RESUMEN
We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and acute pulmonary edema due to severe hypertension. We considered the diagnosis based on biological and radiological examinations. The sociocultural background and the delayed diagnosis had a significant impact on the therapeutic decisions. All babies should be screened for 11 beta-hydroxylase deficiency, there should be specialized and interdisciplinary medical centers, and early detection is essential to avoiding serious complications of this disease.
RESUMEN
Kawasaki disease (KD) is a vasculitis mostly seen in children aged less than 5 years. It can involve different organs and tissues. Its diagnosis is based on the clinical criteria of the American Heart Association (AHA). We report a case of a Moroccan adolescent with an atypical presentation of KD initially treated as typhoid fever. Gastrointestinal, renal, and pulmonary signs were the main clinical findings that made the diagnosis of KD challenging and delayed. The consequence was a severe cardiac damage with myocarditis and coronary artery dilation. KD is uncommon in adolescents, and it is important to recognize the atypical forms and the different presentations of KD in order to prevent the delay of diagnosis and treatment, and hence the cardiac complications.
RESUMEN
"Cutis laxa" (CL) are rare elastic tissue disorders characterized by loose, sagging skin. They can be a congenital or acquired condition. Inherited cutis laxa is a heterogeneous group of disorders characterized by the severity of their visceral involvement and by their mode of transmission. Three groups have been identified on the basis of their genetic transmission: autosomal dominant, recessive autosomal, X-linked recessive. The severity of the visceral involvement affects the prognosis of inherited CL which is potentially fatal in the short term in patients with cardiac or pulmonary involvement. This study aims to remind clinicians of this rare affection through direct observation of an infant being followed-up for respiratory distress sixteenth days after birth.
