Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy. Electrical status epilepticus in sleep (ESES) has been reported in two patients. We describe five male patients from three unrelated families with Christianson syndrome caused by a pathogenic nucleotide variation or a copy-number variation involving SLC9A6.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

Background: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset.

Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES).

Purpose: Fever induced refractory epileptic encephalopathy in school age children (FIRES) is a devastating condition initiated by prolonged perisylvian refractory status epilepticus (SE) triggered by fever of unknown cause. SE may last more than 1 month, and this condition may evolve into pharmacoresistant epilepsy associated with severe cognitive impairment. We aimed to report the effect of ketogenic diet (KD) in this condition.

An exceptional cause of intestinal obstruction in a 2-year-old boy: strangulated hernia of the ileum through Winslow's foramen.

The case of a 2-year-old boy suffering from a strangulated ileal herniation through Winslow's foramen into the lesser sac is reported. He presented an abdominal pain of sudden onset 16 hours previously. The clinical examination, abdominal x-ray, and sonography were not helpful in the assessment of the diagnosis of internal hernia, which was evoked by the computed tomography.

Conservative treatment of a mesenteric lymphangiomyomatosis in an 11-year-old girl with a long follow-up period.

The authors report the case of a 11-year-old girl admitted for a mesenteric tumor discovered during an appendicectomy. The abdominal Doppler echography and computed tomography (CT) scan showed a 8 x 6 x 7-cm multinodular mass involved in the mesenterium. Biological markers and iodine 131 meta-iodobenzylguanidine (MIBG) scintigraphy results were normal.