Neonatal status epilepticus due to lamination disorder without significant cell death

Background: Malformations of the cerebral cortex may be associated with severe epilepsy and status epilepticus. It has been shown that status epilepticus models induce excitotoxic cell death. In humans, very few data are available. Case and results: We report a case of a multifocal disorder of the lamination diagnosed in a neonate, borne at 30 weeks’ gestation, who died from a refractory status epilepticus at two months and half. This abnormality was not detected by repeated MRI studies. Only microscopic investigations permitted to identify this disorder of the lamination. We found also little cell death or cell loss. Discussion: Our report highlights the possible false negative results of MRI in a newborn. We can also discuss that immature human brain maybe less sensitive to neuronal injury than mature as described in animal models.     

Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report

Documenta Ophthalmologica - Neuronal ceroid lipofuscinoses (CLN) are neurodegenerative disorders among the most frequent, inherited as an autosomal recessive trait. Affected patients can present...     

Paediatric skin disorders encountered in an emergency hospital facility: a prospective study

To determine the frequency of skin disorders encountered in a paediatric emergency care unit and to evaluate the benefits of advice from a dermatologist, we prospectively recorded data of children admitted with skin disorders to the emergency care unit during a 5-month period. Diagnostic agreement between paediatricians and dermatologists evaluating the patients separately was assessed. Three hundred and ninety-five children (median age 3 years; interquartile 1-6) were included. Skin disorders represented 4% of all paediatric emergency care unit visits. Visits were considered as appropriate in 19-30% of cases according to different criteria. Six diseases accounted for 57% of cases: viral exanthema, urticaria, atopic dermatitis, varicella, diaper dermatitis and herpetic gingivostomatitis. The dermatologist modified the diagnosis in 42% of cases and the treatment in 30%. Greater emphasis on teaching the skin disorders encountered in this setting and efforts to provide easy access to advice from dermatologist would improve the quality of care.