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Summary We present the case of a new variant of congenital galactosemia (CG). This is the first child of a related couple. At birth, the child has an acute fetal distress with poor adaptation to extra-uterine life but quickly resolutive. The newborn is breastfed but the first two weeks of life are marked by poor food intake, vomiting and drowsiness. At 16 days of life, he was hospitalised and clinical examination showed a malnutrition, axial hypotonia without hepatomegaly. Laboratory tests showed moderate jaundice, hepatic cytolysis and a decrease of clotting factors. Faced with this picture of hepatocellular insufficiency, breastfeeding is immediately stopped and replaced with a lactose-free milk. Clinical and nutritional improvement was spectacular. The realization of a GC screening allows the diagnosis, confirmed by the study of the gene GALT . Genetic analysis identified a new pathogenic mutation in exon 5: c.382G>A, at a homozygous state (genotype p.[Val128Ile] + [Val128Ile]). After 4 months of treatment, the child has caught up weight, his neurological development is consistent with age but it has unfortunately bilateral cataract. The management of our patient illustrates the efficiency of the medical management and the importance of achieving early detection of this disease.

Summary We describe an accidental ecstasy poisoning in a 10-month-old girl. Case report A 10-month-old infant suddenly exhibited behavior disorders with restlessness, hypertonia, and repetitive movements. She was immediately taken to the Emergency Department. Cardiovascular (tachycardia and hypertension) and neurological disorders (major agitation, mydriasis, and nystagmus) were the predominating clinical features. The most common differential diagnoses including febrile convulsion, cranial trauma, or encephalitis were progressively ruled out. The urinary toxicological screen was positive for methamphetamine. MDMA, its main metabolite, and caffeine were subsequently detected in the infant's urine using gas chromatography/mass spectrometry. The child had completely recovered the next morning. Comment Pediatric poisoning with ecstasy remains uncommon. To date, about 10 cases have been reported. All were due to accidental ingestion. Today, the use of ecstasy is no longer restricted to recreational purposes (rave parties, etc.) and it seems to be developing in private parties and in the home. The intrusion of this amphetamine-like drug into the domestic environment may expose young children to the accidental ingestion of ecstasy tablets.

Resume Les neuropathies hereditaires avec paralysie a la pression sont des maladies rares mais non exceptionnelles chez l'enfant. Observation Jose, sept ans, a eu un episode de paralysie radiale droite isolee d'installation progressive. L'examen clinique etait normal par ailleurs. Il n'y avait pas d'antecedent neurologique dans la famille. L'electromyogramme a montre une atteinte diffuse, sensitivomotrice, constituant un aspect en « mosaiqueavec diminution des vitesses de conduction et des amplitudes et augmentation des latences distales. L'association d'une atteinte radiale isolee et d'un aspect de polyneuropathie diffuse infraclinique a permis de porter le diagnostic de neuropathie hereditaire avec paralysie a la pression qui a ete confirme par la biologic moleculaire. Conclusion Les neuropathies hereditaires avec paralysie a la pression sont le plus souvent facilement evoquees sur la clinique, l'histoire familiale et les donnees de l'electromyogramme. La biologie moleculaire confirme ie diagnostic dans la plupart des cas meme en l'absence d'antecedent familial connu et revet un grand interet dans les formes atypiques.