Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism.

Aim: The aim of the study was to characterize seizures and epilepsy related to hypoglycaemia.

Method: We analyzed the files of 170 consecutive patients referred for hypoglycaemia (onset 1h to 4y) caused by inborn errors of metabolism (glycogen storage disease type I, fatty acid β-oxidation disorders, and hyperinsulinism).

Results: Ninety patients (42 males and 48 females; 38 neonates and 52 infants/children) had brief hypoglycaemic seizures (68%) or status epilepticus (32%).

Respiratory chain deficiencies.

Mitochondrial functions are intimately associated with neurological symptoms. Various clinical and biological features are suggestive of energy depletion diseases, such as Leigh syndrome, Alpers syndrome, epilepsy (including myoclonic seizures and status epilepticus), stroke-like episodes, and acute cerebellar ataxia with high lactate peaks on magnetic resonance spectroscopy. Magnetic resonance imaging (MRI) discloses abnormalities in over 90% of the cases presenting with neurological symptoms.

Epileptic phenotypes in children with respiratory chain disorders.

Purpose: Epilepsy is a commonly reported but rarely described clinical hallmark of mitochondrial respiratory chain defects (RCDs) with encephalopathy.

Methods: From 1990-2006 we collected data about 56 children with RCD (single, n = 24 or multiple, n = 20 mitochondrial complex deficiencies; mtDNA mutation, n = 11; mtDNA depletion n = 10 of 21; and nuclear gene mutation n = 11). Epileptic features were reviewed retrospectively.

Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?

The purpose of this study was to report patients with pharmacoresistant West syndrome of unknown cause whose magnetic resonance imaging (MRI) with diffusion weighted imaging (DWI) showed a transient decrease of diffusion in subcortical structures. Of 20 patients investigated over a 2-year period, three males and three females constitute the present series. They had daily clusters of infantile spasms with hypsarrhythmia for 4 to 24 months before the first investigation.

Neonatal hyperinsulinism: clinicopathologic correlation.

Neonatal hyperinsulinism is a life-threatening disease that, when treated by total pancreatectomy, leads to diabetes and pancreatic insufficiency. A more conservative approach is now possible since the separation of the disease into a nonrecurring focal form, which is cured by partial surgery, and a diffuse form, which necessitates total pancreas removal only in cases of medical treatment failure. The pathogenesis of the disease is now divided into K-channel disease (hyperinsulinemic hypoglycemia, familial [HHF] 1 and 2), which can mandate surgery, and other metabolic causes, HHF 3 to 6, which are treated medically in most patients.

Respiratory chain defects may present only with hypoglycemia.

Hypoglycemia occasionally results from oxidative phosphorylation deficiency, associated with liver failure. Conversely, in some cases of respiratory chain defect, the impairment in glucose metabolism occurs with normal hepatic function. The mechanism for this hypoglycemia remains poorly understood.

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propionyl-CoA.

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.

While there have been major advances in both the identification of the molecular basis and our understanding of mitochondrial pathology, the clinical management of patients with mitochondrial respiratory chain disease is still essentially supportive. Quinones are the only pharmacological agents that have proven some efficacy when, and only when, given to patients presenting with quite specific respiratory chain defects. In this article, after a short presentation of the coenzyme Q(10) molecule, its origin and distribution in human body, we summarize our present knowledge on its several physiological functions.

Liver transplantation in propionic acidaemia.

Despite the improvement in dietary therapy during the past 20 years, the overall outcome of severe forms of propionic acidaemia (PA) remains often disappointing. Good results can be obtained at a very high price in terms of medical attention, family burden and high cost. In most early onset forms of PA, the intake of natural protein must be rigidly restricted to 8-12 g/day for the first 3 years of life, and then slowly increased to 15-20 g/day by the age of 6-8 years.

Liver transplantation in urea cycle disorders.

We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymatically characterized in our laboratory. We also include in this report four personal patients (two with OTC and two with citrullinaemia) who were liver transplanted, and one OTC patient from the National French survey.

Clinical relevance of loss heterozygosity of the short arm of chromosome 1 in neuroblastoma: a single-institution study.

Neuroblastoma is characterized by a wide variability of its clinical course, and considerable effort has been made to identify factors determining outcome in this disease. In a series of 82 patients from a single institution, we have investigated the prognostic impact of multiple clinical, biological and genetic parameters. Univariate testing showed that advanced stage of disease, abdominal localization of the primary tumor, elevated urinary dopamine levels, N-myc amplification (NMA) and loss of heterozygosity of chromosome lp (LOH lp) were related to a poor outcome.