[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]. / Déficit en adénylosuccinate lyase à révélation néonatale.

Adenylosuccinate lyase deficiency is an autosomal recessive inborn error of purine synthesis, which provokes epilepsy, psychomotor delay and/or autistic features. We report on two siblings with ADSL deficiency, who developed seizures on the first day of life. ADSL deficiency should be part of the screening to be performed in case of neonatal seizures.

[Respiratory distress in three newborns after mask disinfection with Endosporine. Probable role of glutaraldehyde]. / Détresse respiratoire chez trois nouveau-nés après désinfection des masques par l'Endosporine. Rôle probable du glutaraldéhyde.

BACKGROUND: Disinfectants for medical devices are uncommonly a cause of iatrogenic adverse effects. Nevertheless, when misused, they can induce severe complications. Three cases of acute respiratory distress in newborns probably induced by glutaraldehyde are reported. CASE REPORTS: Three children born by Caesarean section between 8 and 19 May 1999 in the same hospital presented acute respiratory distress requiring hospitalization in the neonatal intensive care unit; one child was premature. The clinical appearance, which was initially normal, deteriorated with a respiratory distress in 30 to 60 minutes. Recovery was uneventful in all cases. The diagnosis considered was a hyaline membrane disease. The enquiry conducted after this cluster onset identified, as a main contributing factor, the disinfection procedure recently introduced in the surgical theater. CONCLUSION: Review of toxicologic data on glutaraldehyde shows this is a highly irritating chemical for the respiratory tract, even at low concentrations. Clinical and radiologic features in these three neonates are compatible with a pulmonary sub-edema on an immature alveolar setting. The hypothesis proposed is that glutaraldehyde, the active ingredient of the biocidal formula used to disinfect the respiratory masks, was massively desorbed from the rubber and foam of which masks are made.

[The difficulty of prenatal diagnosis of Kniest's disease. Apropos of a case simulating congenital spondylo-epiphyseal dysplasia]. / La difficulté du diagnostic anténatal de la maladie de Kniest. A propos d'un cas simulant la dysplasie spondylo-épiphysaire congénitale.

The second antenatal diagnosis of Kniest's syndrome is described in this report. This skeletal dysplasia involving disproportional dwarfism and a flat facies is compatible with life and normal intelligence. The authors describe the observed sonographic imagery and emphasize the important role of ultrasonography for antenatal evaluation of the prognosis of the skeletal dysplasias. The main differential diagnosis is spondylo-epiphyseal dysplasia congenita.

[Intraosseous infusions in pediatric life-threatening emergencies]. / Perfusion intra-osseuse dans les urgences vitales pédiatriques.

As the bone marrow is a vascular tissue which cannot collapse, it may be used as a vascular access to treat life-threatening emergencies especially in children. Two cases reported here underline the value of this life-saving procedure. Both children were 9 months old, and were admitted for severe dehydration, having lost 15 and 10% of body weight respectively. All attempts to set up an intravenous infusion in a peripheral vein failed in both. The fontanelles were closed, and the central veins (internal jugular and subclavian veins) easily accessible, however collapsed. Intraosseous infusion was decided as a last ditch procedure. A 15-gauge Mallarmé's trocar was inserted at the proximal end of the tibia. In both children, this allowed rehydration to be carried out, and, in the second child, anticonvulsive and antibiotic therapy to be started. The intraosseous line was replaced, in the first child, at the third hour, by a conventional infusion line, set up by denudation, and in the second one, by a subclavian line. This technique has few contra-indications, and the complication rate is low. However, this technique should remain limited to a few indications only.

[Congenital diverticulum of the tracheal carina in neonates. A case report]. / Diverticule congénital de la bifurcation trachéale à révélation néonatale. A propos d'un cas.

A 17 day-old neonate with no history of broncho-pulmonary disease presented with a severe respiratory distress which was found to be related to a congenital tracheal diverticulum. An excision of the diverticulum was performed. Histologically it was characterized by a lining wall of stratified columnar ciliated epithelium and the presence of smooth muscle and cartilage in the wall. This rare entity was reported only once in the pediatric literature. It gives a history of chronic respiratory tract infections or acute respiratory distress. Bronchoscopy or bronchography and CT scan are necessary for the diagnosis. The treatment is surgical.

Familial infantile nephrotic syndrome with ocular abnormalities.

Two siblings born from consanguineous parents experienced infantile nephrotic syndrome with ocular and neurological abnormalities; the boy also had a micropenis; both patients died before age 1 year. An initial renal biopsy followed by a two-step binephrectomy allowed good histological assessment of disease progression in one patient. The progression of the lesions was characterized by mesangial involvement, then an extensive extracapillary proliferation and tubular dilatations with a high mitotic activity of the epithelium and nuclei of unequal size. The main features involved major ultrastructural changes of the glomerular basement membrane. These two patients may represent a new disease entity or a severe form of diffuse mesangial sclerosis, with autosomal recessive inheritance.

[Familial infantile nephrotic syndrome with ocular abnormalities]. / Syndrome néphrotique infantile familial avec anomalies oculaires.

