A pediatric case of locked-in-syndrome

Laura Wulleman, Magali De Roy, Sybille Andries, Christine Bonnier, Leslie Danvoye Published in the journal : April 2020 Category : Pediatrics

The locked-in syndrome (LIS) is a rare neurologic disorder, especially in the pediatric population. It is defined by five clinical criteria: (1) persistence of eye opening and presence of vertical eye movements; (2) preserved superior cortical functions; (3) aphonia or severe hypophonia; (4) quadriplegia or quadriparesis; (5) initial communication mode with vertical eye movements or blinking. The LIS should be considered as part of the differential diagnoses appertaining to vegetative states and comas. The most common etiology is a pontine stroke, caused by vertebrobasilar artery thrombosis. We herein describe a pediatric clinical case of this pathology, which represents a challenge in terms of both diagnosis and management.

In this article, we present the etiological factors of ischemic pediatric stroke, a problem with multiple risk factors, with particular attention paid to post-varicella vasculopathy and its therapeutic management.

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Septic shock and pyomyositis in a 1-year-old boy caused by Panton-Valentine leukocidin-secreting Staphylococcus aureus

Julien Charlier (1), Astrid Haenecour (2), Dimitri Van der Linden (3) Published in the journal : December 2019 Category : Pediatrics

Pyomyositis is an acute bacterial infection involving one or multiple striated muscles, potentially leading to abscess formation. Albeit being uncommon, its consequences for the patient can be severe, even fatal. Primarily described in tropical countries, this condition may also occur in temperate regions. Its pathophysiology is still poorly understood. The initiating process could be a minor muscle traumatism followed by bacterial hematogenous colonization of the muscle. Generally, its clinical presentation is insidious and unspecific, its diagnosis being challenging for the clinician. Nevertheless, a rapid diagnosis allows an early antibiotherapy to be established and complications to be prevented. The cornerstone of pyomyositis diagnosis is magnetic resonance imaging (MRI), along with bacterial cultures from biological fluids. The main bacteria involved in this condition is Staphylococcus aureus (SA), while Panton-Valentine leucocidin (PVL) is a toxin secreted by SA. This toxin is reported to be a virulence factor in invasive SA infections, whereas its precise role is still controversial depending on the infection site. We herein present a case of pyomyositis caused by Panton-Valentine leukocidin-secreting SA, with abdominal wall involvement, in a 1-year-old boy from a tropical country who was spending his holiday in Belgium.

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Management of chronic hepatitis C in children

Pauline Van Gyseghem, Etienne Sokal (1) Published in the journal : December 2018 Category : Pediatrics

With about 11 million children suffering from chronic hepatitis C infection worldwide, hepatitis C remains a major concern in pediatrics. In children, the main source of transmission is vertical, from the mother to the child around birth. Overall, 80% of infected children will develop a chronic infection, with about 1-2% evolving into hepatic cirrhosis. Pediatric treatments aim to eradicate the virus in order to reduce the transmission risk and prevent tissue damage in the long-term. Classical treatments based on pegylated interferon and ribavirin allow sustained virologic response to be achieved in about 45 to 95% of cases (1). In adults, new direct-acting antiviral (DAA) regimens have been approved in recent years and are now being used in the first-line setting. The first successful study that tested their efficacy in a pediatric population reported a sustained virological response in 97 to 100% of cases (2). If this rate is confirmed in other ongoing studies, disease eradication in the pediatric population should be feasible, enabling us to eradicate the virus reservoir, a latent source of new contaminations and chronic liver diseases.

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Management of neonates at risk of early-onset sepsis: priority to a clinical strategy

Morgane Hancart(1), Danielle Rousseaux(2), Véronique Thiry(3), Jean-Paul Langhendries(4), Pierre Maton(4) Published in the journal : November 2018 Category : Pediatrics

The screening of early-onset sepsis in asymptomatic neonates at risk of infection is challenging and remains controversial. The objective of this study was to analyze the impact of standardized and optimized clinical surveillance in a targeted population of neonates at risk of infection, based on the updated Belgian recommendations.

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Pulmonary arteriovenous malformation and Peutz-Jeghers syndrome: literature review and discussion about diagnostic update, follow-up and treatment

Priscila Jijón(1), François Marolleau(2), Polycarpe Shango(3), Thierry Sluysmans(3), Stéphane Moniotte(3) Published in the journal : June 2018 Category : Pediatrics

Patients with PAVM may have hypoxemia, orthodeoxia, chest pain, hemoptysis, paradoxical embolizations leading to stroke and brain abscess. Peutz-Jeghers Syndrome is a disease characterized by the development of hamartomatous polyps in the gastrointestinal tract, mucocutaneous melanotic pigmentation and high risk of cancer. This is a case-report of the fortuitous association of these 2 diseases.

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Hypokalemic periodic paralysis

Elise Osterheld (1), Julien Mergen (1), Marianne Michel (1), Evelyne Heylen (2) Published in the journal : April 2018 Category : Pediatrics

Hypokalemic periodic paralysis is a rare autosomal dominant disorder, caused by a defect in calcium or sodium channels. Common triggers include intense physical activity, high carbohydrate intake, and stress. These paralysis episodes usually resolve within a few hours to a few days.

