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.

Autoimmune pancreatitis (AIP) remains little known. It is part of the differential diagnosis of acute non-alcoholic, non-biliary pancreatitis. The clusters of arguments in favor of type 1 AIP diagnosis are the clinical profile (male aged 50-70), the imaging (diffusely enlarged, “sausage-like”, pancreas), the elevation of serum IgG4 beyond the threshold of 135 mg/dl, the histological criteria and the disease corticosensitivity. Type 1 AIP is a component of the systemic IgG4 disease. Lymphadenopathies, pancreatitis and tubulointerstitial nephritis are the most frequent pathologies occurring in IgG4 disease. The evolution is often favorable following treatment with corticosteroids. Given the risk of relapse, a follow-up is necessary. The purpose of this article is to highlight the major elements leading to the diagnosis and treatment of type 1 AIP.

Gaucher disease is the result of a deficiency of a lysosomal enzyme, glucocerebrosidase, which causes the accumulation of its substrate, glucosylceramide, in macrophages. Bone involvement, (hepato)splenomegaly, bleeding diathesis, thrombocytopenia, increased ferritin levels, and immunoglobulin abnormalities, such as monoclonal gammopathy or hypergammaglobulinemia, are all clinical or biological signs that should prompt a diagnosis of Gaucher disease. Type 1, the most common form, is responsible for visceral damage, while Types 2 and 3 are responsible for neurological disorders. The diagnosis, which is facilitated by using algorithms, is based on the confirmation of the enzyme deficiency and search for the causal mutation. Treatment involves the intravenous administration of the deficient enzyme, such as miglucerase, velaglucerase, or taliglucerase) or the use of oral molecules that inhibit the biosynthesis of glycosylceramide like miglustat or eliglustat.

Patients with lower urinary tract symptoms often report a decrease in quality of life, with a diminished self-confidence leading to social isolation and depression. Their symptoms are related to the dysfunction of the lower urinary tract, including the detrusor or urinary sphincter, and concern the storage, emptying phase, or both.

The year 2019 has been characterized by scientific findings demonstrating the central effect of botulinum toxin after its injection in the detrusor of patients suffering from overactive bladder. New therapeutic targets have also been evaluated. The past year has emphasized the relevant role of psychological comorbidities in non-obstructive voiding disorders, and our treatment armamentarium has thus been improved. Finally, several multidisciplinary guidelines concerning the workout and treatment of nocturia have been established.