Endocrine autoimmunity in young patients with juvenile chronic arthritis.

OBJECTIVE: The aim of our study was to investigate the coexistence of autoimmune diseases (autoimmune thyroid disease and type 1 diabetes mellitus, T1DM) in patients affected by Juvenile Chronic Arthritis (JCA). METHODS: We studied 66 patients affected by JCA, 42 females and 24 males: 42/66 patients had a pauciarticular form of JCA, 13/66 had a polyarticular form and 11/66 had a systemic form. All the patients underwent autoimmune thyroid screening through determination of anti-thyroglobulin (TgA) and anti-peroxidase (TPOA) autoantibodies. Patients with TgA and/ or TPOA, underwent thyroid sonography. T1DM screening included determination of anti-glutamic acid decarboxylase (GADA), anti-insulin (IAA), anti-tyrosine phosphatase-like protein (IA-2A) and anti-islet cell (ICA) autoantibodies. Oral glucose tolerance test (OGTT) was performed only in patients with autoantibody positive values. HLA typing for risk of T1DM was performed in 43 patients. RESULTS: Nine female patients (14%) showed anti-thyroid autoantibodies, in particular: TgA in 3 cases, TPOA in 5, TgA and TPOA in only 1. In 3 of these patients, ultrasound examinations showed thyroid abnormal pattern, suggesting Hashimoto's thyroiditis. As regards T1DM, only 2 patients showed positive levels of GADA. As regards HLA typing, one or more T1DM susceptibility heterodimers were detected in 20 patients (46%) (13 with 1 heterodimer, 7 with 2 heterodimers). CONCLUSION: Our study showed that anti-thyroid autoantibody frequency (9/66, 14%) was higher in JCA than in the general population, while T1DM markers (islet autoantibodies and genetic markers) were not frequent. These results suggest to investigate specific markers of thyroid autoimmunity in patients with JCA, in particular in females with JCA pauciarticular form.

[Thrombocytopenia, arthritis and enteropathy: a casual association or the expression of a unique entity?]. / Trombocitopenia, artrite, enteropatia: associazione occasionale o espressione di un'unica entità?

The arthropathy of inflammatory bowel disease (IBD) is a noninfectious arthritis occurring before or during the course of either regional enteritis or ulcerative colitis. Two patterns of joint disease are described: a chronic asymmetric oligoarthritis affecting peripheral joints, and a spondylo-sacroiliitis similar to the idiopathic type. Different criteria for diagnosis and classification (ACR and EULAR) of arthropathies associated with IBD are used and this is not helpful in order to a correct nosography. An unusual case of ulcerative colitis with thrombocytopenia and oligoarticular arthritis at onset, 4 and 2 years before the assessment of IBD, is reported. Moreover the arthritis had characteristics much more similar to a juvenile chronic arthritis (JCA) with pauciarticular onset of type I (FR-; ANA+) than to an enteropathic arthropathy.

[The use of n-3 fatty acids in chronic juvenile arthritis]. / Impiego degli acidi grassi n-3 nell'artrite cronica giovanile (ACG).

Juvenile Chronic Arthritis (JCA) is a chronic disease still lacking of a complete therapeutic solution. Therapy traditionally used consists of non steroidal anti-inflammatory drugs and in some selected cases of gold salt and immuno-suppressive agents. Recently it has been described the possibility of a dietary supplementation of n-3 fatty acids in addition to conventional pharmacotherapy. The aim of our study is to demonstrate the real efficacy of this dietary supplementation on JCA symptoms. The group of 16 patients treated, compared to a control group of 16 patients, has shown a significative decrease of CRP.

[Dichloromethylenbiphosphonic acid in the therapy of myositis ossificans progressive (MOP)]. / L'acido diclorometilenbifosfonico nella terapia della miosite ossificante progressiva.

