Toshiro Hara

Recurrent parotid swelling in children: clinical features useful for differential diagnosis of Sjögren's syndrome

Immunological evaluations were performed in 59 children with at least five episodes of parotid swelling. Autoantibody(ies) was transiently or persistently detected in 12 (20%) of 59 patients with recurrent parotitis. Three of the 12 children with autoantibodies were diagnosed as having Sjögrens syndrome. The mean age at onset of parotid swelling in Sjögrens syndrome was significantly higher than that of recurrent parotitis of unknown etiology. The present study and the review of the literature suggest that patients with the onset of parotid swelling at age five years or over deserve screening for underlying systemic immune disorders.

Outbreak of acute glomerulonephritis in children: observed association with the T1 subtype of group A streptococcal infection in northern Kyushu, Japan.

Group A streptococcal infection is associated with the occurrence of acute glomerulonephritis (AGN) and rheumatic fever (RF). A surveillance study in the Saga area, in northern Kyushu, Japan, showed a small variation in the reported number of group A streptococcal infections in the period 1988–94. However, of the AGN cases reported in this period, more than half were observed in 1992. In order to examine whether some change had occurred in the serotype distribution of Streptococcus pyogenes during the period, patients in the Saga area diagnosed as having group A streptococcal infection and patients with AGN or RF were analyzed. Serological T‐typing of S. pyogenes was carried out for patients with group A streptococcal infections, and the association between the occurrence of AGN or RF and the distribution of each different T subtype was analyzed. M‐typing of S. pyogenes was also carried out and the correlation between T and M types was examined. From 1988 to 1994, the annual number of patients with group A streptococcal infections in the Saga area showed a small variation, range 65–100 patients/year. Of the 42 patients with AGN and three with RF observed in this period, 27 with AGN (64%) and one with RF (33.3%) were detected in 1992. Only the T1 subtype increased in 1992; the other T subtypes showed little variation in incidence. The number of patients with the T1 subtype was significantly correlated with the occurrence of AGN by regression analysis (P < 0.01). Of the 170 subjects tested for both T and M subtypes, 44 of the 45 T1‐typed subjects had the M1 protein. Our epidemiological study suggested that the T1 subtype of streptococcal infection was associated with an outbreak of AGN in 1992 in the Saga area.

Severe aplastic anemia in a patient with primary immunodeficiency

This paper reports the case of a 6 year old boy with primary immunodeficiency disease, whose marrow cells showed dyshematopoietic features, that was subsequently transformed to severe aplastic anemia. He was first diagnosed as having congenital immunodeficiency comprising deficiency of immunoglobulin A (IgA), IgG2 and IgG4, depressed mitogen responses, lymphopenia with inverted CD4/CD8 ratio and an increased proportion of T‐cell receptor γ/δ‐bearing cells. Cytogenetic study of the peripheral blood showed a normal karyotype of 46, XY, but that of the marked hypoplastic marrow demonstrated one cell with monosomy 7 and another with trisomy 8 in the 20 cells examined.

A Variant Form of Hypobetalipo-proteinaemia Associated with Ataxia, Hearing Loss and Retinitis Pigmentosa

A six‐year‐old Japanese boy had ataxia, mental retardation, peripheral neuropathy, proximal myopathy, hearing loss, retinitis pigmentosa and deficiencies in apolipoprotein AI, B, CII and Oil. His clinical features except for hearing loss resembled those of abetalipoproteinaemia or symptomatic hypobetalipoproteinaemia, but his apoliproprotein abnormalities were distinct from these disorders. He had apolipoprotein B‐IOO with a normal molecular weight. Although most of his neurological manifestations were compatible with those of vitamin E deficiency, their early onset and the presence of hearing loss was unusual for that condition. There has been slight deterioration of ataxia during two years follow‐up despite high‐dose vitamin E supplementation. Other abnormalities in lipid metabolism might be associated with the neurological damage in this case.

Peripheral expansion of ωδT cell receptor-positive cells in a patient with Crohn's disease

A13 year old boy with Crohns disease had a prominent expansion (over 40%) of ωδT cell receptor‐positive cells (ωδT cells) in the peripheral blood. The ωδT cells were gradually decreased from 48 to 22% in 18 months. Anti‐ωδT cell receptor‐triggered cytotoxicity was evident at onset and after 1 year. The significance of peripheral expansion of ωδT cells in a patient with Crohns disease is discussed.

Detection of immunodeficiencies and persistent infections by urinary neopterin measurement

We evaluated the clinical significance of measurement of urinary neopterin levels in primary immunodeficiencies and persistent infections exclusively at afebrile or asymptomatic periods. Despite the examinations at afebrile or asymptomatic periods, urinary neopterin levels were elevated in some patients with primary immunodeficiencies and in patients with persistent infections of human immunodeficiency virus (HIV) or Epstein‐Barr virus (EBV). Therefore, urinary neopterin measurement at afebrile periods will be useful as one of the screening tests in the detection of such disorders among children with occasional episodes of infections.