ABSTRACT
UNLABELLED: Sjögren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes. The main features of the disease are its association with congenital ichthyosis, mental retardation, and spastic tetraplegia. METHODS: We report on the diagnostic and therapeutic management of 2 cases of SLS. RESULTS: The diagnosis of SLS was suspected in the first patient at 2 years of age before the clinical triad appeared and confirmed at 4 years of age by the culture of fibroblasts and the peak of lipids on 1.3 ppm spectroscopy. After 3 months of treatment with zileuton, an inhibitor of leukotriene synthesis, moderate clinical efficacy for pruritus and ichthyosis was observed. The second patient was diagnosed at 1 year of age with the association of psychomotor retardation and congenital ichthyosis, in accordance with acute Guillain-Barré syndrome. Diagnosis was confirmed with enzymology, and cerebral spectro-MRI featured an abnormal lipidic peak. Zileuton therapy was initiated at the time of diagnosis and was effective for pruritus after 6 months of treatment. CONCLUSION: We report 2 cases of SLS with delayed diagnosis, due to non neonatal symptoms. Treatment with zileuton shows partial efficacy especially in pruritus. The uncommon association of this rare dysmyelinating disease with Guillain-Barré syndrome in the second patient is discussed.
Subject(s)
Sjogren-Larsson Syndrome , Female , Humans , Infant , Male , Sjogren-Larsson Syndrome/diagnosisSubject(s)
Seizures, Febrile/diagnosis , Anticonvulsants/therapeutic use , Child, Preschool , Diagnosis, Differential , Diazepam/therapeutic use , Female , Follow-Up Studies , Humans , Infant , Male , Professional-Family Relations , Referral and Consultation , Risk Factors , Secondary Prevention , Seizures, Febrile/classification , Seizures, Febrile/etiology , Seizures, Febrile/therapyABSTRACT
INTRODUCTION: The ketogenic diet is an adequate treatment for drug-resistant epilepsy and certain inborn metabolic disorders. The efficacy of the ketogenic diet for the treatment of epilepsy is now well established. In France, and more widely in Europe, there is currently no consensus concerning appropriate initiation of the ketogenic diet and subsequent patient management. METHODS: Using the same questionnaire in 2005 and 2008, we retrospectively recorded the practices of child neurology departments of the French university hospitals during three study periods (2001-2002, 2002-2003 and 2005-2008). The aim was to evaluate the number of ketogenic diets started and how the ketogenic diet was initiated. RESULTS: The ketogenic diet was widely used by pediatric neurologists. The number of patients on a ketogenic diet increased over time. Diet initiation protocols also changed over time, being modified adequately with advances in knowledge of the ketogenic diet. CONCLUSION: The French pediatric neurologists appear to have a good understanding of the ketogenic diet.
Subject(s)
Diet, Ketogenic/statistics & numerical data , Epilepsy/diet therapy , Anticonvulsants/therapeutic use , Child , Drug Resistance , Epilepsy/drug therapy , Epilepsy/epidemiology , Food, Formulated , France , Health Care Surveys , Hospitals, University , Humans , Prescriptions/statistics & numerical data , Retrospective Studies , Surveys and QuestionnairesABSTRACT
Influenza virus infections are current in viral infections of childhood. The quick test is now available and we want to assess its clinical and economical benefit through an unicentric study and during two seasons of influenza pandemic. An hospitalization avoided due to a quick test is equivalent to 20 to 30 general practitioner fixes fees. For social security, it is equivalent to 55 to 83 quick tests per child per hospitalization avoid. We plead for free test during influenza pandemic.
