ABSTRACT
UNLABELLED: Apart from spinal muscular atrophy (SMA) and myotonic dystrophy type 1 (DM1), congenital neuromuscular diseases with early neonatal symptoms mean diagnostic and prognostic challenges mainly when infants require ventilatory support. OBJECTIVES: Consider a standardized strategy for infants suspected of congenital neuromuscular disease from analysis of the literature and retrospective experience with floppy and ventilatory support-dependent infants, after exclusion of well-known diseases (DM1, SMA). PATIENTS AND METHODS: Floppy infants requiring ventilatory support in their 1st month of life, but showing no evidence of DM1, SMA, Prader-Willi syndrome, or encephalopathy. The retrospective multicenter study was based on the response of regional referent neuropediatricians in the Reference Centre for Neuromuscular Diseases of Greater Southwest France to an inquiry about prenatal and perinatal history, investigations, diagnosis, and outcome of the child and family. It was conducted between 2007 and 2012. RESULTS: Among the 19 newborns studied, all had severe hypotonia. Prenatal and perinatal features were similar. Their outcome was generally severe: the median survival as measured by the Kaplan-Meier method was 6.9 months. Thirteen children died at a median age of 61 days; ten of them were treated with a palliative procedure. Five children had achieved respiratory independence but suffered from a small delay in motor development. Among the three children who continuously required ventilatory support, only one survived (follow-up period: 23 months); he was the only one undergoing tracheostomy in the cohort. Diagnostic processes were different, leading to pathological and genetic diagnosis for only six infants. There was only histological orientation for seven and no specific diagnostic orientation for the last six. These difficulties have led us to propose an exploration process based on the literature. CONCLUSION: This study highlights difficulties in obtaining a diagnosis and a precise prognosis for floppy ventilated infants. An exploration-standardized process for infants suspected of congenital neuromuscular diseases was made in order to standardize procedures. It could be used as a tool for all professionals involved.
Subject(s)
Heredodegenerative Disorders, Nervous System/diagnosis , Heredodegenerative Disorders, Nervous System/mortality , Respiratory Insufficiency/mortality , Female , Follow-Up Studies , France/epidemiology , Heredodegenerative Disorders, Nervous System/genetics , Humans , Infant , Infant, Newborn , Male , Palliative Care , Respiration, Artificial , Respiratory Insufficiency/therapy , Retrospective StudiesABSTRACT
In Western populations, especially in France, most severe influenza cases are observed in adults. Some cases are also recorded in children, especially influenza-associated encephalitis. This is contrary to what occurs in Japan where influenza-associated encephalitis is frequent and severe in children. We describe three cases of influenza-associated encephalitis in children who were hospitalized in the pediatric intensive care unit (PICU) during the winter of 2012-2013. The patients did not necessarily show the usual symptoms of influenza and were admitted to the PICU because of their severe neurological symptoms. Two children showed multiple-organ failure, as in the cases reported in Japan. The outcomes ranged from small residual signs to death. These cases remind us that the severe influenza complications that are common in Japan are also seen in France.
Subject(s)
Encephalitis, Viral/diagnosis , Influenza A virus , Influenza B virus , Influenza, Human/diagnosis , Acyclovir/therapeutic use , Brain/pathology , Brain Death , Brain Edema/diagnosis , Child, Preschool , Combined Modality Therapy , Electroencephalography , Encephalitis, Viral/therapy , Fatal Outcome , Female , Follow-Up Studies , Humans , Hypoxia-Ischemia, Brain/diagnosis , Infant , Influenza, Human/therapy , Magnetic Resonance Imaging , Male , Neurologic Examination , Recurrence , Tomography, X-Ray ComputedSubject(s)
Antirheumatic Agents/therapeutic use , Arthritis, Juvenile/complications , Cardiac Tamponade/drug therapy , Interleukin-1/antagonists & inhibitors , Adolescent , Arthritis, Juvenile/blood , Arthritis, Juvenile/drug therapy , Cardiac Tamponade/diagnosis , Cardiac Tamponade/etiology , Diagnosis, Differential , Electrocardiography , Female , Follow-Up Studies , Humans , Interleukin 1 Receptor Antagonist Protein/therapeutic use , Interleukin-1/blood , Radiography, ThoracicABSTRACT
Three infants aged less than 2 months were hospitalized for malignant pertussis. Echocardiography showed pulmonary hypertension. High-frequency oscillations and nitric oxide were ineffective. Respiratory and hemodynamic conditions deteriorated secondarily. The third case received an exchange transfusion without success. All three infants died following multiorgan failure. Malignant pertussis is the leading cause of infectious death in infants less than 2 months of age, treatment is often ineffective, and prevention, targeting the population of young adults, is particularly important.