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IgA Nephropathy and Henoch-Schönlein purpura : discussion and consequences of their likely common physiopathology

Marie-Julie Debuf (1), Elise Hennaut (2), Jean-Philippe Stalens (3) Published in the journal : April 2018 Category : Pediatrics

Henoch-Schönlein purpura is a vasculitis characterized by IgA immune deposits in small vessels and involving the skin, digestive tract, renal glomeruli, and joints. IgA nephropathy is a glomerulonephritis that is characterized by mesangial deposits of IgA and is associated with episodes of hematuria and/or proteinuria mainly occurring after respiratory or gastrointestinal infections. Despite some differences regarding the typical age of onset and natural history, a growing number of clinical, histological, and biochemical evidence suggests that these diseases are different clinical expressions of the same pathophysiological process, which could have consequences on their management.

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When heart failure reveals itself as bronchiolitis

Georges de Bilderling (1), Claire Geurten (1), Jean Evrard (1), François Kanen (1), Laurent Houtekie (2), Alain Poncelet (3), Karlien Carbonez (4), Stéphane Moniotte (4) Published in the journal : April 2017 Category : Pediatrics

A 2-month-old baby is admitted to our unit for bronchiolitis. Due to the infant's prolonged symptoms with predominant feeding difficulties and because of a heart murmur noted on auscultation, cardiac ultrasound is performed, resulting in the diagnosis of ALCAPA syndrome (Anomalous Left Coronary Artery from Pulmonary Artery). ALCAPA is a rare but severe cardiac malformation, with early diagnosis and treatment being key to a good prognosis. Bronchiolitis can provoke heart failure, whereas clinical features of heart failure may mimic bronchiolitis. This clinical case underlines the need for performing a complete clinical examination, along with oriented diagnostic investigations, when confronted with a baby suffering from a respiratory condition whose severity or evolution appears unusual.

Key Words

ALCAPA, coronary malformation, cardiac failure, bronchiolitis, infant

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Hepatic glycogen phosphorylase kinase deficiency, a challenging diagnosis

Coralie De Bruyne, Joseph Dewulf, Mina Komuta, Etienne Sokal Published in the journal : May 2015 Category : Pediatrics

Glycogen storage diseases (GSD) are inherited metabolic diseases characterized by glycogen accumulation in the liver and/or muscles. Among liver GSDs, glycogen phosphorylase-phosphorylase kinase deficiency is responsible for GSD Type IX or VI. GSD Type IX results from a glycogen phosphorylase kinase deficiency and is primarily caused by a damage to one of the four different genes coding for the enzyme subunits. The most commonly affected gene is PHKA2, located on X chromosome. These GSDs are usually suspected in the event of hepatomegaly, elevated liver transaminases, and increased postprandial lactate levels, with a trend towards hypoglycemia, though fasting is often well tolerated. The diagnosis is generally made based on enzyme activity measurement in red blood cells and confirmed by genetic analysis. In boys, however, some variants are not characterized by a decreased erythrocyte activity. As a result, and if clinical manifestations are suggestive, the genes involved in GSD IX and VI must be analyzed in order to exclude this diagnosis, with the PHKA2 gene being analyzed first, followed by the PYGL gene (GSD VI).

This report presents our assumptions and diagnostic reflections regarding a clinical case with hepatomegaly, as well as elevated transaminases and postprandial lactate levels. The genetic study allowed us to detect a mutation in the PHKA2 gene that is responsible for the X-linked GSD Type IX, though this condition had previously been excluded.

What is already known about the topic?

The diagnosis of glycogen storage disease Type IX can generally be made based on enzyme activity measurement in red blood cells.

What does this article bring up for us?

• Normal erythrocyte phosphorylase kinase activity does not exclude the diagnosis of GSD Type IX.

• Among boys, some variants are not associated with decreased erythrocyte enzyme activity. Thus, if clinical manifestations are suggestive, the genes involved in glycogen storage diseases IX and VI should be analyzed in order to exclude this diagnosis.

• In this article, we have also reviewed the differential diagnosis of liver glycogen storage diseases

Practical recommendations

• Think of a glycogen storage disease type IX when a patient presents a hepatomegaly, elevated liver transaminases and postprandial high lactate. A tendency to hypoglycemia may be observed through a glycemic profile, but fasting is generally well tolerated.

• Even if the phosphorylase kinase activity is normal in erythrocytes, it is useful to conduct a genetic analysis of PHKA2 and PYGL genes, among boys, to formally exclude a type IX glycogen storage disease.

Key Words

Glycogen storage diseases, phosphorylase kinase, PHKA2, hepatomegaly, hypoglycemia, lactic acid, ketones

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Clinical evaluation in pediatric orthopedic practice: What should the general practitioner know?

M Mousny, A Renders Published in the journal : May 2016 Category : Pediatrics

Nowadays, pediatric orthopedics is considered a fully-fledged specialty, which differs from adult orthopedics in terms of both the pathologies encountered and the clinical approach. This article describes the “general” orthopedic clinical evaluation as performed by the authors in their daily practice. A particular emphasis is placed on the clinical aspects that may help general practitioners distinguish the normal from the pathological. Of note is that this article only addresses clinical assessment of walking-age children, in a timely fashion that is believed to progressively favor patient compliance.

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