[An rare complication of scarlet fever : invasive group A streptococcal infection with streptococcal toxic shock syndrome]. / Infection invasive à Streptocoque du groupe A dans le décours d'une scarlatine.

Invasive Group A Streptococcus infections and streptococcal toxic shock syndrome are rare complications of common diseases in children such as scarlet fever or impetigo. These invasive diseases are particulary challenging because of their rapid progression and the lack of predisposing factors in most cases. Prompt diagnosis and treatment are mandatory to reduce the mortality associated with these severe diseases. We report the case of an 8- year-old girl who developped an invasive group A streptococcal disease with osteomyelitis and streptococcal toxic shock syndrome in the course of a classical scarlet fever.

Les infections invasives à Streptocoque du groupe A et le syndrome de choc toxique streptococcique sont des affections rares qui peuvent compliquer des infections communes de l'enfant telles que la scarlatine ou l'impetigo. La progression rapide de ces formes invasives et leur survenue, dans la majorité des cas, chez des enfants sans facteur de risque identifiable, les rend particulièrement redoutables. Un diagnostic et un traitement agressif précoces sont essentiels pour réduire la mortalité associée à ces affections graves. Nous rapportons le cas d'une enfant de 8 ans ayant présenté, dans le décours d'une scarlatine, une infection invasive à Streptocoque du groupe A avec ostéomyélite et syndrome de choc toxique streptococcique.

Malignant transformation of an abdominal inflammatory myofibroblastic tumor with distant metastases in a child.

Inflammatory myofibroblastic tumors (IMT) are lesions that mostly affect young adults and children. The tumor is made up of myofibroblasts and a mixed inflammatory infiltrate and rarely undergoes malignant transformation. We present a case of a 13-year-old boy with a pelvic mass diagnosed as IMT which underwent malignant transformation and metastasised to the liver. We report the ultrasound, computed tomography (CT) and magnetic resonance (MR) findings of this rare disorder.

Uterus didelphys with obstructed hemivagina and renal agenesis: MRI findings.

Müllerian duct abnormalities (MDA) are developmental disorders leading to dysmorphism of the female genital tract. Currently the Buttram and Gibbons classification of these entities is widely used. We present a case of a young girl with uterus didelphys and ipsilateral renal agenesis.

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.

BACKGROUND: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. METHODS: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A. RESULTS: Two novel heterozygous missense mutations in TUBA1A were identified: c.629A>G (p.Tyr210Cys) occurring de novo in a boy with lissencephaly, and c.13A>C (p.Ile5Leu) affecting 2 sisters with polymicrogyria whose mother presented somatic mosaicism for the mutation. CONCLUSIONS: Mutations in TUBA1A have been described in patients with lissencephaly and pachygyria. We report a mutation in TUBA1A as a cause of polymicrogyria. So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases. This article describes familial recurrence of TUBA1A mutations due to somatic mosaicism in a parent. These findings broaden the phenotypic spectrum associated with TUBA1A mutations and have implications for genetic counseling.

Screening for developmental dysplasia of the hip.

The reported prevalence of established dislocation the hip in an unscreened population varies from 0.7 to 1.6 / 1000 children in European and American white populations. In clinically screened populations neonatal hip instability is reported to occur in 3 to 30 / 1000 newborns while established congenital dislocation has a prevalence of 0.1- 4/1000 of which 1/1000 is judged to be in need for surgery. Early diagnosis of DDH is essential for successful treatment and later prognosis of the disorder. Combined procedure including evaluation of both hip morphology and hip stability is currently recommended. Opinions differ about the need for universal versus selective sonographic screening for diagnosis of DDH. Currently selective screening of those infants with recognised risk factors and those with abnormal physical examination would be cost-effective and the only practicable method for most countries.

MR imaging findings of bone marrow changes in patients with cystic fibrosis.

The purpose of this work was to evaluate bone marrow abnormalities in the lower limbs of patients with cystic fibrosis by means of MR imaging. Eight patients with cystic fibrosis ranging in age from 16 to 35 years (average age 25.1 years) were evaluated with MR imaging of the lower extremities. T1 weighted spin echo sequences were obtained in all patients. Pelvis, femora and tibia were imaged in the coronal plane whereas the feet were imaged in the sagittal plane. The studies were independently evaluated by two musculoskeletal radiologists. The images were not mixed with disease-free images, but the readers were completely unaware of clinical data. Distribution of haematopoietic and fatty marrow was graded on a 5-point scale. In five patients, both observers considered marrow distribution as probably or definitely abnormal relative to their age. Although our findings are very preliminary, our investigation suggests that cystic fibrosis may be added to the list of disorders in which bone marrow abnormalities may be observed.

[Tietze's syndrome in a 2-year old boy]. / Het syndroom van tietze bij een 2-jarige jongen.