Two siblings born from consanguineous parents experienced infantile nephrotic syndrome with ocular and neurological abnormalities and a micropenis in the boy; both patients died before age 1. The opportunity to perform successively a renal biopsy and a two-step binephrectomy permitted a good histological follow-up. The lesions were characterized by mesangial involvement, followed by an extensive extracapillary proliferation and tubular dilatations with a high mitotic activity of the epithelium with anisocaryosis; the main features consisted in major ultrastructural changes of the glomerular basement membrane which were more significant and different from those previously described in the diffuse mesangial sclerosis. These 2 cases may either constitute a new entity or an extreme form of diffuse mesangial sclerosis, supported by recessive autosomal inheritance.

[Involvement of the urinary tract in a syndrome of congenital epidermolysis bullosa and atresia of the pylorus]. / Atteinte du tractus urinaire au cours du syndrome épidermolyse bulleuse congénitale-atrésie du pylore.

Epidermolysis bullosa associated with pyloric atresia is a rare autosomal recessive condition, usually fatal in the first few months of life. Since 1983 urinary tract disease is known to be another manifestation of this syndrome which becomes the main problem in children surviving beyond infancy. The case of a 2 1/2 year-old boy with mild cutaneous manifestations of junctional epidermolysis bullosa, corrected pyloric atresia and renal disease is reported. Hematuria, dysuria, obstruction of the uretero-vesical junction and worsening hydronephrosis led to bilateral ureterostomy (ureteral reimplantation was not attempted because the thickness of the bladder wall and the extensive ureteral fibrosis).

[Anatomical study of the kidneys of newborn infants dying after a septic state]. / Etude anatomique des reins de nouveau-nés décédés au décours d'un état septique.

Over a 6 years period, 51 autopsies have been performed in infants dead after severe sepsis. One third of them had renal damages, consisting mainly in haemorrhagic infiltration. Pathological and clinical data are not always well correlated, but some parameters may enhance a poorer renal prognosis, such as the duration of shock and anuria, or exchange transfusion. The clinical presentation of the infection and the encountered germs are the same in both groups, with or without renal damage. A better management of intensive haemodynamic cares in these neonates increases their survival rate and raises the problem of chronic renal failure or hypertension in this situation. It seems very useful to state precisely the surveillance and protection of the renal function in such patients.

[Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid]. / Ascite foetale révélatrice d'une sialidose infantile. Intérêt de l'étude des oligosaccharides du liquide amniotique.

Non immune hydramnios and fetal ascite are demonstrated at 31 weeks gestation. There is no familial story. All etiologic investigations (repeated ultrasonographic examinations, amniocentesis) are negative. The delivered girl has a normal development. She presents a congenital ascite and edema. The diagnosis of sialidosis (mucolipidosis type I) is supported by the early finding of vacuolated lymphocytes, the excretion of oligosaccharides in the urine and, finally, the results of the study of alpha-D-neuraminidase fibroblasts and others lysosomal enzymes activities. Oligosaccharides and enzymic studies provide same results in amniotic fluid. Authors point the particular interest of amniotic fluid oligosaccharides study when the etiologic diagnosis of idiopathic fetal ascite or hydrops is to be done.

[Corynebacterium acnes osteitis. A case in a child]. / Ostéite à Corynebacterium acnes. Une observation chez l'enfant.

The authors report a case of Corynebacterium acnes osteitis in an 11 year old girl, involving the upper of the right tibia. The lesion resembled a malignant tumour radiologically and tuberculosis histologically. Scintigraphy revealed involvement of the seventh right rib. 3 months treatment with Pristinamycin resulted in cure.

[Ocular and cutaneous melanosis associated with the Sturge-Weber syndrome: clinical, histological, and ultrastructural studies of one case (author's transl)]. / Syndrome de Sturge-Weber associé à une mélanose oculo-cutanée : étude clinique, histologique et ultrastructurale d'un cas.

A 3 year old portuguese boy with the Sturge-Weber syndrome also had oculocutaneous melanosis. The cutaneous melanosis extended to more than 50 p. 100 of the body surface. Hands, feet and the face were spared. The abnormal pigmentation of the eyes involved the sclerae bilaterally. Clinically, the cutaneous hypermelanoses most likely represented a widespread aberrant mongolian spot. Histological study of the hyperpigmented skin revealed dermal melanocytes in the superficial and mid-dermis. Ultrastructural study showed that most of the dermal melanocytes were loaded with mature melanosomes. All development stages of melanosomes were observed in some of them. Average melanosomal size in the dermal melanocytes was slightly increased when compared to that of melanosomes in epidermal keratinocytes. From this case and from a review of the literature, the authors suggest that the association between the Sturge-Weber syndrome and disturbances of the melanin pigmentation of the skin and eye is probably not coincidental. An embryologic abnormality, affecting both the neural crest (from where melanoblasts originate) and the primary vascular plexus may explain such an association. Various disorders, including nevus of Ota, nevus Flammeus, the Sturge-Weber syndrome associated with ocular and cutaneous pigmentary abnormalities and the Sturge-Weber syndrome in the complete or incomplete forms, may represent the clinical picture of the same embryologic disturbance. The clinical picture might be related to the time at which it acts, the receptivity of the various structures and their level of differentiation.