Brainstem dysgenesis: beyond Moebius syndrome.

Brainstem dysgenesis designates all those patients with congenital dysfunction of cranial nerves and muscle tone due to prenatal lesions or malformations of the brainstem. This generic term has the advantage over the eponyms Moebius 'expanded' or 'unrestricted', Robin, Cogan or Carey-Fineman-Ziter syndromes in that it has a less restrictive view and provides a frame work that enables a systematic approach to diagnosis and research of most developmental disorders involving the brainstem. The review of the literature and our experience shows that infants with a predominant rombencephalic involvement are due to brainstem prenatal disruptive vascular accidents, while cases with midbrain and cerebellar involvement and widespread malformative syndromes have most likely an underlying genetic cause.

[Concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly].

Introduction: Our aim was to investigate the correlations between patterns of head growth and intellectual disability among distinct aetiological presentations of microcephaly.

Patients And Methods: 3,269 head circumference (HC) charts of patients from a tertiary neuropediatric unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC measurements we defined the variables: HC Minimum, HC Drop and HC Catch-up.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Background: Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In order to unveil some of the mechanisms involved in this pathology and to identify potential biomarkers and therapeutic targets we have investigated the gene expression profile of human skeletal muscle deficient for TK2 using cDNA microarrays.

Results: We have analysed the whole transcriptome of skeletal muscle from patients with TK2 mutations and compared it to normal muscle and to muscle from patients with other mitochondrial myopathies.

Brainstem dysgenesis during the neonatal period: diagnosis and management.

Aims: To report our neonatal management experience in patients who received a diagnosis of brainstem dysgenesis (BSD).

Patients And Methods: This study retrospectively reviewed the medical records of 15 neonates with BSD diagnosed between 1984 and 2011. Data on the perinatal period, physical examination, laboratory findings, and management by systems were systematically analyzed.

[Reversible encephalopathy caused by valproic acid in an adolescent with idiopathic generalised epilepsy].

Introduction: Encephalopathy due to valproic acid (VPA) is a rare complication leading to a disorder that affects the patient's mental status to a greater or lesser extent and which can be accompanied by a paradoxical worsening of the seizures. The diagnosis is obvious when it appears within the context of hyperammonemia or a liver pathology, but can be difficult to diagnose if it appears in isolation in patients who show no other signs of intoxication due to VPA.

Case Report: We report the case of an adolescent who suffered idiopathic generalised epilepsy and presented sub-acute cognitive impairment and a worsening of his pattern of seizures some months after starting treatment with VPA.