[Adenosine deaminase 1 deficiency, an inborn error of metabolism underlying a severe form of combined immunodeficiency]. / Déficit complet en adénosine-désaminase-1 : une erreur innée du métabolisme responsable d'un déficit immunitaire combiné sévère.

Severe combined immune deficiencies (SCIDs) are a heterogeneous group of severe cellular immunodeficiencies. Early diagnosis is essential to allow adapted care before life-threatening systemic infections or complications associated with live vaccines. Adenosine deaminase 1 deficiency (ADA1) is an inborn error of metabolism leading to severe lymphopenia and characteristic bone lesions. Herein, we present the typical case of a child in whom ADA SCID was diagnosed at 2 months of life, revealed by lung involvement and extreme lymphopenia. Immune restoration in terms of peripheral lymphocyte count with enzyme replacement therapy, namely pegylated bovine ADA, is satisfactory so far. The search for a compatible donor is underway. Correcting the genetic defect by gene transfer is also being considered. The phenotype of this very rare condition is described. A severe peripheral lymphopenia in a young child is a finding of utmost importance for the diagnosis of a primary cellular immunodeficiency.

[GACI syndrome: a case report with a neonatal beginning]. / Le syndrome GACI : à propos d'une observation à début néonatal.

GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.

[Transplacental or breast milk intoxication to clonidine: a case of neonatal hypotonia and drowsiness]. / Intoxication transplacentaire ou par lait maternel à la clonidine : un cas de somnolence et d'hypotonie néonatale.

We report a case of clonidine poisoning in a breastfed newborn. At 2 days of life, this boy presented a consciousness deficit with drowsiness, hypotonia, and suspected generalized seizures. There were no cardiorespiratory problems outside of progressive central apneas beginning the 5th day. Further initial investigations were normal (extensive biological exams, cranial ultrasonography and transfontanellar Doppler, electroencephalography, and brain MRI study), excluding the main causes of neonatal hypotonia (encephalitis, infection, metabolic disorder). However, new medical questioning revealed maternal daily intake of 0.15 mg clonidine for hypertension during and after pregnancy. Since it was impossible to quantify clonidine quantification in newborn serum and breast milk, a weaning test was performed the 9th day. Twenty-four hours after cessation of breastfeeding, complete regression of symptoms was obtained. Poisoning by clonidine after fetal and neonatal exposure through breast milk is rare but severe enough to simulate a neurological disease. Diagnosis is based on the search for drug use and the cessation of breastfeeding if doubt persists. Recovery of normal examination results is then rapid and complete.

[Arterial hypertension with renal disease revealed by heart failure in infants: two case reports]. / Hypertension artérielle d'origine rénale révélée par une défaillance cardiaque chez le nourrisson : à propos de 2 cas.

While blood pressure measurement methods in infants are well established, hypertension, a rare disease in this population, may still be revealed by heart failure. Kidney diseases are the most common causes of hypertension, prompting the search for a renovascular cause to start appropriate treatment. We report on 2 cases of late diagnosis of hypertension in infants, with hypertensive cardiomyopathy, one in the context of autosomal recessive polycystic kidney disease and the other in the context of renal artery stenosis with hemodynamic disorder, hypertensive encephalopathy and neurological sequelae. In both cases, the equilibrium of blood pressure was difficult to achieve in the acute phase. Renal ultrasound is fundamental for diagnosis. The potential complications related to hypertension require early diagnosis, emphasizing the importance of measuring blood pressure during a routine consultation in infants.

[Primary cutaneous aspergillosis complicated with invasive aspergillosis in an extremely preterm infant: case report and literature review]. / Aspergillose cutanée secondairement invasive chez un nouveau-né prématurissime : cas clinique et revue de la littérature.

