A Case of Myotubular Myopathy

The term myotubular myopathy (MTM) implies a maturational arrest of fetal muscle during the myotubular stage of development at 8-15 weeks of gestation. Characteristic muscle histopathology consists of small hypotrophic muscle fibers with centrally placed nuclei and a surrounding clear area devoid of myofibrils. X-linked recessive inheritance is the most common trait. Autosomal recessive and autosomal dominant forms are less frequently reported. The clinical diagnostic criterion for X-linked MTM has relied on a positive family history and the demonstration of the presence of characteristic biopsy findings from affected male subjects. Additional features may include perinatal onset, severe hypotonia, respiratory failure, dysphagia, thin ribs, contractures of the hips or knees, puffy eyelids and ophthalmoplegia. The prognosis is often fatal, and most patients die within the first year of life from respiratory failure. The authors report a case of presumed X-linked MTM with severe hypotonia, muscle weakness and respiratory failure at birth.

Age-Related Changes of MHC Class II-immunoreactive Dendritic Cells in Rat Brain / 대한소아신경학회지

PURPOSE: Dendritic cells are antigen presenting cells(APC) that express class II major histocompatibility complex gene products on their surface. Recently, it was proved that dendritic cells activate antitumor immunity for intracranial germ cell tumor. The aim of the present study is to investigate the age-related changes of MHC class II-immunoreactive dendritic cells in the rat brain. METHODS: Male rats(Sprague-Dawley) were sacrificed at 1 month, 12 months and 24 months after birth. Brains were removed and sliced in rat brain matrix. Brain slices were cryosectioned coronally at interaural 5.70-6.70 mm. Brain tissue sections were immunohistochemically reacted with monoclonal MHC class II antibody. RESULTS: MHC class II-immunoreactive dendritic cells were observed in choroid plexuses and white matter(corpus callosum, cerebral peduncle and external capsule). The number of MHC class II-immunoreactive dendritic cells was slightly increased with age. As age increases, shapes of MHC class II-immunoreactive dendritic cells became more complex and aggregated together. CONCLUSION: As age increases, MHC class II-immunoreactive dendritic cells in choroid plexuses and white matter of the brain became not only more complex in shape, but also increased in number to improve immunity.

Studies of the Change of Antibody Titers after Vaccination of Haemophilus Influenzae PRP-T Conjugate Vaccine

PURPOSE: This study was carried out to survey the serum anti-PRP titers after the completion of a primary series with 3 doses of the PRP-T conjugate vaccine(ACT-HIBTM), to evaluate the necessity of booster vaccination. METHODS: One hundred twenty healthy infants who went for consultations at Moon Hwa hospital between December 1999 to May 2001 were vaccinated at two, four and six months after birth. The serum antibody levels were measured at 7-8 months and 19-20 months of age by the "Farr" type of radioimmunological method at Aventis Pasteur International in France. RESULTS: The geometric mean of Anti-PRP titers were 24.6 microgram/mL at 7-8 months and then fell to 2.10 microgram/mL at 19-20 months. Minimum Anti-PRP titer was 0.75 microgram/mL at 7-8 months, and 0.1 microgram/mL at 19-20 months. Maximum Anti- PRP titer was 99.2 microgram/mL at 7-8 months, and 9.1 microgram/mL at 19-20 months. Subjects of Anti-PRP titers more than 0.15 microgram/mL were 100% at 7-8 months, and 97.0% at 19-20 months, and subjects of Anti-PRP titers more than 1.0 microgram/mL were 98.3% at 7-8 months, and 61.6% at 19-20 months. CONCLUSION: The Anti-PRP titers at 7-8 months were very high but rapidly decreased at 19-20 months of age, so the necessity of booster vaccination could be considered in Korean children.

Mauriac Syndrome in a Patient with Type I Diabetes Mellitus

Mauriac syndrome consists of a triad of poorly controlled diabetes, profound growth retardation and hepatomegaly. We experienced a case of Mauriac syndrome in an 18-year-old girl who had poorly controlled diabetes mellitus, short stature, hepatomegaly and central obesity. Also at the time of examination, she had complications of diabetic cataract and nephropathy. Fourteen years prior to admission, she was diagnosed as diabetes mellitus at a hospital. Thereafter, she had been managed with irregular insulin injection. On physical examination at admission, her height was 135cm(<3 percentile) and her weight was 39kg(<3 percetile). She was short and obese. The liver was 5 cm palpable below the right subcostal margin. Her sexual maturation was Tanner stage I. On ophthalmologic examination, the cataracts were observed on both eyes and diabetic retinopathy was absent. Diabetic nephropathy could not be confirrned by kidney biopsy due to her mother's refusal. We studied the hormonal, radiographic and histological abnormalities. The hormonal study was normal and the bone age was by delayed as much as 10 years. The liver biopsy revealed glycogen accumulation in hepatocyte. She was consistent with Mauriac syndrome. She was managed by strict diabetic control with insulin therapy, diabetic diet and intensive education. She was discharged with well controlled blood glucose. Five months later, growth acceleration and sexual maturation have not been observed, but hepatomegaly subsided. (J Korean Pediatr Soc 2000;43-837-841)