donde se detectaron lesiones compatibles con vasculitis de grandes vasos. La valoración por Cardiología evidenció un aneurisma en coronaria derecha. Se realizó angio-TC, que sugirió arteritis de Takayasu tipo III. CONCLUSIONES: Es frecuente un retraso en el diagnóstico de la arteritis de Takayasu en los pacientes pediátricos. En este caso se encontraron lesiones de la fase II sin la presencia de síntomas correspondientes a la fase I. El PET-TC permitió el diagnóstico de vasculitis, clave para el diagnóstico de la paciente.
Assuntos
Doença Celíaca , Arterite de Takayasu , Humanos , Feminino , Criança , Adolescente , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Elétrons , Achados IncidentaisRESUMO
Resumen Introducción: La arteritis de Takayasu es una vasculitis de grandes vasos que afecta a las arterias elásticas de gran calibre, fundamentalmente la aorta y sus ramas principales. Ocurre frecuentemente en mujeres entre los 20-30 años, por lo que es muy infrecuente en la edad pediátrica. Caso clínico: Se presenta el caso de una paciente de 15 años en seguimiento desde los 9 años por enfermedad celiaca. A los 13 años se detectó anemia de trastornos crónicos, elevación de proteína C reactiva y velocidad de sedimentación globular. La paciente permaneció en todo momento asintomática. Tras descartar otros procesos, se solicitó tomografía computarizada por emisión de positrones (PET-TC), donde se detectaron lesiones compatibles con vasculitis de grandes vasos. La valoración por Cardiología evidenció un aneurisma en coronaria derecha. Se realizó angio-TC, que sugirió arteritis de Takayasu tipo III. Conclusiones: Es frecuente un retraso en el diagnóstico de la arteritis de Takayasu en los pacientes pediátricos. En este caso se encontraron lesiones de la fase II sin la presencia de síntomas correspondientes a la fase I. El PET-TC permitió el diagnóstico de vasculitis, clave para el diagnóstico de la paciente.
Abstract Background: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children. Case report: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected. The patient remained asymptomatic. After excluding other diseases, we requested a positron emission computed tomography (PET-CT); lesions compatible with large-vessel vasculitis were detected. Cardiology evaluation showed an aneurysm in the right coronary artery. Angio-CT suggested Takayasu type III arteritis. Conclusions: The delay in the diagnosis of Takayasu arteritis in pediatric patients is quite common. In this case, we have found phase II lesions, with no previous phase I symptoms. However, PET-CT allowed the diagnosis of vasculitis, key to the diagnosis of the patient.
RESUMO
Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates. OBJECTIVE: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause. CLINICAL CASE: A 10-month-old male infant with severe axial and peripheral hypotonia, global weakness with little spontaneous mobility, without head support or stable sitting. Complete metabolic and peripheral neurophysiological studies were performed. Genetic studies for spinal muscular atrophy, Prader Willi syndrome, and myotonic dystrophy were also performed. The trio exome analysis detected a probably pathogenic variant c.359C>T;p.(Ser120Phe), hemizygous in exon 1 of the SLC16A2 gene, inherited from the mother. Thyroid abnormalities as increased free triiodothyronine (T3) and thyroid-stimulating hormone (TSH), and delayed myelination were ob served. CONCLUSIONS: MCT8 deficiency should be considered in the case of the male infant with unex plained hypotonia and weakness without a determined cause. The diagnosis is guided by a thyroid profile including free T3 hormone, because it presents a characteristic thyroid profile with decreased free thyroxine (T4), increased free T3, and normal or slightly elevated TSH levels. In this case, the implementation of the trio exome analysis allows establishing an early certain diagnosis.