Risk of recurrence after antiepileptic withdrawal: Was it a good decision or not?

Background: The aim of this study was to identify the demographic-clinical variables affecting idiopathic epilepsy (IE) [called genetic generalized epilepsy (GGE)] recurrence and determine cut-off values that can be used in pediatric neurology practice for children with IE/GGE. Methods: A total of 250 children and adolescents with IE/GGE were included and retrospectively evaluated. The patients' hospital records were examined in order to identify possible electro-clinical features affecting epilepsy recurrence. Results: The overall rate of recurrence in the patients was 46%; the age at onset of seizures in recurrence group was lower (P = 0.040) and the age at last seizure was higher in the recurrence group (P < 0.001) than that in the non-recurrence group. Other factors found to be related to recurrence were the shorter duration of the seizure-free period (P = 0.030), shorter interval between the last seizure and antiepileptic drug (AED) withdrawal (P = 0.003), shorter duration of AED withdrawal (P = 0.005), and the existence of abnormalities on sleep electroencephalogram (EEG) during AED withdrawal (P = 0.010) and at the 6th month of withdrawal (P < 0.001). According to receiver operating characteristic (ROC) analysis, the risk of IE recurrence was higher in children who were younger than 3.6 years old (sensitivity: 65.6%, specificity: 62.7%), children with a seizure-free period that was shorter than 35.5 months (sensitivity: 89.6%, specificity: 32.8%), and children whose drug withdrawal period was shorter than 4.5 months (sensitivity: 56.3%, specificity: 71.6%). Conclusion: This study defined some electro-clinical factors that could guide clinicians when deciding to withdraw AEDs with regard to recurrence risk after evaluating a homogenous population of children with a diagnosis of IE/GGE.

Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency.

We report a 3-month-old male with infantile hypophosphatasia who later developed Pseudotumor cerebri. At the age of 3 months, he was referred to our hospital because of pneumonia and respiratory insufficiency. He had short extremities, and radiographs of the bones were consistent with lack of metaphyseal mineralization and bowed lower extremities. Vomiting and bulging fontanelle developed 3 months after admission, and CSF opening pressure was notably high at 430 mm/H2O. Hypophosphatasia is a very rare cause of pseudotumor cerebri. This report is the first case where PTC is associated with hypophosphatasia and responded well to corticosteroid therapy.

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker-Warburg syndrome. However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family.