Biomedical subjects
Publications and source records attributed to C R Mota.
A female is described with axial mesodermal dysplasia complex (AMDC) born to a consanguineous couple. This is thought to be the first description of a patient with AMDC born to consanguineous parents.
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Acute gastric volvulus in infancy is a rare disorder and a surgical emergency. Prompt clinical suspicion and radiological assessment are essential for this life-threatening condition. We report a 3-month-old female case, admitted for an initial suspicion of an intestinal obstruction. She presented unproductive retching, respiratory distress, epigastric distension and lethargy. It was not possible to introduce a naso-gastric tube. A radiological contrast study showed an occluded cardio-esophageal junction without passage of barium, two gastric fluid levels and a horizontally positioned stomach occupying the inferior portion of the left hemithorax, suggesting a left diaphragmatic hernia. Laparotomy revealed an acute mesenterico-axial gastric volvulus with a left posterolateral diaphragmatic hernia. The stomach volvulus was untwisted, the diaphragmatic defect was repaired after reduction of the herniated contents and no gastropexy was done. At 3 and 6-months follow-up examination the infant was asymptomatic and thriving.
We report two Portuguese sisters aged 9 and 12 years with symmetric well-circumscribed radiolucent cystic lesions on the long bone metaphysis of the hands and feet. The eldest also has soft tissue calcifications. They have no dysmorphic features and their growth is normal. Plasma values of parathyroid hormone (PTH), calcium, phosphorus, magnesium, and alkaline phosphatase are normal. Cerebral computed tomography (CT) scan shows no intracranial calcifications. A Raynaud phenomenon became evident during the last year in the eldest. The incisional biopsy of the left proximal metatarsial was performed through an area of typical radiographic appearance. The pathology specimen consisted of enchondroma tissue. The present cases are an extremely rare instance of this pathology, with symmetrical involvement of the hands and feet and a familial incidence.
A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiographic skeletal abnormalities is described. The parents were young, healthy, and not consanguineous; the mother had not used licit or illicit drugs, alcohol, or tobacco during pregnancy and had not been exposed to radiation or teratogenic chemicals. The clinical phenotype led us to study peroxisomal function. Plasmalogen content in erythrocytes, membrane, and fibroblasts; dihydroxyacetone phosphate acyltransferase (DHAP-AT), alkyldehydroxyaceton phosphate synthetase (a gift from Professor Henk van der Boch, Utrech) in fibroblasts; and phytanic and pristanic acids in plasma showed normal values. Immunocytofluorescence study with antibodies against peroxisomal membrane showed normal organelles. We found no reference in the literature of a case of RCDP with normal peroxisomal functions, but non-CDP has been described with peroxisomal dysfunction. This phenotype (RCDP) may be due to other metabolic error.
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From 1982 to 1992, nine patients underwent correction of vascular rings. The diagnosis was strongly suggested by symptoms of tracheoesophageal obstruction and was confirmed by barium esophagogram and angiography. Endoscopic studies were considered unnecessary and potentially harmful. Seven patients had double aortic arch, one patient right aortic arch with aberrant left subclavian artery and left ligamentum arteriosum and one patient anomalous origin of the left pulmonary artery. The anomaly was approached through a left thoracotomy in every patient. There were no operative or late deaths. When patients are symptomatic, vascular rings should be promptly repaired. The surgical risk is minimal, and the long term results are excellent.
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The authors report the clinical case of a female black infant, one month 22 days old, with sternal malformation (complete sternal cleft). She didn't show other associated malformations. Early surgical repair was done with success. The relevant nomenclature of sternal defects is discussed.
UNLABELLED: Heart murmur, most of them innocent, are the most common reason for referrals to a pediatric cardiologist. OBJECTIVE: The objective of this study was to analyse the utility of the electrocardiogram (ECG) and echocardiography in the initial assessment of heart murmurs in an asymptomatic pediatric population. MATERIAL AND METHODS: For each of 170 consecutive children who were seen for first time evaluation of a heart murmur, the clinical diagnosis was registered and the patients were classified as having innocent murmur (IM), pathologic murmur (PM), or possible pathologic murmur (PPM). The results of ECG and echocardiogram two-dimensional/Doppler were registered and changes in diagnosis were recorded and compared with the original impressions. RESULTS: After ECG no diagnosis was changed. After two-dimensional/Doppler echocardiogram the clinical diagnosis of innocent murmur in 118 children was changed to pathologic in one (one trivial pulmonary stenosis); pathologic murmurs in 43 children was changed to innocent in two; and possible pathologic in nine children was changed to innocent in six and possible pathologic in three. The clinical examinations had a sensitivity of 97.6%, specificity of 93.6%, positive predictive value of 95.3%, and negative predictive value of 99.1%. CONCLUSIONS: Clinical assessment by a Pediatric Cardiologist is sufficient to distinguish pathologic from innocent heart murmurs. Echocardiography, although diagnostic when heart disease is suspected, is unnecessary in a pediatric patient with clinically diagnosed innocent murmur.