Pili torti with congenital deafness (Bjornstad syndrome): a case report.

We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed.

[Chronic meningococcemia: 3 cases in the immunocompetent child]. / Méningococcémie chronique: trois cas chez l'enfant immunocompétent.

UNLABELLED: Chronic meningococcemia is a part of extra meningeal manifestations of meningococcal disease. Its diagnosis can be difficult because of lack of sensitivity of blood cultures. CASE REPORT: Three cases, concerning immunocompetent children, respectively aged of 14, 10 and 4 years are reported. The clinical course was characterized by recurrent fever, inflammatory joint manifestations and diffuse maculopapules secondary centered by petechiae. Microbiological findings revealed in one case a positive throat culture and presence of meningococcal soluble antigens in blood and urine. In the other two cases, diagnosis was done after done after positive blood culture at the 7th, and 13th days of course. CONCLUSION: The diagnosis should be considered in any children with a prolonged, recurrent fever and cutaneous and joint manifestations even if blood cultures remain negative. The response to therapy by usual antimeningococcal antibiotics is dramatic and curative while a prolonged untreated course may be complicated by metastatic infection.

[Clear cell meningioma: recurrent intraspinal tumor in a child]. / Méningiome à cellules claires: tumeur rachidienne récidivante chez un enfant.

BACKGROUND: Meningiomas represent 1.5% to 4.3% of cerebral and medullar primary tumors in children. CASE REPORT: A 9-year-old girl had a history of thoracolumbar scoliosis. An intracanalar and extramedullar tumor was confined to the lumbar region. Resection identified a clear cell meningioma. A symptomatic and tumoral recurrence occurred 5 months later in the same region. After a second resection, the patient received radiotherapy. At 8 months follow-up, no recurrence was documented. CONCLUSIONS: A stiff and painful scoliosis can be predictive of expansive intracanalar tumor. The recurrent or multifocal evolution of clear cell meningioma show the "aggressive behavior" of this histological type. A preventive radiotherapy could be proposed, depending on the age of the patient and the localization of the tumor.

[Pseudo-periodic disease with hyperimmunoglobulinemia D: a never-ending story with probable prenatal onset]. / Pseudomaladie périodique avec hyperimmunoglobulinémie D: une histoire sans fin de début anténatal probable.

UNLABELLED: Diagnosis of inflammatory non-infectious diseases with a neonatal onset is often retrospective. It may lead to aggressive and iatrogenic procedures. PATIENT: A 6-year-old boy was suffering, since birth, from recurrent febrile attacks including rashes, gastrointestinal manifestations and inflammatory joint involvement. This syndrome, partially improved with steroids, could have been of antenatal onset. Since the age of 4 years, the patient is considered as having hyper-IgD syndrome (HIDS). DISCUSSION: HIDS must be distinguished from familial Mediterranean fever. Patients suffer from recurrent fever concomitant to inflammatory joint involvement, abdominal distress, skin lesions, swollen lymph nodes and hepatosplenomegaly (especially seen in children). All patients have high serum IgD (> 100 UI/mL) and IgA levels. Nevertheless, a high IgD level is not specific. Our case could also be part of the CINCA (chronic, infantile, neurological, cutaneous and articular) syndrome, which includes similar early manifestations associated with a constant neurological and frequent ophthalmological involvement and epiphyseal changes; to date, these last three manifestations are not present in our patient. CONCLUSION: HIDS and CINCA syndrome are not known to be modified by any effective therapeutic agent. When presenting at birth, these inflammatory diseases must be considered as entities with a rarely described potential severity.

[Acute orbital myositis and idiopathic inflammatory pseudotumor in children: three cases]. / Myosite orbitaire aiguë et pseudotumeur inflammatoire idiopathique de l'enfant: trois cas.

UNLABELLED: Orbital pseudo-tumors account for approximately 8% of the orbital tumors. They are scarcely described in children and raise diagnostic dilemas, especially when they present as an isolated extra-ocular muscle swelling called idiopathic orbital myositis (IOM). CASE REPORTS: A diagnosis of inflammatory orbital pseudotumors (IOPT) was made in three children aged 7, 13 and 14 years from clinical and CT scan and/or MRI findings associated with histological data in two of them. Two of these IOPT presented as IOM. Analysis was made in a effort to eliminate intra-orbital tumors, especially rhabdomyosarcoma. CONCLUSION: The abrupt onset of the orbital signs, often related in the literature, was not a specific diagnostic criterion regarding to embryonic rhabdomyosarcoma. The inconstant presence of inflammatory signs and the absence of local osseous defect could be more discriminating. Although diagnostic procedure, including histological documentation, was difficult, even dangerous, surgical biopsy should be recommended. Eventually, considering the mandatory multidisciplinary care, steroid therapy response should be evaluated as a diagnostic test.

