[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.

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.

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.

A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified. This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene. The mutation was nearly homoplasmic and maternally inherited. This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration. It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.

Bathing-induced seizures.

Two unusual patients with sensory-induced seizures are presented. The clinical approach and evolution of seizures induced by bathing in patients with and without accompanying epilepsy are discussed.

Prevalence of sinusitis signs on MRI in a non-ENT paediatric population.

In a population of 100 children with suspected intracranial neurological disease, the overall prevalence of sinusitis signs on magnetic resonance images (MRI) is 45%. This figure exceeds the adult prevalence of 39%, while the nature of the lesions is more severe in children. Furthermore, paediatric sinuses seem to be affected according to a different pattern: adults have mainly maxillary and anterior ethmoidal lesions, whereas in children the sphenoidal and posterior ethmoidal sinuses are frequently involved too. Among children, the overall prevalence increases in the presence of a history of nasal obstruction (prevalence: 50%) and recent upper respiratory tract infection (prevalence: 81%) as well as when bilateral mucosal swelling (prevalence: 80%) or purulent secretions (prevalence: 100%) are seen on anterior rhinoscopy.

CT-scan study of the incidence of sinus involvement and nasal anatomic variations in 196 children.

CT-scan was used to examine rhinosinusitis in the developing sinuses; 196 children aged from 3 to 14 years were selected on the base of their chronic rhinorrhea, nasal congestion and cough. The patients were subdivided into six age groups (3-4, 5-6, 7-8, 9-10, 11-12 and 13-14 years). In the youngest age group, the authors noted maxillary involvement in 63%, ethmoidal involvement in 58%, and even sphenoidal sinus involvement in 29% of the children. Involvement decreased gradually with age, with 10% of ethmoidal and 0% of sphenoidal involvement in the 13-14 years age group. Maxillary sinusitis, however, persisted very frequently in the oldest age group (65%). Frontal involvement seems to become significant at the age of 7-8 years (7%) but it never exceeds 15% (11-12 age group). Septal deviations occurred in 16% of the youngest up to 72% in the oldest age group. The prevalence of bullous conchae increased with age too, although less prominently.

[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.

Evaluation of time interval difference digital subtraction fluoroscopy in patients with cystic fibrosis.

In this study the potential of thoracic subtraction fluoroscopy has been evaluated on the basis of our experience with this functional imaging modality in patients presenting with cystic fibrosis. The method, which consists of subtracting dynamic digital fluoroscopic images of the breathing chest in the time interval difference (TID) mode, applies to the study of the lucency variations during the respiratory cycle and provides dynamic functional information about ventilation and/or perfusion and diaphragmatic kinetics, without any injection and with minimal irradiation. To assess the validity of the TID procedure, our results were compared with standard roentgenography, clinical data, and scintigraphic findings, with emphasis on the latter. The limitations and advantages of TID compared with scintigraphy are discussed. Three groups of discrepancies emerge which do not discredit TID. TID offers rather the advantage of providing anatomic pictures and unique dynamic information, which is emphasized.

Ossifying fibroma of the long bones. Radiological diagnosis, differential diagnosis and management implications.

We report a case of ossifying fibroma of the long bones (OFLB). This lesion, occurring mainly during the first decade of life, typically affects the tibial diaphysis and clinically presents as a painless bony enlargement. Radiographic features include an osteolytic cortical expansion, containing diffuse calcifications, and separated from the medullary by a thick cortical rim. CT appears to be the examination of choice to define these signs and permits differentiation from monostotic fibrous dysplasia and from adamantinoma (by demonstrating the presence or absence of diffuse high attenuation values). The importance of making the differential diagnosis is stressed, as prognosis and management of OFLB, fibrous dysplasia and adamantinoma may vary considerably.

A rare cause of rickets in a young child.

We present a case of nutritional rickets in a young child due to a macrobiotic diet. The child presented with important thoracic deformation and breathing difficulties. Plain radiographs appeared to be an excellent method for the diagnosis and follow-up of the bony lesions in this disorder. We describe the typical bony abnormalities related to this relative rare disease.

Enterocolonic fistula, a rare complication of necrotizing enterocolitis.

A case of an enterocolonic fistula as a late complication of necrotizing enterocolitis is presented in a 3-month-old premature baby. The fistula was diagnosed by contrast enema. We describe the typical features of this rare complication.

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.

[I-MIBG scintigraphy in the diagnosis of neuroblastoma in children]. / I-MIBG-scintigrafie in de diagnose van neuroblastomen bij het kind.

Since the early eighties, *I-MIBG (= *I-metaiodobenzylguanidine), which is stored in the neurotransmitter storage granules of chromaffin cells, has been increasingly used for the detection of pheochromocytomas and allied sympathoadrenal pathologies. The aim of this paper is to illustrate, by means of clinical examples, the role of *I-MIBG-scintigraphy in child neuroblastoma and to underline its original place, compared with other imaging techniques, in determining the neuro-ectodermal origin of a tumor as well as in establishing the extension of the lesions at the time of diagnosis and during follow-up.

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.

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.

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.