Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted. Conclusion In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of “metabolic stroke”. Received: 24 March 1998 / Accepted in revised form: 29 December 1998     

Connatal tuberculosis in an extremely low birth weight infant: case report and management of exposure to tuberculosis in a neonatal intensive care unit

A case of connatal tuberculosis in an extremely low birth weight infant is reported. The patient was a female with a birth weight of 973 g born in the 27th week of pregnancy. She developed respiratory distress and signs of infection immediately after birth, which did not respond to mechanical ventilation, antibiotics, and corticosteroid therapy. Connatal tuberculosis was confirmed at 48 days of age by isolation of Mycobacterium tuberculosis from the infant's tracheal aspirate and the mother's menstrual discharge. The infant died of respiratory failure at 90 days of age. Mantoux tuberculin skin tests (TST) were performed on 99 infants, 144 medical staff members, and two family members. TST conversion occurred in three medical staff members, and preventive therapy with isoniazid was initiated. Eight exposed infants had normal chest X-rays and negative gastric aspirates for acid-fast bacilli and all received preventive isoniazid therapy. No case of tuberculosis developed during the 2-year follow-up period. Conclusion Connatal tuberculosis should be considered in neonatal respiratory infection resistant to antibiotics. Prevention of transmission of tuberculosis on the neonatal intensive care unit by chemoprophylaxis is important. Received: 14 March 2000 / Accepted: 13 September 2000     

Snoring, noisy breathing in sleep and daytime behaviour in 2–4-month-old infants

The study aimed at evaluating possible associations between snoring and/or noisy breathing in sleep and daytime behaviour in 2–4-month-old infants using the Early Infancy Temperament Questionnaire (EITQ) as a tool. It covered the period from 1997 to 1998 and comprised 200 randomly selected clinically healthy infants aged 2–4 months from the community who were singletons and born in St. Petersburg within the chosen period. The mothers were asked to complete the questionnaires addressing infant, maternal, and major demographic characteristics, some infant care practices as well as the infant's habitual breathing symptoms during sleep. As a part of interview, the mothers answered the EITQ consisting of 76 items which describe different aspects of infant behaviour. Groups of questions were added according to a scoring sheet to produce total scores describing nine different aspects of infant temperament: activity, rhythm, approach, adaptability, intensity, mood, persistence, distractibility and threshold. In 129 cases (64.5%), mothers reported no respiratory disturbances during sleep in their infants. Mothers of ten infants (5.0%) described their babies as habitual snorers; 48 babies (24.0%) were characterised as having other than snoring noisy breathing during sleep, and 13 (6.5%) habitually had both snoring and noisy breathing. Symptomatic infants were rated as being moodier when awake compared with asymptomatic ones and most moodiness was the feature of those infants who had both snoring and noisy breathing during sleep. These associations remained after adjustment had been made for major potential confounders. Conclusion Snoring and noisy breathing during sleep, rather common symptoms in young infants, may be associated with specific behavioural disturbances, and moody infants should be investigated carefully for possible obscure respiratory problems. Received: 7 December 1999 and in revised form: 24 March 2000 / Accepted: 3 April 2000     

Respiratory distress in a neonate with an enlarged thymus

 Thymic hyperplasia, although not a rare condition in infancy, is usually asymptomatic. We describe an infant presenting in the perinatal period with marked tachypnoea. An enlarged thymus, demonstrated on chest radiograph and CT, was associated with small-volume, non-compliant lungs. Other causes of pulmonary malfunction and maldevelopment were excluded. Conclusion Thymic enlargement is unusually associated with neonatal respiratory distress but should be considered in the differential diagnosis. Received: 9 March 1999 and in revised form: 7 July 1999 / Accepted: 31 August 1999     

Respiratory muscle rigidity in a preterm infant after use of fentanyl during Caesarean section

Fentanyl is in many neonatal intensive care units the sedative of choice. One side-effect is, however, the possibility of muscle and/or chest wall rigidity. A pregnant woman with a critical pulmonary valve stenosis had a balloon dilatation at 26 weeks of gestation. She was put on propranolol, but went into a severe cardiac failure. In week 31, she developed pregnancy induced hypertension. Periodically absent diastolic flow in the umbilical cord was demonstrated. A Caesarean section was performed using fentanyl as analgesia. A boy weighing 1440 g, had a 1 min Apgar score of 3 without respiratory movements. Mask ventilation was tried, but chest wall expansion was not achieved despite using high pressures. He was intubated and positive pressure ventilation attempted, with the same result. Despite the use of high pressures up to 60–70 cm H₂O, no chest movement could be achieved. An intravenous line was established in order to give naloxone and pancuronium. Just before the drugs were given, chest wall movements were achieved and the heart rate normalized. Conclusion This is the first report on chest wall rigidity in a neonate after administration of fentanyl to the mother during Caesarean section. Received: 15 August 1997 and in revised form 30 January 1998 / Accepted 3 February 1998     

Focal grey matter heterotopias in monozygotic twins with developmental language disorder

