[Diagnosis of pediatric multiple sclerosis initially presenting with tumefactive demyelinating lesion using ¹H-magnetic resonance spectroscopy].

We report a case of tumefactive demyelinating lesion (TDL) diagnosed using (1)H-magnetic resonance spectroscopy (¹H-MRS) and conventional magnetic resonance imaging (MRI). A 7-year-old girl was admitted to our hospital with complaints of sleepiness and clumsiness of the right limbs. Neurological examination showed somnolence, right-sided apraxia, and hemiparesis with enhanced tendon reflexes and Babinski sign.

Efficacy of thalidomide in a girl with inflammatory calcinosis, a severe complication of juvenile dermatomyositis.

We report a 14-year-old girl with juvenile dermatomyositis (JDM) complicated by severe inflammatory calcinosis successfully treated with thalidomide. She was diagnosed as JDM when she was 4 years old after a few months of increasing lethargy, muscle pain, muscle weakness, and rash. During three months, clinical manifestations and abnormal laboratory findings were effectively treated with oral prednisolone.

[Infliximab for a girl with refractory pyoderma gangrenosum].

Pyoderma gangrenosum is a rare chronic ulcerative noninfectious disease of the skin. Half of patients are complicated with other autoimmune diseases, most commonly inflammatory bowel disease, Takayasu disease, and rheumatoid arthritis. It has been reported that approximately 4% of them were childhood-onset.

[Gastrointestinal involvement and renal infarction in a boy with classic polyarteritis nodosa diagnosed with 3D-computed tomography angiography].

We report a case of classic polyarteritis nodosa complicated with renal infarction. A 14-year-old boy manifested fever, abdominal pain, watery and bloody diarrhea, and weight loss. Laboratory findings indicated anemia, increased levels of C-reactive protein, and erythrocyte sedimentation rate.

[Two female siblings with childhood-onset systemic lupus erythematosus].

We herein report two female siblings with childhood-onset Systemic Lupus Erythematosus (SLE) who developed membranous lupus nephritis. The children were diagnosed as having SLE in reverse birth order at ages 11 and 14 years. Younger sister's initial symptom was edema and laboratory findings indicated proteinuria, hypocomplementemia and positive ANA/anti-dsDNA antibody.

Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations.

We observed a patient with X-linked severe combined immunodeficiency (X-SCID) with Omenn syndrome-like manifestations. X-linked inheritance, absence of CD132 expression and impaired response to interleukin-2 (IL-2) indicated that the case is typical of X-SCID due to gamma(c) defect. However, this case was unusual in that circulating natural killer (NK) cells were increased and nearly half of these NK cells exhibited the CD56(bright) CD16(-) phenotype.