RESUMEN
ABSTRACT: We report the case of a 13-year-old child presenting an unusual case of Guillian-Barre Syndrome (SGB). Its presentation is usually a progression of symmetrical muscle weakness that ascends from the lower extremities, moves toward a more proximal pathway, and is accompanied by absent or depressed tendon reflexes. Here, the patient presented with a rare presentation of Pharyngeal-Cervical-Brachial (PCB) variant of Guillain-Barré syndrome, where the symptomatology began with dysphagia and dyspnea, and the weakness was descending paralysis. The objective of this clinical case report is to highlight this extremely rare presentation of PCB variant of Guillain-Barré syndrome.
RésuméNous décrivons le cas d'un enfant âgé de 13 ans présentant une manifestation inhabituelle du syndrome de Guillain-Barré (SGB). Habituellement, le SGB se caractérise par une faiblesse musculaire symétrique ascendante des deux membres inférieurs, accompagnée d'une perte des réflexes ostéotendineux. Dans ce cas, le patient présentait une variante rare du SGB, appelée la variante Pharyngo-Cervico-Brachiale, où les symptômes ont débuté par une dysphagie et une dyspnée, et la faiblesse musculaire était descendante. L'objectif de cet article est de documenter cette présentation extrêmement rare de la variante Pharyngo-Cervico-Brachiale du syndrome de Guillain-Barré.
RESUMEN
Carnitine palmitoyltransferase deficiencies (CPD) are rare and caused by a defect in fatty acid oxidation. We here report the case of a 10-year-old patient with no particular previous history presenting with acute dyspnea associated with productive cough, fever and impaired general condition. The patient was polypneic with tachycardia, mitral systolic murmur and no sign of heart failure. Chest x-ray showed cardiomegaly and echocardiography revealed hypokinetic dilated cardiomyopathy. Carnitine palmitoyltransferase deficiency was diagnosed. Management was based on treatment for heart disease and strict hypopidic and hyperglucidic diet. Three months later, the patient presented with decompensated heart failure due to infection caused by antibiotic-resistant Aeromonas caviae identified in blood culture. CPD should be suspected in patients with dilated cardiomyopathy. This would enable early management which influences prognosis.
