Publications by authors named "Kevin Perge"

4 Publications

  • Page 1 of 1

Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide.

J Pediatr Endocrinol Metab 2021 Mar 4. Epub 2021 Mar 4.

Department of Pediatric Endocrinology, HFME, Hospices Civils de Lyon, Bron, France.

Objectives: Serious hyperinsulinemic hypoglycemia (HH) is generally the main initial symptom of hyperinsulinism. Epilepsy, without any overt feature of hypoglycemia, might be a very rare initial presentation of late-onset isolated hyperinsulinism.

Case Presentation: We describe a case of late-onset HH in a 15-year-old boy with a history of idiopathic generalized epilepsy, now named genetic generalized epilepsy (IGE/GGE), beginning with a tonic-clonic seizure at the age of 11 years. Subsequently, absences with rare eyelid myoclonia were recorded on electroencephalogram (EEG), followed by episodes of impaired consciousness with facial myoclonia. Neurological status was normal except attention-deficit hyperactivity disorder (ADHD). At the age of 15 years, an episode of slight alteration of consciousness with neurovegetative signs could be recorded, which did not correspond to an absence status. Hypoglycemia due to hyperinsulinism was documented (clinically, biologically, and genetically). Diazoxide treatment resolved the glycopenic symptoms, the non-hypoglycemic seizures and normalized brain electrical activity allowing complete withdrawal of antiepileptic medication.

Conclusions: Epilepsy can be a very rare initial feature of HH starting in childhood. The occurrence of atypical features in the context of GGE as "absence statuses" with unusual vegetative symptoms and facial myoclonia might be suggestive for HH. Careful assessment and specific treatment are necessary to prevent hyperinsulinism related brain damage. Our case showed that diazoxide might also resolve seizures and normalize EEG.
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http://dx.doi.org/10.1515/jpem-2020-0381DOI Listing
March 2021

Septic Arthritis of Facet Joint in Children: A Systematic Review and a 10-year Consecutive Case Series.

Pediatr Infect Dis J 2020 Dec 23. Epub 2020 Dec 23.

From the Service d'Imagerie Médicale, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; Université Claude Bernard, Lyon 1, Lyon, France; Service d'Endocrinologie Pédiatrique et Pédiatrie Générale, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; Service de Réanimation Pédiatrique et d'Accueil des Urgences, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; Service de Chirurgie Orthopédique Traumatologique et Plastie, Hôpital Femme Mère Enfant Hospices Civils de Lyon, Bron, France; Service d'Orthopédie et Traumatologie de l'Appareil Locomoteur, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Service des Maladies Infectieuses et Tropicales, Centre de Référence des Infections Ostéoarticulaires Complexes, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Lyon, France; Équipe Pathogénie des Staphylocoques, Centre International de Recherche en Infectiologie (CIRI), INSERM U1111, CNRS UMR5308, École Normale Supérieure de Lyon, Lyon, France; and Laboratoire de Virologie et Pathologie Humaine-VirPath Team, Centre International de Recherche en Infectiologie (CIRI), INSERM U1111, CNRS UMR5308, École Normale Supérieure de Lyon, Lyon, France.

Background: Due to the low resolution of historical imaging technologies, descriptions of Septic Arthritis of Facet Joint (SAFJ) in children are scarce, though severe cases are known. We first aimed to estimate the incidence rate of SAFJ in children; we further aimed to specify SAFJ clinical, imaging and laboratory findings, and identify avenues for appropriate management.

Methods: A 10-year consecutive SAFJ case series using our imaging center database combined with a 50-year systematic review of literature cases.

Results: The mean ± SD incidence of pediatric SAFJ was 0.23 ± 0.4/100,000 children-years. The key symptoms were potty refusal (in toddlers) or painful sitting (78%) and lateralized signs (paravertebral tenderness and/or swelling, 88%). SAFJ diagnosis and extension were obtained using magnetic resonance imaging (MRI) (94%), and found an epidural extension in 8/16 cases. The mean duration of antibiotic treatment was 5.1 weeks. The compliance with guidelines was 79% for empiric and 62% for targeted antibiotic therapies.

Conclusions: SAFJ incidence in children is much greater than expected from the literature. Half of cases were complicated by an epidural infection. Simple clinical symptoms detected as early as the bedside allow a strong suspicion of SAFJ, justifying the use of a first-line MRI to confirm the diagnosis and precisely describe the extension. Focusing on simple clinical signs is key to justify the transfer of a child or the shortening of the delay to obtain an MRI. However, as MRI availability increases in most Western countries, and the capacity for diagnosis increases, the awareness of SAFJ must be spread to avoid missed cases.
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http://dx.doi.org/10.1097/INF.0000000000003031DOI Listing
December 2020

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.

Mol Syndromol 2020 Nov 2;11(4):223-227. Epub 2020 Sep 2.

Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de génétique, Bron, France.

Donohue syndrome (leprechaunism; OMIM *246200) is a rare and often lethal autosomal recessive disease caused by mutations in the gene. We report the case of a 29-year-old pregnant woman, primigravida, who was referred at 33 weeks of gestation for severe intrauterine growth restriction (IUGR). Ultrasound examination found severe IUGR associated with an obstructive hypertrophic cardiomyopathy (HCM), confirmed postnatally. The newborn's blood glucose level fluctuated from fasting hypoglycemia to postprandial hyperglycemia. The infant was found to be homozygous for a novel missense pathogenic variant, c.632C>T (p.T211l), in exon 2 of the gene, predicted to result in an abnormal insulin receptor. To our knowledge, this is the first report of leprechaunism being revealed by IUGR and HCM during the prenatal period. Clinicians should keep in mind that the association of these prenatal signs could indicate leprechaunism and specific early neonatal management could be proposed, in particular with recombinant human insulin-like growth factor-I.
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http://dx.doi.org/10.1159/000509837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675228PMC
November 2020

[Overexpression of PAX4 by gene therapy for type 1 diabetes treatment].

Med Sci (Paris) 2020 May 26;36(5):458-460. Epub 2020 May 26.

Laboratoire CarMeN, Inserm U1060, Université Claude Bernard Lyon 1, INRAE U1397, INSA-Lyon, Lyon, France Clinical Research Department, Hospices civils de Lyon, Centre hospitalier Lyon-Sud, Pierre-Bénite, France. - Do-it team, Hospices Civils de Lyon, Bâtiment CENS-ELI, CHU Lyon Sud, Lyon, France.

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http://dx.doi.org/10.1051/medsci/2020075DOI Listing
May 2020