A 2-year-old boy was seen with a painful swelling of the left costochondral junction. Laboratory examination revealed no signs of infection. Echography and CT-scan revealed swelling of the 4th and 5th costochondral junction and the pectoral muscle. Tietze's syndrome was suspected and a wait-and-see policy was decided on. During follow-up, the symptoms gradually decreased. Ten weeks after the onset of symptoms there was only a slight, painless swelling with normal ultrasound findings. Tietze's syndrome is defined as a benign, painful, non-suppurative and localised swelling of the costosternal, costochondral or sternoclavicular joints with spontaneous regression of symptoms. It is typically described in adults but appears in children and infants as well. Recognition of this syndrome and knowledge of its favourable outcome can prevent invasive diagnostic procedures.

Use of diffusion-weighted MR imaging in differential diagnosis between intracerebral necrotic tumors and cerebral abscesses.

The differential diagnosis between intracerebral necrotic tumors and cerebral abscesses is frequently impossible with conventional MR imaging. We report two cases of cerebral abscesses that showed high signal on diffusion-weighted echo planar imaging and a strongly reduced apparent diffusion coefficient. This appearance was not present in our cases of necrotic/cystic gliomas (eight cases) and necrotic metastases (two cases). We believe that diffusion-weighted MR imaging may be a diagnostic clue in cases of cerebral "ring-enhancing" masses.

Popliteal cysts in children: prevalence, appearance and associated findings at MR imaging.

OBJECTIVE: The purpose of this study was to determine the prevalence of Baker's cysts on MR images in a paediatric orthopaedic population, to investigate the association of Baker's cyst with joint fluid and joint disorders in children, and to compare the MR appearance of Baker's cysts in children with that previously reported in adults. MATERIALS AND METHODS: Reports from 393 MR studies of the knee performed in children aged from 1 to 17 years were retrospectively reviewed for the presence of a Baker's cyst, joint effusion, meniscal tear, anterior cruciate ligament tear, or any other joint disorder. RESULTS: A Baker's cyst was identified in 6.3 % (25/393) of patients. The MR images and clinical charts of patients with a Baker's cyst were reviewed. None of the 25 patients with a Baker's cyst had an associated anterior cruciate ligament tear or meniscal tear. Two patients had osteochondritis dissecans and two others had synovial disease (infection and juvenile rheumatoid arthritis). Joint fluid was demonstrated in 16 % (4/25) of patients with a Baker's cyst. There was no statistically significant association between presence of a Baker's cyst and presence of joint fluid. CONCLUSIONS: Baker's cyst is less prevalent in a paediatric orthopaedic population than in an adult population. In children, it seems that Baker's cyst is seldom associated with joint fluid, meniscal tear, or anterior cruciate ligament tear. On MR images, a communication between the Baker's cyst and the joint was not demonstrated in any of the patients. In addition, the presence of debris and cyst leakage was not observed.

The use of the anti-malaria drug Fansidar (pyrimethamine and sulphadoxine) in the treatment of a patient with autoimmune lymphoproliferative syndrome and Fas deficiency.

Fas is a protein that plays a major role in the apoptotic mechanism of several cell types, including white blood cells (WBC). Mutations of the Fas gene in humans are known to lead to autoimmune lymphoproliferative syndrome (ALPS). Glucocorticoids or cytostatic drugs are sometimes used to treat the lymphoproliferation in these patients. When treated with the anti-malaria drug Fansidar, a patient with ALPS showed a marked shrinkage of the lymph node masses, decrease in peripheral blood lymphocytes (PBL) and an increase in neutrophil numbers. In addition, an increased Fas expression was seen on all types of leucocytes.

Technetium-99m-dimercaptosuccinic acid renal scintigraphy in children over 5 years.

We retrospectively evaluated the frequency of renal scintigraphic abnormalities in children over 5 years admitted with a first symptomatic urinary tract infection (UTI). Among 261 children investigated, we found only 23 over 5 years having had technetium-99m-dimercaptosuccinic acid scintigraphy during the acute phase of a first UTI. Obvious scintigraphic abnormalities were detected in 14 children (15 kidneys): 12 kidneys showed focal cortical defects and 3 were small and deformed. Ultrasound was normal in 7 of the 15 kidneys with abnormal scintigraphy and in all the kidneys with normal scintigraphy. Among the 12 kidneys with focal cortical lesions, 8 kidneys returned to normal or improved considerably 2-12 months after initial work-up. In conclusion, in children over 5 years admitted with a first symptomatic UTI, the frequency of scintigraphic abnormalities is high and a strategy based only on ultrasound data would miss about 50% of the abnormal kidneys.

Subcutaneous granuloma annulare: MR imaging findings.

We present a case of subcutaneous granuloma annulare evaluated with MR imaging. The mass was poorly defined and showed thickened interconnecting strands with low signal intensity on T1- and T2-weighted MR images. When a poorly defined subcutaneous mass with low signal intensity on both T1- and T2-weighted MR images is observed in an otherwise healthy child, subcutaneous granuloma annulare should receive serious consideration. Subcutaneous granuloma annulare should be added to the list of tumors with short T2.

Unusual location of an ovary: ultrasonographic features and surgical correlation.

We present a case of ectopic ovary in a 5-month-old baby presenting a firm nodule in the left labia majora. Ultrasonography was performed and revealed an ectopic ovary. The ectopic ovary was surgically returned in adnexial location. We describe the typical findings of this entity.