ABSTRACT
We report the case of a XXY boy who presents progressive neurological disorder which has started around eleven months of age, with developmental stagnation followed by regression. The child presents as well stereotypic hand movements, loss of purposeful hands use and microcephalia. Presence of any defined systemic or neurological condition which could be pointed out as the possible etiological factor for the case was not found out by investigations. It deals with a boy with phenotypic alterations very similar to those considered typical for Rett syndrome which associated with chromosomal alteration (XYY karotype) constitute evident scientific interest.
Subject(s)
Klinefelter Syndrome/diagnosis , Rett Syndrome/diagnosis , Child, Preschool , Humans , Karyotyping , Klinefelter Syndrome/genetics , Male , Phenotype , Rett Syndrome/geneticsABSTRACT
The authors report the case of an infant with an extensive face hemangioma with subglottic airway obstruction which had been successfully treated with interferon alpha 2A but then reoccurred with the same dimensions and airway blockage after treatment was abruptly interrupted. The authors suggest the implementation of a standard procedure for the interruption of interferon alpha 2A treatment in order to avoid this rebound effect and advise on the need for further studies to properly evaluate dosage and administration parameters for interferon alpha 2A in the treatment of difficult hemangioma.
Subject(s)
Airway Obstruction/etiology , Antineoplastic Agents/therapeutic use , Facial Neoplasms/drug therapy , Hemangioma/drug therapy , Interferon-alpha/therapeutic use , Airway Obstruction/surgery , Facial Neoplasms/complications , Female , Hemangioma/complications , Humans , Infant, Newborn , Interferon alpha-2 , Recombinant Proteins , TracheostomyABSTRACT
Origin of the right coronary artery from the pulmonary artery is a rare lesion occasionally found at angiography or autopsy. We report the rare preoperative diagnosis, in a child, of anomalous origin of the right coronary artery from the pulmonary artery, in association with a ventricular septal defect. The chest radiograph was normal, but auscultation revealed a continuous murmur at the left sternal border and electrocardiography showed right and left ventricular hypertrophy. A transthoracic echocardiogram depicted anomalous origin of the right coronary artery from the pulmonary artery. Color-flow Doppler echocardiography indicated possible right-coronary-artery-to-right-ventricle fistulae. Diagnosis was made by selective left coronary arteriography, which showed retrograde filling of the right coronary artery from collateral vessels. Selective left coronary arteriography depicted intercoronary flow, with no fistulae. Operative repair consisted of moving the proximal right coronary artery from its origin at the pulmonary trunk to the aorta. An associated procedure for correction of the ventricular septal defect was performed. The postoperative cardiac angiogram showed that the ventricular septal defect was closed and that flow through the right coronary artery was normal. Preoperative diagnosis of anomalous origin of the right coronary artery from the pulmonary artery is important, because this condition is surgically correctable.
Subject(s)
Coronary Vessel Anomalies/surgery , Heart Septal Defects, Ventricular/surgery , Pulmonary Artery/abnormalities , Aorta/surgery , Child, Preschool , Coronary Angiography , Coronary Vessel Anomalies/diagnosis , Echocardiography , Echocardiography, Doppler, Color , Follow-Up Studies , Heart Septal Defects, Ventricular/diagnosis , Humans , Male , Postoperative Complications/diagnosis , Pulmonary Artery/surgeryABSTRACT
The objective of this study was to evaluate enuretic events and its relations to sleep stages, sleep cycles and time durations in a selected group of children with primary essential sleep enuresis. We evaluated 18 patients with mean age of 8.2 years old (ranging from 5 to 12 years); 10 were males and 8 females (n.s.). They were referred to the Sleep Disorders Center with the specific complaint of enuresis since the first years of life (primary). Pediatric, urologic and neurologic workup did not show objective abnormalities (essential). The standard all-night polysomnography including an enuresis sensor attached to the shorts in the crotch area was performed. Only enuretic events nights were included. All were drug free patients for two weeks prior to polysomnography. In this report, only one polysomnography per patient was considered. The enuretic events were phase related, occurring predominantly in non-REM (NREM) sleep (p < 0.05). There was no predominance of enuretic events among the NREM stages (n.s.). A tendency of these events to occur in the first two sleep cycles was detected but may be due to the longer duration of these cycles. The events were time modulated, adjusted to a normal distribution with a mean of 213.4 min of recording time.
