ABSTRACT
Ondine syndrome is the central congenital hypoventilation syndrome (CCHS) caused by the mutation of the PHOX2B gene. In late onset cases, the symptomatology often appears after an acute event (infection, general anesthesia, drug intake), increasing hypoventilation. We report a case of late onset Ondine curse in a 9-year-old girl. The diagnosis was made based on a hypercapnic coma complicating a respiratory infection caused by Mycoplasma pneumoniae and was confirmed by genetic testing. In the patient's history we found symptoms that had not been noted (e.g., enuresis, morning headache, adynamia), attesting to chronic hypoventilation. Through this observation, we review the literature on CCHS, notably late onset cases, which are rare and insidious, emphasizing the pre-existing hypoventilation symptoms in this child. This case underlines the need for all practitioners not to trivialize these symptoms so as to decrease the current delay in diagnosis for late onset CCHS and to introduce optimal care as soon as possible.
Subject(s)
Delayed Diagnosis , Sleep Apnea, Central/diagnosis , Base Pairing/genetics , Child , DNA Mutational Analysis , Diagnosis, Differential , Exons/genetics , Female , Genetic Carrier Screening , Genetic Testing , Genotype , Homeodomain Proteins/genetics , Humans , Hypercapnia/diagnosis , Hypercapnia/therapy , Pneumonia, Mycoplasma/complications , Pneumonia, Mycoplasma/diagnosis , Pneumonia, Mycoplasma/therapy , Polysomnography , Respiration, Artificial , Resuscitation , Shock, Cardiogenic/diagnosis , Shock, Cardiogenic/therapy , Sleep Apnea, Central/genetics , Sleep Apnea, Central/therapy , Transcription Factors/geneticsABSTRACT
Between September 1986 and June 1997, 24 children with high-risk ALL in CR1 were allografted after TAM (fractionated TBI, high-dose Ara-C, and melphalan; n = 10) or BAM protocol (busulfan, high-dose Ara-C, and melphalan; n = 14). The EFS for transplants from sibling donors was 33% with TAM and 62% with BAM (P = 0.148). The probability of acute GvHD was 70% with TAM and 15% with BAM (P = 0.003). Four of 17 evaluable patients relapsed: one after TAM and three after BAM. In all, 46 other children transplanted in CR beyond CR1 were studied for sequelae. Long-term side effects were more frequent in TAM vs BAM. In children with ALL, busulfan may be a good alternative to TBI to improve the quality of life.
Subject(s)
Bone Marrow Transplantation/methods , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Transplantation Conditioning , Transplantation, Homologous/methods , Adolescent , Busulfan/administration & dosage , Child , Child, Preschool , Cytarabine/administration & dosage , Female , Graft vs Host Disease , Humans , Immunophenotyping , Karyotyping , Male , Melphalan/administration & dosage , Organophosphates/administration & dosage , Recurrence , Time Factors , Treatment OutcomeSubject(s)
Hemophilia B/complications , Nutrition Disorders/etiology , Respiratory Tract Infections/complications , Amikacin/administration & dosage , Amikacin/therapeutic use , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/therapeutic use , Anti-Infective Agents/administration & dosage , Anti-Infective Agents/therapeutic use , Ceftriaxone/administration & dosage , Ceftriaxone/therapeutic use , Cephalosporins/administration & dosage , Cephalosporins/therapeutic use , Child, Preschool , Diet , Drug Therapy, Combination/therapeutic use , Enteral Nutrition , Follow-Up Studies , Hemophilia B/therapy , Humans , Male , Metronidazole/administration & dosage , Metronidazole/therapeutic use , Nutrition Disorders/diagnosis , Nutrition Disorders/therapy , Parenteral Nutrition , Respiratory Tract Infections/drug therapy , Time Factors , Vancomycin/administration & dosage , Vancomycin/therapeutic useABSTRACT
The use of intravenous acyclovir can be particularly complicated in pediatric patients with evolving renal impairment, because of intraindividual pharmacokinetic variability linked to the patient's clinical condition. The objective of this study was to use therapeutic drug monitoring data to assess acyclovir intraindividual pharmacokinetic variability during several types of renal replacement therapy. Bayesian adaptive control of acyclovir dosage regimen was performed in a pediatric patient with bone marrow transplant who developed severe renal impairment. Acyclovir pharmacokinetic parameter values corresponding to the different techniques and periods of renal replacement therapy were estimated using USCPACK PC Clinical Programs and therapeutic drug monitoring data. Results showed a wide intraindividual pharmacokinetic variability during CAVH, CAVHDF, and CVVHD, reflecting not only the performance of each dialysis technique but also the difficulty in making use of each one. The acyclovir elimination rate constant was higher during CVVHD compared to CAVH or CAVHDF. Bayesian method appears to be valuable in assessing intraindividual pharmacokinetic variability, as it allows the clinician to deal with sparse routine patient data.
