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The aim of this study was to describe the clinical manifestations and outcomes of a national cohort of childhood systemic lupus erythematosus (cSLE). All cases of cSLE registered in the Israeli national registry of children with rheumatic diseases between 1987-2003 were examined for disease activity and damage by the SLE disease activity index (SLEDAI) and SLE collaborating clinics/American College of Rheumatology (SLICC/ACR) damage index. Demographic, clinical, laboratory and treatment factors were analysed for their effect on the outcome. One-hundred and two patients were identified, 81% females, with a mean age at diagnosis of 13.3 +/- 2.6 years. The mean SLEDAI score was 17.2 +/- 9.0 (range 2-60). Fifty four patients were followed for at least five years. The mean SLEDAI decreased to 7.6 +/- 6.3 (0-29) and the mean SLICC/ACR damage index was 0.7 +/- 1.6 (0-8). Five patients developed chronic renal failure. No patients died. No factors were found to be significantly associated with the outcome except the initial SLEDAI score. The five-year outcome of our national cSLE cohort was good; with relatively low activity and minimal damage in most patients. The initial SLEDAI predicted the development of late damage.

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A young patient with familial Mediterranean fever (FMF) developed leukopenia each time she took colchicine. However, when she discontinued the drug the white cell and the platelets counts increased but she experienced FMF attacks. Later it was found that the patient also had concomitant cytomegalovirus (CMV) infection. This complex situation posed several diagnostic and therapeutic issues concerning the real cause for the leukopenia and the possible approach to take in such conditions. We propose that when an essential drug (such as colchicine for FMF) causes leukopenia, one should look for concurrent CMV or another viral infection. If there is no such infection, it is suggested that the mechanism leading to leukopenia be clarified. In the case of bone marrow suppression, colchicine should be continued with injections of G-CSF, whereas if the bone marrow is hypercellular it is suggested to use steroids and colchicine concomitantly.

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OBJECTIVE: To determine whether there is a seasonal peak onset of systemic juvenile rheumatoid arthritis (SOJRA) suggestive of an infectious etiology. We examined the seasonal variability of SOJRA in Israel. METHODS: A multicenter retrospective chart review of 59 patients with SOJRA, enrolled from 10 rheumatology units or pediatric departments in Israel. All patients met defined criteria of SOJRA. RESULTS: Fifty-nine patients (31 female, 28 male) were followed from 1982 to 1997. Their mean age was 7.1 +/- 4.3 years (range 0.9-16). Forty-six were Jewish and 13 were Arabs or of Bedouin origin. Eighteen patients (31%) had disease onset in the winter, 16 (27%) in the spring, 12 (20%) in the summer, and 13 (22%) in the fall. Twenty-eight patients had a monophasic disease subtype, while 31 had a chronic or cyclic subtype. The seasonal onset in the patients with the monophasic type versus the chronic or the cyclic type shows 7 versus 11 in the winter, 7 versus 9 in spring, 8 versus 4 in summer, and 6 versus 7 in fall, respectively. CONCLUSION: There is no seasonal pattern to SOJRA disease onset in Israel. However, the disease onset of patients having the chronic or the polycyclic subtype tends to be more common in winter and spring. Since patients with this type have more severe disease, it is possible that another specific infectious agent is one of the factors involved in the pathogenesis of the disease. Larger sampling and multicenter studies are required to clarify this point.

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We report a new mutation, an A-->T transition at nt 3243 in the mitochondrial tRNA(leu)(UUR) gene, in a 9-year-old girl who presented with muscle weakness of 3 years duration complicated by rapidly progressive encephalopathy. In muscle, the activity of the mitochondrial respiratory chain complexes I, III, and IV was markedly reduced. The mutation, involving a highly conserved base pair in the dihydrouridine loop, was heteroplasmic in muscle (81.4%), skin (69.3%), and blood (13.8%) and was not present in blood of 50 healthy individuals. The mitochondrial 3243 base is a "hot spot" for mutations; an A-->G transition at this position is found in a high proportion in most MELAS patients. Since the A-->T transition creates a new recognition site for the restriction enzyme TspRI, both ApaI and TspRI should be used to exclude a mutation at nt 3243.

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Systemic lupus erythematosus (SLE) is a rare disease in children that might possibly be modulated by genetic and environmental factors. In order to delineate the characteristic features of SLE among Israeli children, we reviewed the medical records of 38 cases from 8 pediatric rheumatology clinics. All fulfilled the 1982 American Rheumatism Association revised criteria for SLE. The illness became apparent at the age of 16 years or younger and the mean age of onset was 11.9 +/- 2.4 y (range 7-16) and the mean duration of follow-up 4.0 +/- 4.8 y (range 0.5-15). The female to male ratio was 2.8:1; 28 were Jewish and 10 Arabs. Systemic complaints, such as fever, malaise and weight loss, were noted in 90%, malar rash in 65%, and other skin manifestations in 40%. Arthritis was noted in 57% and additional musculoskeletal complaints in 70%; 90% had hematological abnormalities. Major organ system involvement included: renal disease in 50% pulmonary involvement 28% and CNS involvement 28%. 2 patients are currently on renal dialysis and 1 died from hypertensive crisis. We conclude that the features of SLE in children in Israel are not influenced by ethnic or geographic factors, and are similar to those reported worldwide.

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Although pulmonary symptoms accompany up to 16% of cases of infection with Brucella melitensis, pleural effusion has rarely been reported. A 12 year old girl had brucellosis with pulmonary disease and a pleural effusion. The pleural fluid was clear and straw coloured with 2700 leucocytes/mm3 (93% lymphocytes), a protein level of 48 g/1, and a glucose concentration of 4.1 mmol/l. Culture of the pleural fluid grew Br melitensis.

