Pediatric Reports

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Open AccessCase Report

Neonatal Hemophilia: A Rare Presentation

by Nuno Ferreira, Elisa Proença, Cristina Godinho, Dulce Oliveira, Ana Guedes, Sara Morais and Carmen Carvalho

Pediatr. Rep. 2015, 7(4), 6338; https://doi.org/10.4081/pr.2015.6338 - 21 Dec 2015

Cited by 4 | Viewed by 426

Abstract

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after [...] Read more.

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding. Full article

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Open AccessCase Report

Late-Onset Rash in Patients with Group A Beta-hemolytic Streptococcal Pharyngitis Treated with Amoxicillin

by Masahiko Kimura

Pediatr. Rep. 2015, 7(4), 5951; https://doi.org/10.4081/pr.2015.5951 - 18 Dec 2015

Viewed by 523

Abstract

We observed late-onset rashes in patients with group A beta-hemolytic streptococcal (GAS) pharyngitis. Of 1028 patients with GAS pharyngitis, which was principally treated with amoxicillin, we evaluated those who developed a late-onset rash and excluded those with scarlet fever alone. Twenty-one patients developed [...] Read more.

We observed late-onset rashes in patients with group A beta-hemolytic streptococcal (GAS) pharyngitis. Of 1028 patients with GAS pharyngitis, which was principally treated with amoxicillin, we evaluated those who developed a late-onset rash and excluded those with scarlet fever alone. Twenty-one patients developed a rash (2.0%, 95% confidence interval, 1.3- 3.1%), 7 to 20 days (median, 8 days) after GAS pharyngitis onset. The rashes were characterized by maculopapules, which increased in size with coalescence and some developing into plaques, with a symmetrical distribution with a propensity for the extremities, including the palms and soles. The clinical courses of the patients were good, and the rashes subsided within 14 days. A non-immediate reaction to β-lactams, which usually manifests as a maculopapular rash, is a possible cause in our patients, however, repeated courses of amoxicillin in 3 patients did not induce the rash. The underlying mechanism of the late-onset rash after GAS pharyngitis with amoxicillin treatment remains unclear. Full article

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Open AccessCase Report

Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso

by Makoura Barro, Bintou Sanogo, Aimée S. Kissou, Ad Bafa Ibrahim Ouattara and Boubacar Nacro

Pediatr. Rep. 2015, 7(4), 5817; https://doi.org/10.4081/pr.2015.5817 - 17 Dec 2015

Viewed by 328

Abstract

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The [...] Read more.

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals. Full article

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Open AccessCase Report

Specific Echocardiographic Findings Useful for the Diagnosis of Common Pulmonary Vein Atresia

by Hiroyuki Nagasawa and Kazuhiro Hirata

Pediatr. Rep. 2015, 7(4), 6228; https://doi.org/10.4081/pr.2015.6228 - 9 Dec 2015

Cited by 4 | Viewed by 299

Abstract

In this paper, we report a case of common pulmonary vein atresia, which is a very rare disease characterized by cyanosis, heart failure and pulmonary hypertension. Reverse flow in the pulmonary artery at end-diastole as well as in the isthmus of the aorta [...] Read more.

In this paper, we report a case of common pulmonary vein atresia, which is a very rare disease characterized by cyanosis, heart failure and pulmonary hypertension. Reverse flow in the pulmonary artery at end-diastole as well as in the isthmus of the aorta from early systole to end-diastole detected by echocardiography were found to be specific features useful in diagnosing the disease. Full article

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Pediatr. Rep., Volume 7, Issue 4 (December 2015) – 4 articles

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