Biomedical subjects
Publications and source records attributed to G Baujat.
Infantile rumination can be defined as self-induced regurgitation of previously swallowed food. Because it can lead to potential somatic complications and because it implies dysfunctional mother-child bonding, both a pediatric and psychiatric approach is needed. The treatment must be somatic (nutritional) and psychological (intensive nursing, mother-baby psychotherapy). Two case studies illustrate this rare but impressive picture.
BACKGROUND: Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10% of non-Japanese cases of Sotos. In contrast, a recurrent approximately 2 Mb microdeletion has been reported as responsible for approximately 50% of Japanese cases of Sotos. METHODS: We screened 471 cases for NSD1 mutations and deletions and identified 23 with 5q35 microdeletions. We investigated the deletion size, parent of origin, and mechanism of generation in these and a further 10 cases identified from published reports. We used "in silico" analyses to investigate whether repetitive elements that could generate microdeletions flank NSD1. RESULTS: Three repetitive elements flanking NSD1, designated REPcen, REPmid, and REPtel, were identified. Up to 18 cases may have the same sized deletion, but at least eight unique deletion sizes were identified, ranging from 0.4 to 5 Mb. In most instances, the microdeletion arose through interchromosomal rearrangements of the paternally inherited chromosome. CONCLUSIONS: Frequency, size, and mechanism of generation of 5q35 microdeletions differ between Japanese and non-Japanese cases of Sotos. Our microdeletions were identified from a large case series with a broad range of phenotypes, suggesting that sample selection variability is unlikely as a sole explanation for these differences and that variation in genomic architecture might be a contributory factor. Non-allelic homologous recombination between REPcen and REPtel may have generated up to 18 microdeletion cases in our series. However, at least 15 cannot be mediated by these repeats, including at least seven deletions of different sizes, implicating multiple mechanisms in the generation of 5q35 microdeletions.
OBJECTIVE: Rotavirus nosocomial infection (RNI) is frequent in pediatric units. This study was designed to determine the incidence and the main risk factors of RNI in children aged 3 months-3 years and admitted for at least 48 hours days during the epidemic period. PATIENTS AND METHODS: A stool sample was obtained within the 24 hours of admission. An additional sample was collected from rotavirus-negative children either the day of discharge, or when they developed abnormal clinical signs. Parents were contacted by phone after discharge. Children initially rotavirus-negative and positive 2 days or more after admission were considered as certain nosocomial cases. In the absence of the second sample, possible nosocomial cases were considered if new symptoms (i.e.; fever and or digestive symptoms) occurred 2 days or more after the first negative sample. RESULTS: One hundred and seventeen children were included. The incidence was 11.1% for certain NRI, 16.8% for possible hospital-acquired cases and 19.4% for the whole cases. Possible risk factors were the low number of nurses during the weekend, the great number of medicine students in the unit, and no use of individual material. CONCLUSION: NRI have a high incidence, whose reality can only be approximated by taking into account the possible NRI occurring at home after hospital-discharge.
OBJECTIVE: To report the first case of a 46XX female infant with Smith-Lemli-Opitz syndrome (SLOS), adrenal insufficiency and abnormal genitalia. METHODS: The patient was assessed for hormonal status on day 4 and 6 months later and was followed-up from the study time (2.5 years of age). RESULTS: The patient had a persistent urogenital sinus, posterior labial fusion without clitoromegaly. She presented with a salt-wasting syndrome on day 4. Adrenal insufficiency was confirmed. Adrenal androgen levels, including 17-hydroxyprogesterone and 11-deoxycortisol were moderately elevated. CONCLUSION: Children with SLOS should be assessed for adrenal insufficiency. In female infants, abnormal external genitalia can be observed even if the precise mechanism behind these abnormalities is yet to be determined.
Childhood cancer has often been considered as a problem mainly affecting industrialized countries. In reality more than half of cases occur in developing countries where management and diagnosis are major issues. This retrospective study includes 130 children (0.3% of admissions) between the ages of 0 and 15 years hospitalized for malignant disease at the Principal Hospital in Dakar, Senegal between January 1, 1990 and December 31, 2000. Mean age was 97 months and M/F sex ratio was 1.2. Mean delay for admission was 3 months. The five most frequent cancers, accounting for 75% of cases, were leukemia (n = 28), lymphoma (n = 21), nephroblastoma (n = 21), retinoblastoma (n = 16) and osteochondrosarcoma (n = 10). Treatment was completed in 18% of cases. Half of patient were lost from follow-up. The cure rate was 10% overall and 50% for patients receiving complete treatment. The highest cure rate was achieved for nephroblastoma, i.e., 58% of cases treated. Management of childhood cancer in Africa is confronted with numerous problems, namely, paucity of specialized staff, absence of expert centers, shortage of anticancer drugs, lack of financial resources, and delay in treatment. These factors associated with frequent malnutrition and recurrent infectious diseases, greatly lower cure rates in comparison with industrialized countries.
BACKGROUND: Feeding disorders are one of the main clinical features in PRS, which combines a posterior U-shaped cleft palate, retrognathia, and glossoptosis. The aim of this study was to evaluate the oral and esophageal motor function of children with PRS without additional neurologic symptoms. METHODS: All children hospitalized with Pierre Robin syndrome either isolated (n = 27) or associated with Stickler syndrome (n = 8) were included. Clinical evaluation of their oroesophageal disorders and systematic esophageal manometry were performed. RESULTS: Feeding disorders were always present, but type of disorder varied from one child to another. Esophageal disorders were frequent and seemed to be resistant to classic gastroesophageal reflux treatment. Eighty-six percent of the children required nasogastric tube feeding for a mean duration of 8.6 months. Esophageal manometric abnormalities were noted in 50% of the children: lower esophageal sphincter hypertonia, failure of lower esophageal sphincter relaxation at deglutition, and esophageal dyskinesia. These clinical and manometric disorders showed a trend to spontaneous regression after 12 months. CONCLUSION: In the current Pierre Robin syndrome series, clinical and manometric anomalies of oroesophageal motility were always present. The authors identified an unusual manometric pattern that has also been described in situations of neurovegetative instability. It could reflect dysregulation of the control of the central pattern generators of swallowing in the brain stem.
