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. ESES was present in three out of the five patients in the critical age window between 4 and 8 years. All patients presented with severe intellectual disability, autistic features, and hyperactivity. Epilepsy onset occurred within the first two years of life. Seizures were of various types. In the two boys with a 20-years follow-up, epilepsy was drug-resistant during childhood, and became less active in early adolescence. Psychomotor regression was noted in two patients presenting with ESES. It was difficult to assess to what extent ESES could have contributed to the pathophysiological process, leading to regression of the already very limited communication skills. The two published case reports and our observation suggests that ESES could be a constitutive feature of Christianson syndrome, as it has already been shown for other Mendelian epileptic disorders, such as GRIN2A and CNKSR2-related developmental epileptic encephalopathies. Sleep EEG should be performed in patients with Christianson syndrome between 4 and 8 years of age. ESES occurring in the context of ID, ASD and severe speech delay, could be helpful to make a diagnosis of CS.

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. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database. RESULTS: Data from 16 patients were reviewed. These 16 patients displayed type 0 SMA. At birth, a vast majority had profound hypotonia, severe muscle weakness, severe respiratory distress, and cranial nerves involvement (inability to suck/swallow, facial muscles weakness). They showed characteristics of fetal akinesia deformation sequence and congenital heart defects. Recurrent episodes of bradycardia were observed. Death occurred within the first month. At prenatal stage, decreased fetal movements were frequently reported, mostly only by mothers, in late stages of pregnancy; increased nuchal translucency was reported in about half of the cases; congenital heart defects, abnormal amniotic fluid volume, or joint contractures were occasionally reported. CONCLUSION: Despite a prenatal onset attested by severity at birth and signs of fetal akinesia deformation sequence, prenatal manifestations of type 0 SMA are not specific and not constant. As illustrated by the frequent association with congenital heart defects, type 0 SMA physiopathology is not restricted to motor neuron, highlighting that SMN function is critical for organogenesis.

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. METHODS: Over the last 12 years we collected data of nine patients with FIRES who received a 4:1 ratio of fat to combined protein and carbohydrate KD. They presented with SE refractory to conventional antiepileptic treatment. RESULTS: In seven patients, KD was efficacious within 2-4 days (mean 2 days) following the onset of ketonuria and 4-6 days (mean 4.8 days) following the onset of the diet. In one responder, early disruption of the diet was followed by relapse of intractable SE, and the patient died. Epilepsy affected the other six responders within a few months. DISCUSSION: KD may be an alternative therapy for refractory SE in FIRES and might be proposed in other types of refractory SE in childhood.

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. At laparotomy, approximately 30 cm of the strangulated ileum was reduced through Winslow's foramen. Fifteen centimeters of the ileum was gangrenous and thus resected with an end-to-end anastomosis. Despite its congenital character, strangulated hernia of the ileum through Winslow's foramen is diagnosed more frequently in adulthood and exceptionally in childhood. Early diagnosis and treatment are crucial because of the high morbidity and mortality associated with strangulation.

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. Percutaneous biopsies were performed. Pathology results showed perilymphatic proliferation of smooth muscle cells leading to cystic lesions. No sign of malignancy was seen. Laparotomy showed a multinodular fixed mass involved from the root of the mesenterium. The superior mesenteric vessels were encircled by the tumor, which could not be resected completely. Partial resection was performed. The pathology and the immunohistochemical tests confirmed the diagnosis of lymphangiomyomatosis. At 21 years of age, she remains asymptomatic. An echography and CT scan showed the mass remaining unchanged in size and echopattern. Lymphangiomyomatosis (LMA) is thought to affect exclusively women in their reproductive life, and the steroid hormones are supposed to play an essential role in the pathology and in the behavior of this condition. Infantile LMA is exceptional. The patient reported is remarkable for her young age, the location of the tumor, her long history, and her benign course. Because the tumor is supposed to be hormone dependent, the surge of oestrogen in this 21-year-old woman may initiate the extensive form of lymphangiomyomatosis with pulmonary involvement, the prognosis of which is extremely poor.