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Progressive systemic sclerosis sine scleroderma, as well as neurological manifestations of progressive systemic sclerosis are rare in adult-onset cases. Neither have been reported in children with progressive systemic sclerosis, either separately or together. We describe a six-year-old girl with nocturnal seizures and Raynaud's phenomenon of three years' duration. She died of cardiopulmonary sclerosis without ever fitting the required criteria of systemic sclerosis. Nailfold capillaroscopy revealed the specific "scleroderma-pattern" and provided the only clue for a diagnosis of progressive systemic sclerosis, confirmed eventually by skin biopsy.

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Celiac disease (CD) is characterized by diarrhea, growth retardation, and weight loss in genetically susceptible subjects on a gluten-containing diet. The exact pathogenesis of CD is still obscure, but it is considered to be immunologically mediated. We have previously shown elevated prostaglandin E2 (PGE2) and thromboxane B2 (TxB2) content in small intestinal mucosa obtained from active celiac children. In the present study, we found significantly elevated PGE2, leukotriene B4 (LTB4), and leukotrienes C4, D4, and E4 (LTC4D4E4) content in small bowel mucosa from children suffering from CD on a gluten-containing diet in comparison to control subjects. PGE2 was 25,278 +/- 7,761 vs. 4,478 +/- 426 pg/mg of protein (mean +/- SEM), respectively. LTB4 was 8,807 +/- 3,706 vs. 403 +/- 63 pg/mg of protein (mean +/- SEM), respectively. LTC4D4E4 was 15,369 +/- 4,085 vs. 2,998 +/- 279 pg/mg of protein (mean +/- SEM), respectively. We conclude that the elevated content of arachidonic acid metabolic products via cyclooxygenase and lipoxygenase pathways may contribute to the diarrhea and may be involved in the pathogenesis of mucosal injury.

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Raynaud's phenomenon, uncommon in childhood, often heralds connective tissue disorder. Since microvascular abnormalities can be detected at an early stage of the connective tissue disease, especially in scleroderma, a specific diagnosis can be made in patients presenting with Raynaud's phenomenon alone or Raynaud's phenomenon associated with symptoms suggestive of connective tissue disease. Raynaud's phenomenon was studied in 11 consecutive children, 10 girls and 1 boy, ages 6 to 15. One child had a definite diagnosis of cutaneous polyarteritis nodosa. In 6 others connective tissue disease was suspected: 4 had arthritis, 2 has telangiectasia, leg ulcers and antinuclear antibodies. Of the remaining 4, one had hemiplegia and 3 Raynaud's phenomenon only. Oscillometry of the radial artery was reduced in 7 of 9. Decreased capillary resistance was found in 2 of 6, while abrupt thinning in conjunctival vessels was seen in 3 of 7. On nailfold capillaroscopy, reduced vascularity was noted in 5 of 11, dilated capillaries in 4 of 11, tortuousity in 2 of 11, capillary thinning in 1 of 11, capillary spasm in 1 of 11 and normal pattern in 3 of 11. Two patients presenting with Raynaud's phenomenon were found to have "scleroderma-like pattern" on nailfold capillaroscopy. One of them died 2 years later of cardiopulmonary sclerosis, and another developed esophageal stricture and Barrett's esophagus. Neither has sclerodermatous skin. In childhood Raynaud's phenomenon, nailfold capillaroscopy is a non-invasive examination enabling early diagnosis of "systemic scleroderma sine scleroderma".

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We describe a 12-year-old girl with Raynaud's phenomenon (RP) of 3 years' duration, who developed Barrett's esophagus with severe stricture. Barrett's esophagus complicating progressive systemic sclerosis has been reported in adult patients, but not in childhood. Barrett's esophagus following RP alone has not been reported, to the best of our knowledge, in any age group.

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We present the results of light and electron microscopy studies of the liver in an 8-year-old girl with congenital total lipodystrophy. Liver histology revealed cirrhosis, and ultrastructural study showed mitochondrial abnormalities and an increase in the number of peroxisomes. A potential relationship between the high fatty acid concentration in the serum and the peroxisomal proliferation is considered.

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A rare syndrome comprising midfacial hypoplasia, lack of anterior nasal spine, and malocclusion is described. To the best of our knowledge, only sporadic cases with a similar cluster of defects have been reported, usually with the appellation of Binder syndrome. We describe an affected mother and daughter, thus suggesting a dominant mode of inheritance.

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Night terrors and somnambulism (NTS) are defined as disorders of arousal occurring in children during Stage 3 to 4 of NREM (non-rapid eye movement) sleep. In this study, the interictal EEG recordings in 35 neurologically normal children with clinical NTS were studied. Sixteen children (47%) had disturbed records including: localized slow, spike or sharp wave activity; generalized bursts of high voltage, sharp waves, spikes and slow delta activity or spike and wave complexes; and episodic high-voltage delta activity during wakeful rest. This percentage represents half the incidence of interictal EEG abnormalities in childhood epilepsy, but far greater than the 10 to 15% found in healthy children.

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A 2 1/2-month-old infant suffering from pyrexia, purpura, hepatosplenomegaly, pancytopenia and hyperlipidemia is reported. Liver and spleen biopsies revealed mononuclear histiocytic infiltration with marked erythrophagocytosis. The girl died at 7 1/2 months of age. Her brother died in infancy with an analogous clinical picture. The parents were first cousins. The clinical presentation and laboratory findings are consistent with the diagnosis of familial erythrophagocytic lymphohistiocytosis.

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