Aspergillus is a ubiquitous fungus that can cause primary cutaneous aspergillosis in extremely low-birth-weight (ELBW) neonates, then be invasive and lead to death. ELBW neonates are particularly at risk because of decreased qualitative immune defenses and defects in the skin barrier. Broad-spectrum antimicrobial therapy and corticosteroids, often used in these patients, contribute to increased risk. We present a fatal case of primary cutaneous aspergillosis complicated with invasive aspergillosis, confirmed by autopsy, in an ELBW infant. The source of contamination was probably non-sterile disposable latex gloves used for neonatal care. The early recognition of this source led to its eviction for other hospitalized ELBW infants and no outbreak was observed.

[Pustular miliaria rubra and systemic type 1b pseudohypoaldosteronism in a newborn]. / Miliaire rouge et pseudo hypoaldostéronémisme de type 1b de révélation néonatale.

BACKGROUND: The term "miliaria" is used to describe a group of highly transient skin disorders in the newborn characterized by eccrine duct obstruction and the passage of sweat into the epidermis and papillary dermis. This rash in the susceptible skin of the neonate is brought on by heat and confined environments. Our paper reports several episodes of pustular miliaria rubra associated with salt loss crises in a newborn with systemic pseudohypoaldosteronism type 1b (PHA). OBSERVATION: Since the first days of life, the child presented severe and diffuse miliaria comprising many disseminated pustules associated with salt loss syndrome. Pseudohypoaldosteronism type 1b was readily diagnosed on the basis of aldosterone, sodium and chloride levels in sweat, saliva and in feces. The course was characterized by chronicity and flares simultaneously with salt loss. DISCUSSION: Associated pseudohypoaldosteronism type 1b/red miliaria is not fortuitous with this in fact being the second case reported in the literature. Obstruction of the eccrine ducts and pustular exanthema were probably due to abnormal Na+ levels in sweat.

[Botulism in a neonate]. / Toxi-infection botulique chez un nouveau-né.

Botulism was suspected in a 17-day-old breastfed infant who developed over 2 days progressive muscular weakness and hypoventilation. The patient also presented with pupil dilation and light unresponsiveness. The electroencephalogram was normal. Full recovery was obtained after 85 days of artificial ventilation. Diagnosis was confirmed by the presence of the botulin toxin B in the patient serum. The source of the infection was not identified.

[Prenatal Bartter's syndrome. Report of two cases]. / Le syndrome de Bartter anténatal. A propos de deux cas.

Antenatal Bartter Syndrome (ABS) is a rare autosomic recessive tubulopathy characterized by idiopathic hydramnios, fetal polyuria and elevated levels of amniotic chloride. It is related to mutations affecting several transporters in the loop of Henle e.g. the Na-K-2Cl cotransporter, the chloride channel CLC-NKB and the potassium channel ROMK. We report two cases of ABS in siblings born to consanguineous parents (first cousins). The first pregnancy showed hydramnios of unknown etiology at week 23. Two amnio drains were performed at weeks 26 and 27. The baby was born in week 29 and developed polyuria with hyponatremia, hypokalemia and hyperaldosteronism. After eliminating diabetes insipidus and adrenal insufficiency, ABS was diagnosed. The baby was treated with 0.5 mg/kg/d indomethacine, which controlled the polyuria and the hydroelectrolytic disorder. The second pregnancy showed idiopathic hydramnios at week 24. The elevated amniotic chloride level (above 112 mmole/l) led to the antenatal diagnosis of ABS. The mother was treated with 1 mg/kg/d indomethacine until week 31 in order to stabilize the hydramnios. Two amnio drains at weeks 31 and 33 allowed the pregnancy to be prolonged until week 34. A genetic study of the family showed homozygosity of the NKCC2 gene marker suggesting its implication in the disease.

[Varicella complicated with necrotizing fasciitis caused by group A hemolytic Streptococcus]. / Varicelle compliquée d'une fasciite nécrosante à streptocoque hémolytique du groupe A.

UNLABELLED: Chickenpox has a high risk of invasive group A streptococcal disease and necroziting fasciitis. CASE REPORT: A five-year-old girl, during chickenpox treated with ibuprofen, developed sepsis and edematous and necrotic lesions of the pelvis and the abdominal wall. The child improved with surgical treatment and adjunction of clindamycin to the antibiotic therapy. CONCLUSION: We review the optimal medical and surgical treatment of necrotizing fasciitis and discuss the role of chickenpox and non steroidal antiinflammatory agents in this disease.

