ABSTRACT
No disponible
Subject(s)
Humans , Male , Infant, Newborn , False Negative Reactions , Neonatal Screening/instrumentation , Neonatal Screening/methods , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/epidemiology , Diseases in Twins/diagnosis , Early Diagnosis , Radionuclide Imaging/methods , Thyroid Diseases/diagnosis , Thyroid Diseases/drug therapy , Thyroid Gland/abnormalities , Thyroid Gland , Thyroid Gland/pathologyABSTRACT
No disponible
Subject(s)
Humans , Female , Infant, Newborn , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , 3-Hydroxysteroid Dehydrogenases/analysis , 3-Hydroxysteroid Dehydrogenases/deficiency , Neonatal Screening/instrumentation , Neonatal Screening/trends , Neonatal Screening/methods , Neonatal Screening , Hypertrophy/complications , Hypertrophy/diagnosis , Sex Differentiation/physiology , Chorionic Gonadotropin , Mutagenesis/physiologySubject(s)
Congenital Hypothyroidism/diagnosis , Diseases in Twins/diagnosis , Fetofetal Transfusion , Infant, Premature, Diseases/diagnosis , Neonatal Screening , Thyroid Function Tests , Thyroid Hormones/blood , Thyrotropin/blood , Congenital Hypothyroidism/blood , Congenital Hypothyroidism/drug therapy , Delayed Diagnosis , False Negative Reactions , Female , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/blood , Infant, Premature, Diseases/drug therapy , Male , Pregnancy , Thyroxine/therapeutic use , Twins, DizygoticSubject(s)
17-alpha-Hydroxyprogesterone/blood , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/genetics , Diagnostic Errors , Disorder of Sex Development, 46,XY/genetics , Mutation, Missense , Neonatal Screening , Point Mutation , Progesterone Reductase/genetics , Abnormalities, Multiple/genetics , Adrenal Hyperplasia, Congenital/blood , Adrenocorticotropic Hormone/pharmacology , Chorionic Gonadotropin/pharmacology , Disorder of Sex Development, 46,XY/blood , Disorder of Sex Development, 46,XY/diagnosis , Heterozygote , Hormones/blood , Humans , Infant, Newborn , Male , Testis/drug effects , Testis/metabolism , Testosterone/deficiency , Testosterone/metabolismABSTRACT
OBJECTIVE: To report our findings from a sample of narcoleptic children and adolescents evaluated in our unit from 1988 to 2005. PATIENTS AND METHODS: The sample was composed of nine children (5 boys) with a mean age of 14.5 years at diagnosis. The protocol included the following: Epworth, Ullanlinna narcolepsy scale, and Stanford cataplexy questionnaires; physical, psychological and neurological examinations; neuroimaging; PSG+MSLT recordings; HLA and in two cases Hcrt-1 level in CSF. RESULTS: Narcolepsy was sporadic in all cases. The first symptom was EDS with a mean age at onset of 9.4±2.5 years (range 6-13 years). All patients complained of cataplexy. Other symptoms were hypnagogic hallucinations (4 children) and sleep paralysis (3 children). All the children performed poorly at school, 4 had emotional disorders with depression, 4 displayed nocturnal eating and weight gain. Mean BMI was 25.0 kg/m(2). One girl was diagnosed as having precocious puberty, polycystic ovary syndrome (PCOS), hyperandrogenism and insulin resistance. The MRI showed a partial empty sella. Hcrt-1 was undetectable in her CSF. The mean Ullanlinna score was 24.6; PSG showed disturbed nocturnal sleep and the MSLT showed a mean sleep latency of 2.1 min and 3 SOREMPs. Eight children were DR2-DQ1-positive, whereas one boy was DR2-negative but DQ1-positive. In two patients, Hcrt-1 was undetectable. All children, in addition to scheduled naps during the day, were treated with modafinil or methylphenidate combined with an antidepressant and in two cases with sodium oxybate. CONCLUSION: NC was sporadic in all children and associated with precocious puberty and PCOS, hyperandrogenism and insulin resistance in one case. EDS, cataplexy, disturbed nocturnal sleep, nocturnal eating, poor school performance, and emotional disorders were the principal complaints. All patients had DQB1∗0602 and Hcrt-1 was evaluated in two cases (undetectable in both).