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1.
Ann Dermatol Venereol ; 134(3 Pt 1): 253-6, 2007 Mar.
Article in French | MEDLINE | ID: mdl-17389851

ABSTRACT

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.


Subject(s)
Miliaria/complications , Miliaria/pathology , Pseudohypoaldosteronism/complications , Aldosterone/analysis , Chlorides/analysis , Feces , Female , Humans , Infant, Newborn , Saliva/chemistry , Sodium/analysis , Sweat/chemistry
2.
Arch Pediatr ; 13(2): 146-8, 2006 Feb.
Article in French | MEDLINE | ID: mdl-16376529

ABSTRACT

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.


Subject(s)
Botulism/diagnosis , Botulinum Toxins/blood , Botulinum Toxins, Type A , Female , Humans , Infant, Newborn , Respiration, Artificial , Respiratory Paralysis/etiology , Respiratory Paralysis/therapy
3.
Arch Pediatr ; 22(6): 630-5, 2015 Jun.
Article in French | MEDLINE | ID: mdl-25842197

ABSTRACT

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.


Subject(s)
Adenosine Deaminase/deficiency , Agammaglobulinemia/diagnosis , Diseases in Twins/diagnosis , Severe Combined Immunodeficiency/diagnosis , Female , Humans , Infant
4.
Nucl Med Commun ; 19(7): 703-10, 1998 Jul.
Article in English | MEDLINE | ID: mdl-9853352

ABSTRACT

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.


Subject(s)
Kidney/diagnostic imaging , Pyelonephritis/diagnostic imaging , Radiopharmaceuticals , Technetium Tc 99m Dimercaptosuccinic Acid , Urography , Acute Disease , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Kidney Function Tests , Male , Radionuclide Imaging
5.
Arch Pediatr ; 8(11): 1181-4, 2001 Nov.
Article in French | MEDLINE | ID: mdl-11760668

ABSTRACT

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.


Subject(s)
Enterocolitis, Necrotizing/etiology , Infant, Premature , Infant, Very Low Birth Weight , Intestinal Obstruction/etiology , Abdomen , Diagnosis, Differential , Enterocolitis, Necrotizing/diagnosis , Enterocolitis, Necrotizing/pathology , Female , Humans , Iatrogenic Disease , Infant, Newborn , Intestinal Obstruction/diagnosis , Intestinal Obstruction/pathology , Male , Massage/adverse effects , Risk Factors
6.
Arch Pediatr ; 9(3): 262-5, 2002 Mar.
Article in French | MEDLINE | ID: mdl-11938537

ABSTRACT

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.


Subject(s)
Chickenpox , Fasciitis, Necrotizing/microbiology , Streptococcal Infections , Streptococcus pyogenes , Chickenpox/therapy , Child, Preschool , Fasciitis, Necrotizing/therapy , Female , Humans , Streptococcal Infections/therapy
7.
J Gynecol Obstet Biol Reprod (Paris) ; 32(8 Pt 1): 751-4, 2003 Dec.
Article in French | MEDLINE | ID: mdl-15067902

ABSTRACT

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.


Subject(s)
Bartter Syndrome/genetics , Mutation , Prenatal Diagnosis , Adult , Amniocentesis , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Bartter Syndrome/diagnosis , Bartter Syndrome/drug therapy , Bartter Syndrome/embryology , Chloride Channels/genetics , Female , Humans , Indomethacin/therapeutic use , Infant, Newborn , Infant, Premature , Polyhydramnios/drug therapy , Polyhydramnios/etiology , Polyuria/drug therapy , Polyuria/etiology , Potassium Channels/genetics , Pregnancy , Pregnancy Complications , Pregnancy Outcome , Sodium Chloride Symporters , Symporters/genetics
8.
J Gynecol Obstet Biol Reprod (Paris) ; 28(5): 476-8, 1999 Sep.
Article in French | MEDLINE | ID: mdl-10566168

ABSTRACT

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.


Subject(s)
Antigens, Human Platelet/immunology , Maternal-Fetal Exchange/immunology , Platelet Transfusion/adverse effects , Pregnancy Complications, Hematologic/immunology , Thrombocytopenia/immunology , Adult , Female , Humans , Infant, Newborn , Pregnancy , Thrombocytopenia/etiology
9.
Arch Pediatr ; 21(2): 198-200, 2014 Feb.
Article in French | MEDLINE | ID: mdl-24411570

ABSTRACT

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.