The authors report 3 cases of myositis ossificans progressiva (MOP) treated with i.v. dichloromethylenbiphosphonic acid. Two of these patients presented a severe development of the disease so that they could not walk anymore. After a few months of treatment with dichloromethylenbiphosphonic acid (300 mg/die for 10 continual days every month) sufficient recovery in motor capacity was achieved that walking was possible again. The favourable effect of therapy has been shown only by clinical features because there is no biological marker to monitor in the follow-up. During the treatment no side effect or modification of the markers of liver and kidney activity was observed.

[18q syndrome with deficiency of myelin basic protein (MBP)]. / Sindrome 18q- con carenza di myelin basic protein (MBP).

The Authors present a patient with 18q- Syndrome in which lymphatic cell karyotype could resume development of extrapyramidal degeneration signs before they appeared. Severity range of phenotypic manifestations in the 18q- syndrome is correlated with chromosomic breakpoint and with genetic background. Many chromosome 18's distal arm genes have been mapped Myelin Basic Protein gene (MBP) has been located in 22-23 position; it forms about 30-40% of myelinic sheath proteins. Failure in MBP gene expression would be correlated in the central white matter with extrapyramidal system degeneration signs: in 18q- patients with involuntary movements studied by MRI or by post-mortem autopsy unmyelinated areas in central white matter tracts have been put in evidence. As MBP absence in peripheral nervous system does not appear to have a functional effect, it has been suggested that some specific component of peripheral myelin is functionally equivalent to MBP and capable to substitute this protein in its absence.

[Mammary duct ectasia in children]. / Ectasia duttale mammaria infantile.

Authors describe two uncommon cases of infantile mammary duct ectasia (EDM). This disease, first reported in 1983, is characterized by dilatation of the subareolar duct system, and by phlogistic reaction and fibrosis. In the medical literature only 8 cases have been reported, but probably its frequency is undervalued due to the scarce general knowledge of this pathology. The differential diagnosis is reviewed.

Magnetic resonance imaging in right hemisphere cerebellitis associated with homolateral hemiparesis.

We present a sequence of magnetic resonance images (MRI) of a patient with cerebellitis, taken from the onset of symptoms until their disappearance 9 months later. The need to perform MRI rather than computed tomography in all patients suspected of having cerebellitis or other posterior fossa lesions is suggested.

[A case of organic psychosis in dermatomyositis. Etiopathogenetic hypothesis]. / Un caso di psicosi organica in corso di dermatomiosite. Ipotesi eziopathogenetiche.

The authors describe a girl affected by dermatomyositis, with a quick and grave evolution, which required urgent tracheostomy to reduce the dysphagic symptoms. During the observation the patient showed psychotic symptoms. After the revision of literature, in which no such complication has ever been described, the authors propose an etiopathogenetic interpretation for a generalized acute psycho-organic syndrome, supposing a cerebral hypoxic damage, as vasculitic manifestation, probably complicated by symptoms of hysterical conversion, due to the isolation of the patient in the Department of Intensive Therapy and to the severe physical conditions.

[Cognitive and affective aspects of psychomotor assessment of myodystrophic children with the aim of specific treatment]. / Gli aspetti cognitivi ed affettivi del bilancio psicomotorio del bambino miodistrofico ai fini di un trattamento mirato.

The aim of this study was to evaluate the incidence of cognitive and affective problems in the treatment of children suffering from myodystrophy. It was hypothesised that psychomotory assessment taking appropriate account of data regarding the evaluation of cognitive and affective development might allow an adequate and realistic therapeutic protocol to be defined. For this purpose the authors examined 55 myodystrophic patients aged between 6 and 10 years old during the period January 1980 and June 1993 using traditional psychomotory tests (Stanford-Binet and/or WISC in relation to the various age groups), projective tests (CAT, TAT) and graphic tests. The latter were also evaluated according to Koppitz's criterion which enabled emotional indicators (EI) to be assessed. All 55 cases were evaluated in collaboration with the 1st Pediatric Clinic of the Neuro-Psychomotory Unit of "G. Gaslini" Institute. Psychomotory treatment, which by definition is addressed to the entire person, specifically took cognitive and affective data into consideration. In fact, as observed by Johnson and Alexander, in myodystrophy functional skills are more often limited by cognitive and motivational factors than by actual menomation. The results showed that the concentration on psychological aspects in the rehabilitation of myodystrophic children allows the neuropsychological component of movement (practognosia) to be preserved for as long as possible despite the progress of instrumental deficit (anatomic degeneration). In the authors' experience and in comparison to that of other Authors, it was possible to state that a "personalized" approach allows the subjects to improve their own "presence in the world".

