Bone single photon emission computed tomography(SPECT) of the knees has been shown to be of diagnostic value for the investigation of intemal derangement of knees(IDK). This study compared bone SPECT and magnetic resonance image(MRI) with arthroscopic findings for the diagnosis of IDK. Fifty patients who had been performed arthroscopy in Seoul National University Hospital from January 1997 to September 1997 were studied with both the modalities preoperatively. There were 38 meniscal injuries, 26 cruciate ligament injuries and 8 cases of patellofemoral joint problems. In view of SPECT, the most remarkable results were from meniscal tears. In meniscal tears, the diagnostic values of SPECT were 89.5% of sensitivity, 66.7% of specificity, 84% of diagnostic accuracy, which were comparable to those of MRI, 97.4%, 91.7% and 96%, respectively. But SPECT showed inferior diagnostic values in cruciate ligament injuries. For anterior knee pain, SPECT was more sensitive than MRI for the detection of pathology. And for functionally related cases, such as ACL impingement to intercondylar notch, SPECT was far more valuable than MRI. Bone SPECT will not provide the anatomical detail of MRI but seems to be a useful tool for the detection of wide range of knee disorders including IDK. Further research is justified to investigate the precise role of bone SPECT in clinical practice and its value in relation to MRI.
Arthroscopy ; Diagnosis ; Humans ; Knee* ; Ligaments ; Magnetic Resonance Imaging* ; Patellofemoral Joint ; Pathology ; Sensitivity and Specificity ; Seoul ; Tomography, Emission-Computed, Single-Photon*

Incontinentia pigmenti(IP), so called Bloch-Sulzberger syndrome is a rare hereditary neurocutaneous syndrome and was described first by Bardach in l925. This disorder is known as a systemic disease caused by a defect at the developmental stage of organs originated from ectoderm or mesoderm. Incontinentia pigmenti is presented by characteristic linear hyperpigmented skin lesions, often associated with central nervous system involvement, dysplasia in the dental system, and ocular abnormalities. This disorder occurs almost in female infants, usually lethal in males, inherited as X-linked dominantly. Thirty percent of the patients suffer from central nervous system complications such as mental retardation, encephalopathy, delayed development, seizure, spastic paralysis and microcephaly. We report a case of a 12 month-old female with incontinentia pigmenti who was hospitalized with linear hyperpigmented skin lesions and delayed development.
Central Nervous System ; Ectoderm ; Female ; Humans ; Incontinentia Pigmenti ; Infant ; Intellectual Disability ; Male ; Mesoderm ; Microcephaly ; Muscle Spasticity ; Neurocutaneous Syndromes ; Paralysis ; Seizures ; Skin

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.