Subject(s)
Clonidine/pharmacokinetics , Clonidine/poisoning , Consciousness Disorders/chemically induced , Hypertension, Pregnancy-Induced/blood , Hypertension, Pregnancy-Induced/drug therapy , Maternal-Fetal Exchange/physiology , Milk, Human/metabolism , Muscle Hypotonia/chemically induced , Sleep Stages/drug effects , Clonidine/therapeutic use , Consciousness Disorders/blood , Diagnosis, Differential , Female , Humans , Infant, Newborn , Male , Pregnancy , Seizures/blood , Seizures/chemically induced , Sleep Apnea, Central/blood , Sleep Apnea, Central/chemically induced
10.
Arch Pediatr ; 21(6): 632-6, 2014 Jun.
Article in French | MEDLINE | ID: mdl-24768072

ABSTRACT

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.


Subject(s)
Vascular Calcification/congenital , Vascular Calcification/diagnosis , Child , Female , Humans , Infant, Newborn , Mutation , Phosphoric Diester Hydrolases/genetics , Pseudoxanthoma Elasticum/diagnosis , Pyrophosphatases/genetics , Rickets, Hypophosphatemic/diagnosis , Rickets, Hypophosphatemic/genetics , Vascular Calcification/genetics
11.
Arch Pediatr ; 19(5): 501-5, 2012 May.
Article in French | MEDLINE | ID: mdl-22480462

ABSTRACT

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.


Subject(s)
Heart Failure/etiology , Hypertension, Renovascular/complications , Hypertension, Renovascular/diagnosis , Humans , Infant , Male
12.
Arch Pediatr ; 17(10): 1455-9, 2010 Oct.
Article in French | MEDLINE | ID: mdl-20488684

ABSTRACT

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.


Subject(s)
Aspergillosis/etiology , Latex/adverse effects , Antifungal Agents/therapeutic use , Aspergillosis/drug therapy , Aspergillosis/pathology , Autopsy , Disposable Equipment , Fatal Outcome , Gloves, Protective/adverse effects , Humans , Infant, Extremely Low Birth Weight , Infant, Newborn , Infant, Premature , Male , Necrosis , Skin Diseases/drug therapy , Skin Diseases/etiology , Skin Diseases/microbiology , Skin Diseases/pathology
19.
Pediatrie ; 43(5): 409-13, 1988.
Article in French | MEDLINE | ID: mdl-3059312

ABSTRACT

The authors report on the unusual evolution of two brothers suffering from nephrogenic diabetes insipidus after a 25-year follow-up. The polyuro-polydipsic syndrome was clinically well tolerated, without acute complications even during infancy. However, despite the lack of water restriction and the presence of thirst sensation, the children remained chronically hypernatremic. An intellectual deficiency was present, with a dysmorphic syndrome unrelated to a biochemically determined central nervous system disorder, or an X fragility. Calcifications of basal ganglia and frontal lobes were discovered on a cerebral computed tomography performed at 16 and 18 years. This syndrome may represent a specific entity.


Subject(s)
Brain Diseases/genetics , Calcinosis/genetics , Diabetes Insipidus/genetics , Diabetic Nephropathies/genetics , Hypernatremia/genetics , Kidney Diseases/genetics , Adult , Chronic Disease , Follow-Up Studies , Humans , Male , Pedigree
20.
Pediatrie ; 47(7-8): 565-8, 1992.
Article in French | MEDLINE | ID: mdl-1336170

ABSTRACT

The relationship between 24 hour urinary calcium excretion (U Ca/24 h) and urinary calcium/creatinine ratio (U Ca/creat) measured for morning and evening urine samples was studied in 56 children aged 4-15 years and hospitalized for benign conditions. Depending on the length of hospitalisation, 1 to 3 determinations of U Ca/24 h and U Ca/creat ratio were carried out for each child. Mean +/- SD U Ca/24 h was 0.05 +/- 0.058 mmol/kg. Mean U Ca/Cr, expressed in mmol/mmol, was 0.368 for total 24 h urine, 0.358 for the morning sample and 0.358 for the evening sample respectively. A good correlation was found between U Ca/24 h and 24 h U Ca/Cr ratio (r = 0.89), morning U Ca/creat (r = 0.83) and evening U Ca/creat ratio (r = 0.81) respectively. It is concluded that determination of the U Ca/Cr ratio for morning or evening urine samples is an efficient means of detecting hypercalciuria.


Subject(s)
Calcium/urine , Creatinine/urine , Adolescent , Child , Child, Preschool , Humans , Reference Values
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