[Pseudotumor forms of neurosarcoidosis in children. Diagnostic difficulties and therapeutic management]. / Formes pseudo-tumorales de la neurosarcoïdose chez l'enfant. Difficultés diagnostiques et prise en charge thérapeutique.

In systemic sarcoidosis, neurologic manifestations are possible and occurred in 5 p. 100 of cases. The diagnosis is easier when sarcoiddosis is known, but in half case neurologic symptoms are inaugural. In these cases, involvement of other sites (liver, lung, eyes or skin) by the disease is needed to confirm sarcoidosis. Main manifestations in neurosarcoidosis are cranial nerve palsy, diabetes insipidus or chronic aseptic meningitis, but sometimes sarcoidosis can present as an intracranial mass. The diagnosis of neurosarcoidosis may be difficult and could be confused with infection (such tuberculosis or mycosis), with inflammatory diseases (such multiple sclerosis) or with neoplasm, particularly in case of oedema. Brain biopsy may be necessary in isolated neurosarcoidosis if no peripheral histology evidence of noncaseating granulomas has been obtained. Treatment with steroids alone is the best choice for initial therapy but must be prolonged. It is difficult to predict accurately the response to steroids and relapse may be possible after a long time. Other immunosuppressive therapeutics or radiotherapy have been used in patient with refractory neurosarcoidosis. Sequential magnetic resonance imaging is the useful mean for the follow-up of neurosarcoidosis.

[Acute intermittent porphyria associated with epilepsy in a child: diagnostic and therapeutic difficulties]. / Porphyrie aiguë intermittente et épilepsie chez un même enfant: difficultés diagnostiques et thérapeutiques.

BACKGROUND: Acute intermittent porphyria is an autosomal dominant inborn error of heme biosynthesis. The diagnosis of acute porphyria is rare before puberty. Its association with epilepsy induces difficulties in diagnosis and seizure treatment. CASE REPORT: A case of acute intermittent porphyria in a 9-year old boy with epilepsy is reported. The diagnosis was made only after the third hospitalisation, with the measurement of enzyme activity and identification of family members with latent disease. Adjustment of antiepileptic treatment was necessary 7 months later. CONCLUSION: Most antiepileptic drugs are unsafe because they have demonstrated porphyrinogenicity. Low doses of clonazepam can be used in this situation.

[Association of venous angioma and cavernoma of the posterior fossa]. / Association d'un angiome veineux et d'un cavernome au niveau de la fosse postérieure.

BACKGROUND: Association of venous angioma to cavernous malformation is rare. If bleeding occurs, it must be assigned to the cavernous malformation. CASE REPORT: A 4 year-old boy suffered from an acute ataxia. Investigation showed a venous angioma and a cavernoma malformation in the posterior fossa. The patient was admitted again at the age of 8 years for a new episode of acute ataxia due to cerebellar hematoma. A conservative treatment was settled because of the risk of venous infarction. CONCLUSION: Venous angiomas are rarely symptomatic and are considered as normal venous variants. Indeed, the cavernomas are true malformations with a high bleeding potential. When both lesions are associated and bleeding occurs, only the cavernous malformation has to be removed if surgically accessible.

[Multiple cerebral telangiectasias. Apropos of an anatoma-radioclinical case]. / Télangiectasies cérébrales multiples. A propos d'un cas anatomo-radio-clinique.

UNLABELLED: Telangiectasias are vascular malformations corresponding to dilated capillary separated by nervous parenchyma. They are generally asymptomatic and discovered during autopsy. CASE REPORT: We describe the case of a 2-year-old girl who was admitted for drowsiness and vomitings with craniomegaly and right hemiparesis. The cerebral imaging demonstrated large amounts of calcium in the region of pons and left thalamus with a contrast enhancement throughout these calcifications. The thalamic lesion was cystic with obstruction of the third ventricle and hydrocephalus. There were multiple calcifications scattered throughout the basal ganglia and the white matter. The latter had a low density on CT and high signal intensity on MRI (T2). The cerebral angiographic study showed a blush in the pons and the thalamus. Clinical course was fluctuating or intermittently progressive. Finally, in spite of radiotherapy and oral corticosteroid treatment, the child became quadriparesic with oculomotor palsy. She suddenly died at age 4 years and 6 months from a hemorrhage of the pons. Neuropathological study showed two clusters of telangiectasias with calcifications in the pons and the thalamus. Other calcified vascular malformations were seen in the white matter and the basal ganglia. Near the lesions, astrocytar gliosis and edema were observed. The white matter was malacic with isolated calcifications. CONCLUSION: Cerebral telangiectasias may be multiple and may produce severe neurologic disorders, occurring in infancy with fluctuating clinical course. Arteriography may show these usually cryptic vascular malformations. This diagnostic should be kept in mind in view to the neuroradiological aspect we report here.