We describe 9-year-old monozygotic male twins with a developmental language disorder of the phonologic-syntactic type and learning difficulties. High-resolution MRI revealed bilateral parieto-temporal grey matter heterotopias in both twins, on the left more than on the right, and more pronounced in the more affected twin. This suggests a causal relationship between the heterotopias and the neuropsychological findings in this twin pair. Conclusion Neuronal migration defects and ensuing focal heterotopias may be causally related to developmental language disorders. Received: 17 September 1997 / Accepted: 2 March 1998     

Necrotising pneumonitis in children

We retrospectively analysed the clinical features and outcome of children under 17 years of age with necrotising pneumonitis (NP). The radiographs and CT scans of the chest of children under 17 years of age between July 1995 and March 1999 who had complicating community-acquired pneumonia were reviewed. CT scans were obtained for persistent fever, respiratory distress and sepsis despite empiric antibiotic therapy and closed tube drainage. A total of 21 children had the radiographic features of NP of whom 11 (52%) patients were successfully managed using antibiotic therapy with or without closed tube drainage. Ten patients required thoracoscopic decortications and/or lysis of pleural adhesions or debridement of empyema due to refractory pleural sepsis, failure of pulmonary re-expansion and persistent air-leaks. The most common pathogens identified were Streptococcus pneumoniae (n=3),Staphylococcus aureus (n=2), and Haemophilus influenzae type b (n=2). The days of hospital stay, duration of fever and days of C-reactive protein return to normal were significantly less for the medically versus the surgically treated children (P < 0.05). Conclusion The clinical course of necrotising pneumonitis in children following complicated pneumonia is often prolonged despite adequate antibiotic therapy. Necrotising pneumonitis with co-existing multiple loculations, pneumothorax/bronchopleural fistula in the empyema and extensive pleural peel are poor prognostic factors for medical therapy. Thoracoscopic removal of loculated empyema, lysis of adhesions and/or decortication are effective in relieving tachypnoea, chest pain, and controlling fever and improve the outcome, especially in children with empyema. Received: 6 November 1999 and in revised form: 8 February and 12 March 2000 Accepted: 27 March 2000     

The complement component C4 in sudden infant death

The aim of the present study was to compare partial deletions of the complement C4 gene in victims of totally unexplained sudden infant death (SID) (n = 89) and borderline SID (n = 15) with and without slight infections prior to death, in cases of infectious death (n = 19), and in living infants with and without infections (n = 84). The SID and borderline SID groups were pooled. In this total SID group slight infections prior to death was associated with deletion of either the C4A or the C4B gene (P = 0.033), and the SID victims with such infections had a higher deletion frequency than the controls (P = 0.039). There were no differences between the living infants with and without upper airway infections. Conclusion The present study confirms that partial deletions of the C4 gene in combination with slight upper airway infections may be a risk factor in sudden infant death. Received: 8 June 1998 / Accepted in revised form: 7 September 1998     

Treatment of hyperinsulinaemic hypoglycaemia with nifedipine

We report on two children with mild persistent hyperinsulinaemic hypoglycaemia. In both, oral nifedipine treatment (0.7 and 2.0 mg/kg per day respectively) had a significant clinical effect. In one case, nifedipine monotherapy prevented hypoglycaemia; in the second case, the dosage and the side-effects of other substances could be reduced, thus circumventing surgical therapy. Conclusion Nifedipine treatment has a favourable effect on the clinical course of patients with mild hyperinsulinism. It represents a valuable new substance for the treatment of this disorder. Received: 3 March 1998 / Accepted: 3 August 1998     

Pasteurella multocida meningitis in infancy – (a lick may be as bad as a bite)

Pasteurella multocida is the commonest cause of local infection after an animal bite, but is an unusual cause of meningitis. We report a case of P. multocida meningitis occurring in a 7-week-old infant which was contracted after non-traumatic contact with a household pet, that is, without any animal bite or scratch. The organism may be easily confused with more common Gram-negative pathogens. In this case, it was initially incorrectly diagnosed as Haemophilus influenzae type b (Hib); a possibility which has important implications in the era of routine use of Hib vaccine in infant immunisation programs. Conclusion Pasteurella multocida is an unusual, but serious cause of meningitis in infancy. It is potentially preventable by the avoidance of contact between young infants and the saliva of household pets, in particular by assiduous hand hygiene. Received: 13 March 1998 / Accepted in revised form: 17 February 1999     

Supernumerary nipples: prevalence, size, sex and side predilection – a prospective clinical study

The purpose of the following clinical study was to determine the prevalence, size, sex and side predilection of supernumerary nipples. Out of 502 patients, 28 (5.6%) exhibited a supernumerary nipple of small (only areola with diameter less than 30% of normal areola) or middle size (areola with nipple, diameter 30%–50% of normal areola). The male/female ratio was 20/8 and left/right side ratio 15/7 in males and 5/4 in females. Conclusion A supernumerary areola or a supernumerary areola with nipple is a frequent finding. There is a higher prevalence for the left side and male gender. Received: 2 December 1997 / Accepted in revised form: 31 March 1998     

Haemophagocytosis in early congenital syphilis

A previously healthy male infant developed hepatosplenomegaly, severe anaemia and thrombocytopenia 5 weeks after birth. Marked haemophagocytosis was present in the bone marrow. A typical maculopapular rash suggested early congenital syphilis. The diagnosis was confirmed by serology and by the presence of untreated syphilis in both parents. Conclusion Syphilis needs to be excluded in infants suspected of haemophagocytic lymphohistiocytosis. Received: 8 April 1998 / Accepted in revised form: 2 November 1998     

What is the infection risk of oesophageal dilatations?