[Intestinal volvulus in extremely premature infants]. / Volvulus du grêle et grande prématurité.

UNLABELLED: Volvulus with or without malrotation are infrequent in the extremely premature newborn. CASE REPORTS: Intestinal volvulus in seven premature newborns are reported with abdominal distention, bright and tense skin without visible bowel loops and spiraled bowel loops on the abdominal X-ray. Intestinal resection was avoided due to early diagnosis. We identified abdominal wall massages as a risk factor, because no new cases have occurred since interdiction of these practices. CONCLUSIONS: Symptoms and radiologic findings are relatively specific for excluding the diagnosis of necrotizing enterocolitis in premature newborns. Abdominal nursing could be the incriminating factor.

[Thrombocytopenia due to materno-fetal allo-immunization. Report of a familial case]. / Thrombocytopénie par allo-immunisation materno-foetale. A propos d'une observation familiale.

The diagnosis of fetomaternal alloimmune thrombocytopenia (FMAT) was made in a newborn with thrombocytopenia and intracranial hemorrhage. The first child of the family was severely affected with neurodevelopmental sequelae secondary to intracranial hemorrhage. According to the maternal HPA phenotype, close to 100% of subsequent pregnancies could be expected to be affected as the homozygous state was observed in both platelet systems. Another infant was born after a poorly followed pregnancy and was affected as was his elder brother. Prednisolone was given during another pregnancy. A thrombocytic newborn without intracranial hemorrhage was delivered by prudent cesarian section. The infant received platelet transfusion (maternal platelets). We present case histories of FMAT, and stress the conditions for prenatal diagnosis and management.

The importance of 99Tcm-DMSA renal scintigraphy in the follow-up of acute pyelonephritis in children: comparison with urographic data.

At present, 99Tcm-dimercaptosuccinic acid (DMSA) renal scintigraphy is the most sensitive examination for the detection of parenchymal damage during acute pyelonephritis (APN) in children. This prospective study had three aims: (1) to evaluate the medium-term evolution of the scintigraphic abnormalities, to find a prognostic criterion of scintigraphic evolution; (2) to assess the correlation between the severity of early or late scintigraphic damage and selected clinical factors; and (3) to compare the permanent scintigraphic renal scars with intravenous urography (IVU) 2 years after the acute infection. Seventy-four children (mean age 32 months), presenting with a first clinical episode of pyelonephritis and an initial scintigraphic abnormality, were included in the study. Patients with a history of urinary tract infection (UTI), uropathy other than vesico-ureteral reflux (VUR) and a relapse of acute pyelonephritis were excluded. All children underwent control scintigraphy (mean 9 months after APN) and 43 had an IVU (mean 26 months after APN). Fifty-seven children (77%) still have scintigraphic abnormalities of varying severity (7 atrophic kidneys). Initial relative DMSA uptake of less than 45% results in a worse scintigraphic prognosis. The age of the child has no bearing on the severity of the initial renal involvement or on the evolution of the scintigraphic abnormalities. The rapid introduction of antibiotics (< 12 h) significantly improves the scintigraphic prognosis (P < 0.01). The presence of reflux (n = 39) leads to more serious initial damage, but we did not find any effect on later evolution in this study, in which all reflux was low grade in nature. Among the 43 children who had an IVU, 5 showed typical urographic and scintigraphic renal scars in the corresponding region and 38 showed a normal IVU with 28 cases of scintigraphic abnormalities. A DMSA scan is more sensitive than IVU for the detection of renal scarring after a first episode of APN.

Imaging of pyelonephritis.