Human beta-mannosidase deficiency associated with peripheral neuropathy.

Human beta-mannosidosis is an inherited lysosomal storage disorder described in only seven families. We present a further case in a black African 14-year-old boy with severely deficient beta-mannosidase activity, bilateral thenar and hypothenar amyotrophy, electrophysiologically demonstrable demyelinating peripheral neuropathy, and cytoplasmic vacuolation of skin fibroblasts and lymphoid cells. The clinical and biochemical features of our patient are compared to those of previously reported patients.

[Cerebral arteritis, carotid thrombosis and rubella: relation or coincidence?]. / Artérite cérébrale, thrombose carotidienne et rubéole: relation ou coïncidence?

A 10 year-old boy presented with an acute transitory right hemiparesis with aphasia. On CT-scan there was a left temporal low density. The cerebral angiography showed a total obstruction of the left terminal internal carotid with a "beading" of the posterior cerebral artery on the same side. Blood serologies and the presence of specific IgM in the cerebrospinal fluid gave evidence for recent rubella. An other arteriogram after a follow-up of 3 months showed a persistent obstruction of the internal carotid but a disappearance of the cerebral posterior artery abnormalities.

[Dissection of the sylvian artery with resulting aneurysm in a 6 years old child]. / Dissection de l'artère sylvienne avec anévrysme séquellaire chez une enfant de 6 ans.

BACKGROUND: Dissection of the walls of the cervical and cerebral arteries is rare in childhood. CASE REPORT: A 6 year-old girl suddenly suffered a loss of consciousness followed by a generalized tonic-clonic seizure 90 min after a non-traumatic fall. At admission, she had a massive right hemiplegia with aphasia. The CSF was not hemorrhagic. A CT-scan performed at H3 without infusion of radiopaque contrast material was normal, but a second CT-scan on day 4 showed a low density in the low area of the middle cerebral artery. An arteriogram taken on day 6 showed that the wall of the proximal part of this artery was irregular, with a discrete additive imaging. The child was treated with IV heparin for 3 weeks, then with aspirin. All investigations for the possible cause of thrombosis (protein C and S, antithrombin III, homocystinuria, etc...) were negative. Two further arteriograms, the last after a follow-up of 16 months, showed progressive disappearance of the wall irregularities and replacement of the additive imaging by a large aneurysm, suggesting a dissection. The hemiplegia persists under prolonged aspirin therapy. CONCLUSION: This case shows that dissection may occur in childhood without any apparent cause. It can result in the development of an aneurysm, a complication which is more frequent following dissection of the cervical rather the cerebral arteries.

Plasma exchange therapy in pediatric patients. Plasma filtration with a unipuncture technique.

Therapeutic apheresis in children is limited by technical considerations, such as circuit blood volume, venous access and hemodynamic instability. Here we report our experience with 310 plasma-filtration sessions in 44 children (aged 9 months-17 years). We used a miniaturized circuit with a unipuncture technique and a "balancing system" which assured a permanent fluid equilibrium. This procedure is well adapted to children and always made pediatric plasma exchange therapy easier and safer. The more common indications remain Guillain-Barré syndrome and acute severe glomerular diseases.

[Recurrent coxopathy, isolated manifestation of Gaucher's disease]. / Coxopathie récidivante, manifestation isolée d'une maladie de Gaucher.

A case of Gaucher's disease is reported in a 12 year-old girl. Presenting signs consisted of relapsing hip arthritis, while no splenomegaly was detectable. The authors comment the inflammatory or moderately hemorrhagic nature of articular fluid and the diagnostic value of an early decreased uptake on bone scintiscan. The value of magnetic resonance imaging for evaluating bone involvement is emphasized.

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Proximal spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis. The childhood form is classically subdivided into three groups: acute Werdnig-Hoffmann (type I), intermediate Werdnig-Hoffmann disease (type II) and Kugelberg-Welander disease (type III). These different clinical forms have previously been attributed to either genetic heterogeneity or variable expression of different mutations at the same locus. Research has been hindered because the underlying biochemical defect is unknown, and there are insufficient large pedigrees with the most common and severe form (type I) available for study. Therefore, we have undertaken a genetic linkage analysis of the chronic forms of the disease (types II and III) as an initial step towards the ultimate goal of characterizing the gene(s) responsible for all three types. We report here the assignment of the locus for the chronic forms to the long arm of chromosome 5 (5q12-q14), with the anonymous DNA marker D5S39, in 24 multiplex families of distinct ethnic origin. Furthermore, no evidence for genetic heterogeneity was found for types II and III in our study, suggesting that these two forms are allelic disorders.