ABSTRACT
Thyroid hormone resistance (RTH) is characterized by a decreased sensitivity of target tissues to thyroid hormones due to a defect in the THRα- and THRβ-encoded thyroid hormone receptors (THRs). The clinical manifestations range from no symptoms to simple goiter and hypo- or hyperthyroidism, depending on the receptor subtype distribution in the tissues. Here, we report the case of a thyroid hormone-resistant 12-month-old boy carrying a novel THRβ variant who was initially diagnosed with congenital hypothyroidism. An extensive evaluation revealed increased free T4 level and inappropriately increased thyroid-stimulating hormone (TSH) level; a normal lipid profile, sex hormone-binding globulin, and free alpha subunit of TSH; exaggerated TSH response to THR; and no radiological evidence of pituitary adenoma. A targeted next-generation sequencing panel identified a heterozygote c.993T>G (p.Asn331Lys) mutation in the THRβ gene. During the first year of life, a higher dose of levothyroxine was administered to the patient due to uncompensated RTH. Levothyroxine treatment was continued after 3 years to maintain TSH level <5 mIU/mL, but the observed weight gain was poor, height increase was insufficient, and bone development was delayed. However, neither hyperactivity nor developmental delay was observed. Patients with RTH exhibit various clinical features. Due to its heterogeneous nature, genetic test for accurate diagnosis is important to provide proper management.
ABSTRACT
PURPOSE: Febrile seizures are common in children between the ages of 6 months and 5 years of age and are often caused by viral illnesses. Influenza infection presents with a variety of neurological conditions including seizures. This study was aimed to evaluate the correlation of influenza infection and febrile seizures. METHODS: Eighty-four children with febrile seizures were involved in the study from October 2013 to March 2014. They were divided into two groups (febrile seizures with influenza infection, febrile seizures without influenza infection). Their medical records including clinical characteristics such as seizure types, seizure frequency, seizure duration, developmental history, brain magnetic resonance imaging(MRI), cerebrospinal fluid(CSF) study and electroencephalogram(EEG) findings were reviewed. RESULTS: Twenty six out of 242 children between the ages of 6 months and 5 years diagnosed with influenza infection had febrile seizures (10.7%), which is higher than known prevalence of febrile seizures. There were no significant differences in clinical characteristics such as seizure types, seizure frequency, seizure duration, developmental history, brain MRI, CSF study and EEG findings between the two groups. However, onset age of febrile seizures with influenza infection was older than the other group without influenza infection(P<0.001). CONCLUSION: It has been considered that influenza infections are common during the cold seasons and are the main causative factor for febrile seizures. Based on the findings from this study, Influenza infection may be a significant risk factor for febrile seizures. However, further studies are needed.