A child with mutism after bilateral thalamic infarction.

The occurence of mutism after thalamic lesions has rarely been observed before adulthood. We report a 6.5-year-old girl who presented with sudden mutism with a decreased level of alertness. Her MRI revealed a T2-fluid attenuated inversion recovery hyperintensity in both thalami, which suggested bithalamic infarction in the territory of the thalamo-perforating arteries and, more specifically, the para-median territories. Mutism was followed by a deficit of speech initiation with slow and slurred speech. Her speech returned to normal at 3 months after the onset of symptoms. Thus mutism could be the equivalent of akinetic mutism limited to the speech sphere.

[A cause of acute encephalitis: primary infection due to Epstein-Barr virus]. / Une cause d'encéphalite aiguë: la primo-infection à virus d'Epstein-Barr.

UNLABELLED: The neurologic complications of Epstein-Barr virus (EBV) primary infection are frequently overlooked, yet EBV is responsible for some cases of acute encephalitis. We report on a case of an infant with acute brain-stem encephalitis during EBV primary infection. OBSERVATION: A 22-month-old boy was admitted to the hospital for acute neurological symptoms. Initially, he presented ataxia and dysphagia. During the first days, his neurological status worsened with loss of consciousness requiring ventilatory support. A progressive improvement appeared after a 1 week course. One month later, a moderate ataxia was still noted, but 3 months later, the clinical examination was normal. The neuroradiological explorations revealed damage of the white matter, with high T2-weighed signal on the first brain magnetic resonance imaging. One month later, the control magnetic resonance imaging was normal. The diagnosis of EBV encephalitis was based upon the exclusion of other possible causes and positive serology for EBV, consistent with acute primary infection. CONCLUSION: EBV infection should be looked for during the etiologic work-up of an acute encephalitis. The different cases reported in the literature show a favorable initial outcome, but neurological relapse and sequelae are possible. No specific treatment is effective.

[Central pontine myelinolysis: apropos of 2 case in children]. / Myélinolyse centropontine: à propos de deux observations chez l'enfant.

BACKGROUND: Central pontine myelinolysis has been rarely reported in children. This report concerns two children, aged 4 1/2 years. CASE REPORTS: The main clinical features were altered level of consciousness, tetraplegia and signs of brain stem dysfunctions. In both cases, magnetic resonance imaging (MRI) revealed hypersignal of protuberance in association with cerebellar lesion in one case and occipital lesion in the other, compatible with central and extrapontine myelinolysis. No underlying disease or electrolytic disorders was identified. Clinical outcome was good. Mental status was normal after 9 months for patient one and 4 months for patient two. The MRI abnormality was reduced at 9-month follow-up in patient two and unchanged at 4 months in patient one. CONCLUSION: The incidence of central pontine myelinolysis is probably underestimated in children. MRI allows a greater sensitivity in identifying areas of focal demyelination where diagnosis was previously only established by post mortem studies.

[Phlebothrombosis revealing Behçet's disease in a 13-year-old adolescent]. / Phlébothrombose révélatrice d'une maladie de Behçet chez une adolescente de 13 ans.

BACKGROUND: Behçet's disease is rare in children and is exceptionally revealed by thrombophlebitis at this age of life. CASE REPORT: A girl, aged 13 years, was admitted after having suffered from thrombophlebitis of the right leg for 6 weeks. Her medical history included frequent attacks of aphthous stomatitis and conjunctivitis and one episode of iritis. At admission, thrombophlebitis with venous thrombosis was confirmed by Doppler; it was associated with aphthous gingivitis and two similar erosive lesions in the genital area. Technetium 99 perfusion scintiphotography revealed a right pulmonary embolism. The erythrocyte sedimentation rate was elevated but there was no change in coagulation factors or immunologic abnormalities, except for the presence of immune complexes and increased complement C3 component. Biopsy of the skin lesions showed vascularitis. There was no involvement of the eyes. The condition progressively improved with anticoagulant treatment for 1 year, followed by low doses of acetylsalicylic acid. CONCLUSION: Phlebothrombosis, a classic complication of Behçet's disease in adults, revealed the disease in this girl. Its mechanism remains unclear and duration of anticoagulant treatment is still debated.

[Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry]. / Diagnostic d'une aspartylglucosaminurie chez une fillette de 9 ans admise en pédopsychiatrie.

A nine year-old, mentally retarded girl was admitted because of growth retardation and recurrent respiratory infections. The lysosomal storage disease was ascertained by microscopic examination of bone marrow and gum biopsies. The diagnosis was provided by urine chromatography: the glycoasparagine Glc-Nac-Asn was characteristic of patients with aspartylglycosaminuria.

Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.

The case described is that of a 9-yr-old girl presenting with aspartylglycosaminuria. Diagnosis of this lysosomal storage disease was guided by histologic study of gingival specimen sampled in the course of dental care. Transmitted electron microscopy (TEM) revealed many vesicles and cellular inclusions, altered collagenic formations, associated with abnormal extracellular matrix. Gingival biopsy is easily performed, is noniatrogenic, leaves nor scar, and could be properly used to help diagnose metabolic diseases in children.

[Reactive arthritis caused by Yersinia in children. Report of 4 cases]. / Arthrites réactionnelles à Yersinia chez l'enfant. A propos de quatre observations.

Among a group of children hospitalized for "joint pain", four of the cases of reactive arthritis were due to Yersinia infection. These four cases are described. Some patients had suggestive clinical symptoms but serologic studies were needed to establish the diagnosis. Tissue group studies showed that two children were HLA B27 and one was HLA B7. Reactive arthritis due to Yersinia in a form of "enteral arthritis". The prevalence of Yersinia arthritis has not been documented. Serologic tests are essential to outrule the main differential diagnosis, i.e. chronic juvenile arthritis (juvenile rheumatoid arthritis). Short-term resolution of symptoms is seen in every case. The long-term outcome is less well documented, especially with regard to the risk of recurrence and to relationships with peripheral joint disease and spondylarthropathies of early adulthood. HLA B27 positivity may be a risk factor. The pathogenesis of Yersinia-induced reactive arthritis is unclear; current studies are focusing on immunologic factors. The uncertainties concerning long-term outcome justifies renewed interest in childhood reactive arthritis.