OBJECTIVE: Accurate diagnosis of pyelonephritis using clinical and laboratory parameters is often difficult, especially in children. The main aims of this prospective study were to compare the value of different imaging techniques [renal sonography, cortical scintigraphy with technetium-99m dimercaptosuccinic acid (99mTc DMSA) and computed tomography (CT)] in detecting renal involvement in acute urinary tract infections and to determine the sensitivity of DMSA scans for permanent renal scars 6 months later. MATERIALS AND METHODS: Between February 1992 and January 1993, 55 children admitted to our pediatric unit with febrile symptomatic urinary tract infections were eligible for analysis. Ultrasonography (US), DMSA scanning and micturating cystourethrography were performed in every case. Only 18 children underwent CT. A second DMSA scan was performed in 48 children a mean of 7.5 months after the first. RESULTS: US abnormalities were found in 25 children (45 %). The first DMSA scan showed a parenchymal aspect suggestive of pyelonephritis in 51 patients (93 %). Among the 18 patients studied by CT, 14 had abnormalities. Normal US findings did not rule out renal parenchymal involvement. Scintigraphy appeared to be more sensitive than CT for renal involvement. The frequency and degree of initial renal parenchymal damage seemed to correlate with vesicoureteral reflux, but the most severe initial parenchymal defects were not associated with marked clinical or laboratory manifestations. Repeat DMSA scans, performed on 45 kidneys with abnormalities at the first examination, showed resolution in 19, improvement in 16, persistence in 8 and deterioration in 2. The prevalence of vesicoureteral reflux was not higher in patients with renal scarring on the second DMSA scan than in patients whose scans showed an improvement. CONCLUSION: DMSA scans should be considered as a reference in the detection and follow-up of renal scarring associated with acute urinary tract infection as this technique is more sensitive than US and CT, the latter being unsuitable because it entails radiation exposure and sedation of patients.

Outcome of cadaver kidney transplantation in small children.

Small children have often been reported to have poor outcome after kidney transplantation (KT). Recent reports from North America have shown that the use of living-related donors improves patient and graft survival. We report the experience in one centre of primary cadaveric KT using sequential immunosuppression in nine children aged 8-30 months and weighing 5.4-9.8 kg; donors were 0.7-12.3 years old. Four patients had pre-emptive KT and the other five were on peritoneal dialysis; the mean +/- SD waiting time was 2.0 +/- 2.4 months. Perioperative care has been published previously. The surgical approach was intraperitoneal if the aorta and vena cava were used (n = 7) and extraperitoneal for common iliac vessels anastomosis (n = 2); the duration of surgery was 3.5 +/- 0.9 h and the time for vascular anastomosis was 32 +/- 6 min. The recipients received ATG, azathioprine, prednisone and delayed administration of cyclosporin A. The patients were followed for 12-98 (median 41) months and showed good graft function (inulin clearance 63-100 ml/min/1.73 m2); only one child with recurrent haemolytic uraemic syndrome lost his graft three months post-transplantation and died after he had received a second graft. None of the recipients required post-transplant dialysis; arterial hypertension involved four children and was related to graft artery stenosis in two. Growth improved by 0.24 +/- 0.48 SD score of height per year.(ABSTRACT TRUNCATED AT 250 WORDS)

[Evaluation of urinary calcium/creatinine ratio in premature and full-term newborn infants]. / Evaluation du rapport calcium/créatinine urinaire chez le nourrisson et le nouveau-né à terme et prématuré.

Urinary calcium/creatinine ratio (U Ca/creat) was studied in infants, term and preterm newborn babies. In 31 1.5-24 months old healthy infants, the median U Ca/creat was 0.16 mmol/mmol (range 0.013-1.17) and was similar to the value obtained in children older than 4 years. In 55 healthy full-term newborns studied in the first week of life, the median U Ca/creat was 0.12 mmol/mmol. However the range of values was extremely wide (0.0006-4.75), suggesting that the U Ca/creat ratio is of little interest to screen for hypercalciuria during the neonatal period. In 31 premature newborns, the median U Ca/creat was 1.08 mmol/mmol, a value significantly higher than in the two other groups (P < 0.001); as in the term newborns there was a very wide range of values (0.057-6.83). However after excluding the premature babies with elevated serum 25 OHD level, this difference was not statistically significant.