[Cri-du-chat syndrome. A case report].
We report a documented case in Senegal with cri-du-chat syndrome diagnosed in a 3 months old girl. Our patient benefited from clinical examination, ECG (15 derivations), chest X ray and standard laboratory tests. The cry has been recorded on a magnetic band. We performed also a pulsed-Doppler, two dimensional and TM echocardiography. Chromosomal analysis has been realized. These data are discussed and compared to the literature. At admission this patient presents characteristic cat like cry. At examination, there is a facial dysmorphy, important growth retardation and feeding dyspnea. Auscultation shows a 3/6 left sub-clavicular systolic murmur. Laboratory tests show anemia (hemoglobin = 7.8 g/dl). Chest x-ray showed a cardio-thoracic ratio at 0.61 with increased pulmonary vascular markings. ECG showed right ventricular hypertrophy. Echocardiography-Doppler revealed persistent ductus arteriosus (PDA). Chromosomal analysis shows deletion of the short arm of chromosome 5. After treatment with digitalis and diuretics there was an improvement of cardiac failure. Diagnosis of cri-du-chat syndrome is easy when characteristic cat-like-cry is present. Cardiovascular abnormalities are unfrequent in this syndrome (20% of the cases). They are dominated by ventricular septal defect and PDA. Hemodynamic failure and related growth retardation can lead to cardiac surgery.
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Clinique Cardiologique CHU A. Le Dantec-Dakar, Sénégal.
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D003241:Consanguinity; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis* / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D004452:Echocardiography; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D017380:Hypertrophy, Right Ventricular / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D011379:Prognosis; D012675:Senegal