[Muscle phosphorylase deficiency in childhood. A case report]. / Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico.

Myophosphorylase deficiency or McArdle's disease is rarely recognized in childhood. The onset is generally in adolescence or in adult age with exercise intolerance, muscle cramps and myoglobinuria. Two siblings of 6 and 2 years of age are described. The first patient showed early fatigue and both had elevated CK levels. Morphological and biochemical studies of muscle biopsies revealed a defect of myophosphorylase.

Multicenter study of childhood headache.

This multicenter study reports the results obtained between 1990 and 1991 by the Study Group for Childhood Headache of the Italian Neuropediatric Society. Standardized computerized case sheets were used in order to increase the number of young patients studied and obtain more homogeneous results. A clinical diagnosis of headache was made in 600 patients (314 female and 286 male) between 4 and 12 years of age, in accordance with the classification set down by the International Headache Society. Clinical symptoms and follow-up were more severe in children with migraine as opposed to headache. No sequence of associated neurological and neurovegetative symptoms was observed at onset of headache, and some (phono-photophobia, pallor, drowsiness, abdominal pains) were much more prevalent than others. Because of the patient's age we studied only the treatment of acute attack and did not take account of chronic treatment. In childhood the clinical course of primary headache tends to improve spontaneously, and we believe that prevention of headache attacks should be carried out only in very rare individual cases.

[Williams syndrome. Considerations on an unusual case]. / Sindrome di Williams. Considerazioni su un caso insolito.

We report one case of WS, who came at our first observation at age of eight for mental retardation and congenial cardiopathy of unknown origin. Echocardiography and Doppler examination showed immediately isthmic aortic stenosis, and therefore aortic plastic surgery was performed, with a good post-operative result. The case aroused the interest of the Authors, owing to the late diagnosis of aortic coarctation, which, however, did not produce hemodynamic alteration.

Functional enuresis: pharmacological versus behavioral treatment.

Treatment of childhood enuresis requires a careful anamnesis, physical examination, urinalysis, and urine culture to determine if a subject is affected with functional or organic enuresis. Functional enuresis (FE) was present in the majority of our patients (168/204). These 168 subjects, aged from 6 to 11 years, were randomly divided into three therapy groups (pharmacological therapy, behavioral therapy, and behavioral therapy with the aid of a personal computer). Our study shows that behavioral therapy gave better results in FE than did pharmacological therapy. We point out the usefulness of combining bladder retention training and behavioral therapy to improve the general maturity and autonomous behavior of the child, and the resultant positive effects on his personality.

[Ranitidine in primary peptic ulcer in childhood complicated by acute hemorrhage]. / La ranitidina nell'ulcera peptica primitiva dell'infanzia complicata da emorragia acuta.

The authors shortly report on the frequency and the peculiar clinical picture in the paediatric age. The usefulness of the pharmacological control (Ranitidine i.v. 50 mg thrice for 3 days) of acute haemorrhagic compliances is discussed in reference to the patient. The same drug was continued per os for two month at a dosage of 150 mg twice daily followed by 150 once daily for 8 months; during this period no relapses were observed and an endoscopic control did show the anatomical recovery of the ulcer. The authors underline also the good compliance and the absence of side effects of the drug employed.