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2.
Front Cardiovasc Med ; 11: 1327996, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38545348

RESUMO

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.
Artigo em Inglês | MEDLINE | ID: mdl-28132072

RESUMO

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.


Assuntos
Diabetes Mellitus/tratamento farmacológico , Atrofias Ópticas Hereditárias/tratamento farmacológico , Doenças Raras/diagnóstico , Doenças Raras/tratamento farmacológico , Doenças Urológicas/tratamento farmacológico , Síndrome de Wolfram/diagnóstico , Síndrome de Wolfram/tratamento farmacológico , Adolescente , Diabetes Mellitus/etiologia , Feminino , Humanos , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Atrofias Ópticas Hereditárias/etiologia , Polônia , Resultado do Tratamento , Doenças Urológicas/etiologia , Síndrome de Wolfram/complicações
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