Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature.

Hypophosphatasia (HPP) is a rare disease resulting from alterations of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. We describe a full-term boy diagnosed with perinatal HPP after birth, showing dramatic improvement after treatment with Asfotase Alfa, an enzyme-replacement therapy (ERT) prescribed in HPP cases. He initially presented with respiratory insufficiency due to bone hypomineralization, and severe pulmonary hypoplasia that required tracheostomy and invasive ventilation for 8 months. He was taken off ventilation at 41 weeks of age. He also presented complications including hypercalcemia, craniosynostosis, nephrocalcinosis, hypotonia, and a severe feeding disorder. He is still alive at 30 months of age, and his respiratory status and tonus is steadily improving. This case reflects the progression of HPP patients with specific therapy added to symptomatic management. Some aspects of the disease are now well known, such as nephrocalcinosis and craniosynostosis, related to the natural course of the disease, which persisted despite the ERT. The long-term prognosis and outcome for this newborn child remain unknown.

[Neonatal hyperthyroidism: A sometimes challenging diagnosis]. / L'hyperthyroïdie néonatale : un diagnostic parfois difficile.

Graves disease complicates two pregnancies out of 1000 and when it is known before pregnancy, it warrants careful monitoring of the fetus and the newborn. We report on a case of neonatal hyperthyroidism, which revealed a previously unknown maternal thyroid disease. In this situation, neonatal signs can be misinterpreted, delaying the diagnosis. Neonatal hyperthyroidism is, however, a therapeutic emergency because of the risk of cardiac and neurological complications. The neonatologist must identify thyroid disease in the absence of a maternal history in order to promptly start therapy.

Complete agenesis of major salivary glands.

A 4 year-old female patient was treated for persistent right-sided dacryocystitis and xerostomia. MRI was performed to screen for a dry syndrome; which resulted in the diagnosis of agenesis of the parotid and submandibular glands as well as lacrimal duct malformation. An MRI of each parent was normal. The mother's history revealed 4 days of pyrexia during the 8th week of amenorrhea. This was an isolated case, with no family history, characterized by a febrile episode during pregnancy at the period of main salivary gland genesis. Epigenetic mechanisms could be implicated.

[Mendelian susceptibility to mycobacterial disease: a case report of disseminated infection due to Mycobacterium avium]. / Syndrome de susceptibilité mendélienne aux infections mycobactériennes : à propos d'un cas d'infection disséminée à Mycobacterium avium.

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic syndrome that predisposes patients to infections caused by weakly virulent mycobacterial species, such as bacillus Calmette-Guérin (BCG) vaccines and nontuberculous environmental mycobacteria in children free of classical immunodeficiencies. This syndrome consists of impaired antimycobacterial immunity (axis IL12/INF-γ) constituting a new immune deficiency and outlining its major role in mycobacterial immunity. We report a new case of MSMD through the observation of a young girl with a disseminated infection due to Mycobacterium avium. The molecular defect was 2 autosomal recessive mutations of the IL12Rß1 gene (gene encoding for the ß1 chain of the IL12 receptor) leading to the absence of the IL12 receptor on the activated T lymphocytes' surface. IL-12RB1 deficiency is the most common genetic etiology of MSMD. Today, there are 6 MSMD-causing genes, leading to 13 distinct genetic disorders. The clinical phenotype differs between patients. The description of the molecular and immunological basis of this syndrome has allowed us to explain the pathophysiology of antimycobacterial immunity and is essential to understanding and managing these diseases.

[Sickle cell disease and invasive osteoarticular Salmonella infections]. / Drépanocytose et salmonelloses invasives ostéo-articulaires.

Non-typhi Salmonella are responsible for severe invasive infections in children with sickle cell disease, with osteoarticular locations that can affect short- and long-term outcomes. We describe the cases of 2 children with sickle cell disease who presented paucisymptomatic Salmonella osteoarticular infections on returning from North Africa. Progression was favorable in both cases after appropriate systemic antibiotic therapy, although one Salmonella was multidrug-resistant. Invasive salmonellosis remains rare in France, but, because of its severity, it should be suspected in any patient with sickle cell disease presenting fever, especially in the context of recent trips in Africa countries. Early clinical diagnosis is essential to start appropriate empirical treatment without waiting for bacteriological results.

Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. The newly revised CP classification facilitates the diagnosis. The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction. Thus, screening for arylsulfatase E mutation is mandatory for an accurate diagnosis and can lead to better delineation among CP etiologies associated with a Binder phenotype.

Fetal lung volume in congenital diaphragmatic hernia.

In a retrospective study of 22 neonates with congenital diaphragmatic hernia, fetal lung volume (FLV) measured by magnetic resonance imaging was associated with survival; the best FLV ratio cut-off to predict mortality was 30% of expected FLV. This study supports a correlation between FLV and the chances of survival.

[Emergency pediatric thoracic radiology]. / Imagerie thoracique en urgence chez l'enfant.

Pediatric thoracic emergencies are frequent and may be due to a large spectrum of lesions including traumatic and non traumatic pathologies, such as foreign bodies, mediastinal tumors, pulmonary infections, asthma, pneumothorax and delayed manifestations of congenital chest malformations. Emergencies require rapid diagnosis to make a treatment plan and in most cases, radiology plays an essential role. Plain chest radiographs remain the initial study with inspiratory films. In certain circumstances, the use of expiratory films is absolutely necessary. Ultrasonogragraphy is the primary modality for evaluation of pleural effusions. Computed tomography (CT), with volume acquisition and more rapid scanning, is a technique capable of imaging the lungs and mediastinum with excellent spatial resolution in the pediatric population. CT provides more information than chest radiographs. This explains the increasing indications of CT in the evaluation of pediatric thoracic emergencies, more particularly traumatic emergencies.