[Hypotonic infant].

Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice. The hypotonic syndrome is a working diagnosis and its etiology must be identified to determine associated morbidities, prognosis, and management. Rapid advances in bioinformatics and molecular genetic testing allow for early accurate diagnoses in the diagnostic process.

Neuromuscular complications of severe COVID-19 in paediatric patients: Medium-term follow-up.

Neuromuscular complications in paediatric patients with severe coronavirus disease 2019 (COVID-19) are poorly characterised. However, adult patients with severe COVID-19 reportedly present with frequent neuromuscular complications that mainly include critical illness polyneuropathy (CIP), critical illness myopathy (CIM), and focal neuropathies. We examined the records of all paediatric patients with severe COVID-19 who were mechanically ventilated and experienced neuromuscular complications from our single tertiary centre between March 2020 and August 2021.

[Influenza A-associated acute necrotizing encephalopathy].

Introduction: Acute necrotizing encephalopathy of childhood (ANEC) is a rare disease characterized by alteration of consciousness and multiple symmetric brain lesions mainly involving the thalamus. It presents a high mortality rate and severe sequelae.

Objective: To describe a school-age patient with influenza A-related ANEC with favorable evolution.

Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly.

Neutral lipid storage disease with myopathy is an ultra-rare, inherited autosomal recessive neuromuscular metabolic disorder caused by pathogenic variants in PNPLA2. It typically presents in adults as a progressive myopathy and is associated with myocardiopathy, hepatic involvement, and high creatine kinase levels. Only three children and adolescents with neutral lipid storage disease with myopathy have been reported.

Guillain-Barré Syndrome and Hydrocephalus in an infant with Wiskott-Aldrich Syndrome.

Introduction: Guillain-Barre Syndrome (GBS) is rarely diagnosed in the first year of life. The association of GBS with Wiskott-Aldrich syndrome (WAS) is even less frequent and has been previously reported in only two children to our knowledge. Hydrocephalus is a known but rare complication of GBS.