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2.
Front Cardiovasc Med ; 11: 1327996, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38545348

RESUMEN

We present a case of a 22-month-old boy with a hypokinetic and thin-walled aneurysm of the left ventricle apex. The lesion was diagnosed during routine echocardiography examination in the course of MIS-C, and its occurrence due to MIS-C is plausible. Cardiac magnetic resonance imaging revealed an akinetic aneurysm of the LV apex with a full-wall ischemic scar. Aortography confirmed a normal course of coronary arteries, with adequate perfusion of essential branches and no evidence of stenosis or aneurysms. The boy underwent consultation with the heart team and was deemed eligible for surgery. The aneurysm was excised up to the margin of healthy tissues, and both the surgery and the periprocedural period were uneventful. Determining the origin of the aneurysm is challenging. The most probable etiology appears to be a congenital lesion. Another consideration is an ischemic lesion that may have resulted from impaired coronary circulation during the complicated course of MIS-C. It is possible that this disturbance resolved spontaneously before aortography was performed. Additionally, a complication of pericarditis cannot be entirely ruled out.

3.
Artículo en Inglés | MEDLINE | ID: mdl-28132072

RESUMEN

Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of ß cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life.


Asunto(s)
Diabetes Mellitus/tratamiento farmacológico , Atrofias Ópticas Hereditarias/tratamiento farmacológico , Enfermedades Raras/diagnóstico , Enfermedades Raras/tratamiento farmacológico , Enfermedades Urológicas/tratamiento farmacológico , Síndrome de Wolfram/diagnóstico , Síndrome de Wolfram/tratamiento farmacológico , Adolescente , Diabetes Mellitus/etiología , Femenino , Humanos , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Atrofias Ópticas Hereditarias/etiología , Polonia , Resultado del Tratamiento , Enfermedades Urológicas/etiología , Síndrome de Wolfram/complicaciones
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