UNLABELLED: Paediatricians frequently find early feeding disorders in neonates and infants that result in poor weight gain and which sometimes have no clear organic basis. For many years, we have observed infants with unexplained poor feeding skills and excessive regurgitation, and since 1992 we have prospectively performed oesophageal manometry in infants hospitalized for retarded growth and "unexplained" feeding disorders. From the group of infants hospitalized for growth failure in the General Paediatric Unit of Necker-Enfants Malades Hospital from 1992 to 1997, we identified 16 children (3%) with abnormal feeding behaviour who had an abnormal oesophageal manometry. The manometric data of these children were compared with those of a group of 16 age-matched children who underwent oesophageal manometry for other reasons, and served as controls. The affected children had precocious feeding skills disorders: prolonged bottle-feeding (75%), bottle refusal (75%), unexplained crying (63%) and excessive regurgitation (94%). Half of them had mild anatomical facial consequences of their poor foetal sucking, and mild pharyngolaryngeal hypotonia, which could not be considered as malformations. Apart from these disorders, their clinical status was normal. At inclusion, their oesophageal manometry was abnormal, showing in 70% of cases specific anomalies: lower oesophageal sphincter hypertonia and/or partial failure to relax, and giant waves of oesophagus body. Their course was good and their feeding difficulties decreased around the end of the first year, with the acquisition of normal voluntary mastication. CONCLUSION: We suggest that the early feeding resistance of this group of children could be related to an organic and transient neonatal oro-oesophageal dyskinesia.
UNLABELLED: Meningitis due to Escherichia coli is rare, and generally observed in very particular circumstances, such as neonatal period, anatomical anomalies or in immune-deficient patients. CASE REPORT: A 16-month-old male infant was admitted for acute meningitis. E coli was detected in the cerebro-spinal fluid (CSF). As appropriate antibiotic treatment proved inefficient, a cerebral computerised tomography (CT) scan was performed, revealing an epidermoid cyst of the posterior fossa. The cyst was resected after CSF sterilisation. Postoperative recovery was satisfactory. CONCLUSION: When an unusual bacterial species such as E coli is detected in CSF, the authors suggest consideration of a cutaneous or ETN focus, or a congenital malformation with communication between cutaneous and meningeal structures.
The influence of age on the clinical presentation of severe malaria and especially on its two most commonly encountered manifestations, cerebral malaria and severe anaemia, has been retrospectively examined in 161 children (< 16 years old) admitted in the paediatric department of Hospital Principal de Dakar from January 1st 1990 to February, 29th 1996. They lived in Dakar and its suburbs, a region of Senegal were the malaria transmission rate is very low. Cases were defined by at least one of the World Health Organization criteria of severe malaria and the presence of Plasmodium falciparum in blood smears. Severe anaemia was present in 73.1%, 52.1% and 26.2% cases of severe malaria among children aged 0-3 years, 4-7 years and 8-15 years, respectively, (p < 0.0001). The frequency of cerebral malaria was 11.3%, 28.2% and 60.6% in the same age groups, respectively, (p < 0.0001). Severe anaemia and cerebral malaria were associated in 8.7% of the cases of severe malaria. The fatality rate was significantly lower in cases of severe anaemia without cerebral malaria (3%) than in cases of cerebral malaria without severe anaemia (17.5%; p < 0.02). Among young children, severe anaemia was associated with brief hyperparasitaemia or with prolonged lower parasitaemia. Other things being equal, older patients had a lower risk of severe anaemia. The results suggest that the high prevalence of severe anaemia in young children, even in an area of very low endemicity, depends more on age and parasitaemia than on the transmission level.
The influence of age on the clinical presentation of severe malaria and especially on its 2 most commonly encountered manifestations, cerebral malaria and severe anaemia, has been retrospectively examined in 161 children (< 16 years old) admitted to the paediatric department of Hôpital Principal de Dakar from 1 January 1990 to 29 February 1996. They lived in Dakar and its suburbs, a region of Senegal where the malaria transmission rate is very low. Cases were defined by at least one of the World Health Organization criteria of severe malaria and the presence of Plasmodium falciparum in blood smears. Severe anaemia was present in 73.1%, 52.1% and 26.2% cases of severe malaria among children aged 0-3 years, 4-7 years and 8-15 years, respectively (P < 0.0001). The frequency of cerebral malaria was 11.3%, 28.2% and 60.6%, respectively, in the same age groups (P < 0.0001). Severe anaemia and cerebral malaria were associated in 8.7% of the cases of severe malaria. The fatality rate was significantly lower in cases of severe anaemia without cerebral malaria (3%) than in cases of cerebral malaria without severe anaemia (17.5%; P < 0.02). Among young children, severe anaemia was associated with brief hyperparasitaemia or with prolonged lower parasitaemia. Other things being equal, older children had a lower risk of severe anaemia. The results suggest that the high prevalence of severe anaemia in young children, even in an area of very low endemicity, depends more on age and parasitaemia than on the transmission level.