Pediatric Reports

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Open AccessBrief Report

Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient

by Natalie Gengel and Ian Marshall

Pediatr. Rep. 2017, 9(2), 6810; https://doi.org/10.4081/pr.2017.6810 - 27 Jun 2017

Cited by 4 | Viewed by 453

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 [...] Read more.

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS. Full article

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Open AccessArticle

Pediatric Laparoscopy and Adaptive Oxygenation and Hemodynamic Changes

by Gloria Pelizzo, Veronica Carlini, Giulio Iacob, Noemi Pasqua, Giuseppe Maggio, Marco Brunero, Simonetta Mencherini, Annalisa De Silvestri and Valeria Calcaterra

Pediatr. Rep. 2017, 9(2), 7214; https://doi.org/10.4081/pr.2017.7214 - 26 Jun 2017

Cited by 13 | Viewed by 1169

Abstract

Adaptive changes in oxygenation and hemodynamics are evaluated during pediatric laparoscopy. The children underwent laparoscopy (LAP Group, n=20) or open surgery (Open Group, n=10). Regional cerebral (rScO2) and peripheral oxygen saturation (SpO2), heart rate (HR), diastolic (DP) and systolic pressure (SP) were monitored [...] Read more.

Adaptive changes in oxygenation and hemodynamics are evaluated during pediatric laparoscopy. The children underwent laparoscopy (LAP Group, n=20) or open surgery (Open Group, n=10). Regional cerebral (rScO2) and peripheral oxygen saturation (SpO2), heart rate (HR), diastolic (DP) and systolic pressure (SP) were monitored at different intervals: basal (T0); anesthesia induction (T1); CO2PP insufflation (T2); surgery (T3); CO2PP cessation (T4); before extubation (T5). At T1, in both the LAP and Open groups significant changes in rScO2, DP and SP were recorded compared with T0; a decrease in SatO2 was also observed at T5. In the LAP group, at T2, changes in HR related to CO2PP pressure and in DP and SP related to IAP were noted; at T4, a SP change associated with CO2PP desufflation was recorded. Open group, at T3 and T5 showed lower rScO2 values compared with T1. Pneuperitoneum and anesthesia are influent to induce hemodynamics changes during laparoscopy. Full article

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Open AccessCase Report

Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt

by Carlos Pérez-García, Yolanda Ruíz Martín, Alejandra Aguado del Hoyo, Carlos Marín Rodríguez and Minia Campos Domínguez

Pediatr. Rep. 2017, 9(2), 7211; https://doi.org/10.4081/pr.2017.7211 - 26 Jun 2017

Cited by 7 | Viewed by 412

Abstract

We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical [...] Read more.

We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS. Some of these lesions may be secondary to birth trauma (given the skull defect) whilst others have a watershed location, perhaps as further evidence of vascular disruption and decreased perfusion during critical periods of fetal brain development as the previously proposed pathogenesis of this syndrome. Full article

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Open AccessCase Report

Kawasaki Disease Presenting With Bloody Diarrhea and Acute Renal Failure: First Case

by Mary Jacqueline Saviour and Sam Hassan

Pediatr. Rep. 2017, 9(2), 7163; https://doi.org/10.4081/pr.2017.7163 - 26 Jun 2017

Cited by 4 | Viewed by 415

Abstract

Kawasaki disease (KD) is an acute febrile vasculitis of an unknown cause. It affects children ≤5 year of age, even if cases over 5 years old have been also reported. It is the commonest cause of acquired heart diseases in children which may [...] Read more.

Kawasaki disease (KD) is an acute febrile vasculitis of an unknown cause. It affects children ≤5 year of age, even if cases over 5 years old have been also reported. It is the commonest cause of acquired heart diseases in children which may lead to serious morbidity and mortality. The complications and mortality increase when the diagnosis is delayed. One of the main reasons leading to delayed diagnosis and consequent delayed treatment is the unusual presentation of KD. Its unusual manifestations have been increasingly reported to jeopardize the timely diagnosis and proper treatment. As there is not yet available blood test to diagnose it, low threshold should be taken into account for considering KD, when the clinical criteria are not typical. KD with renal manifestations is infrequently described. We present and discuss a case of an unusual presentation of KD presenting as bloody diarrhea and acute renal failure. Full article

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Open AccessCase Report

Isolated Ileal Perforation in Infancy: A Lethal Initial Presentation of Hirschsprung’s Disease

by Fadi Iskandarani, Chawki Hammoud, Sarah Srour, Gloria Pelizzo, Ghassan Nakib, Valeria Calcaterra and Amir Khanafer

Pediatr. Rep. 2017, 9(2), 7084; https://doi.org/10.4081/pr.2017.7084 - 26 Jun 2017

Cited by 2 | Viewed by 401

Abstract

A rare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and [...] Read more.

A rare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed. A totally collapsed microcolon was identified. Biopsies were taken from the high rectum, sigmoid and hepatic flexure. Appendectomy and ileostomy were performed. All biopsies, as well as the appendix, showed absence of ganglion cells. Despite this procedure the patient progressively deteriorated and later died due to sepsis. Ileal perforation in infants is a rare, but potentially fatal initial presentation of TCA. Early detection is essential to prevent life-threatening complications. Full article

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Pediatr. Rep., Volume 9, Issue 2 (June 2017) – 5 articles

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