Oesophageal dilatation is the most widely used treatment option for the management of oesophageal strictures. Complications include bleeding, a slight increase in body temperature, thoracic or abdominal pain, oesophageal perforation, brain abscess and bacteraemia. We performed a prospective study to evaluate the frequency of postdilatation bacteraemia in nine patients subjected to a total of 50 dilatations. Bacteraemia was detected in 36 cases (72%), In all but three cases, however, it was transient and not associated with fever or other clinical complications. The organisms most commonly responsible (64%) were alpha-haemolytic streptococci (Streptococcus viridans), probably originating as contaminants from the oropharynx and oesophagus and introduced into the bloodstream during dilatation. Despite the relatively low incidence of bacteraemia-related postdilatation complications, the potential severity of such complications argues for the use of antibiotic prophylaxis as a routine measure prior to oesophageal dilatation. Conclusion Oesophageal dilatation is associated with a high incidence of bacteraemia. The organisms most commonly responsible were alpha-haemolytic streptococci. We recomend the use of antibiotic prophylaxis as a routine measure prior to oesophageal dilatation. Received: 23 September 1997 / Accepted: 3 March 1998 and in revised form: 24 February 1998     

Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation

A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal. Conclusion These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia. Received: 4 November 1998 / Accepted in revised form: 11 March 1999     

Impact of new treatments for respiratory failure on outcome of infants with congenital diaphragmatic hernia

Term and near-term newborn infants with congenital diaphragmatic hernia (CDH), symptomatic in the first 24 h of life or diagnosed antenatally, without other significant malformations were treated at our hospital with high-frequency oscillatory ventilation (HFOV) as a primary modality of ventilation and elective delay in surgical repair after a period of stabilisation. When unresponsive to HFOV, infants were treated with surfactant, inhaled nitric oxide (iNO) and extracorporeal membrane oxygenation (ECMO) to achieve pre-operative stabilisation. From October 1994 to August 1998, 28 newborn infants with CDH were managed with such treatment; mean birth weight was 3184 ± 535 g and gestational age 38.5 ± 1.85 weeks. Age at operation was 68 ± 35 h. In 9 cases, large diaphragmatic defects required the use of a prosthetic patch (Gore-tex). HFOV was used for primary ventilation in inborn patients (n = 16); outborn infants (n = 12) were placed on HFOV at admittance. A total of 15 patients (53%) were stabilised using only HFOV. Bovine surfactant was administered in 12 infants and 4 responded. iNO was used in eight infants and five responded. ECMO was used in three outborn patients and one survived. Overall, out of 28 infants, 25 survived (89%). Neurological examination (Amiel-Tison and Grenier) of 15 infants showed transient anomalies at 6 months in 40% of infants, while a normal neurological examination was present in all patients at 1 year. The development quotient (Griffiths scales) was within normal values in ten and mildly abnormal in two infants tested at 1 year. Conclusion Management based on early HFOV, eventually associated with surfactant, iNO and ECMO to achieve preoperative stabilisation, resulted in a good survival rate (89%) and good neurodevelopmental outcome at 1 year of age in infants with CDH. Received: 10 November 1998 and in revised form: 3 March 1999 / Accepted: 16 March 1999     

Homozygous α-thalassaemia and hypospadias – common aetiology or incidental association?

Fetuses with homozygous α-thalassaemia develop Hb Bart's hydrops fetalis syndrome, which usually leads either to abortion or fetal/neonatal death. We report diagnosis, intrauterine transfusion therapy, neonatal intensive care management and long-term follow-up of a Vietnamese infant who survived Hb Bart's hydrops fetalis syndrome. During the first 2 years the child had normal development. In addition, the patient exhibited penoscrotal hypospadias. Despite a thorough endocrinological work-up the aetiology of genital ambiguity could not be elucidated. A review of the literature showed an association of homozygous α-thalassaemia and hypospadias in all surviving male children, suggesting a common aetiology for both entities. Conclusion On the basis of our findings, we speculate that an unknown gene on chromosome 16 responsible for genital formation is altered in homozygous α-thalassaemia. Received: 4 May 1998 / Accepted in revised form: 24 July 1998     

Comparison of albumin versus bicarbonate treatment for neonatal metabolic acidosis

In this study the effectiveness of 4.5% human albumin was compared with 4.2% sodium bicarbonate for neonatal metabolic acidosis, using a randomised controlled trial. The change in median pH following bicarbonate was more than twice that in the albumin group. This was statistically significant. Conclusion In normotensive infants, use of bicarbonate to correct metabolic acidosis may be more effective than use of albumin. Received: 5 March 1998 / Accepted in revised form: 7 July 1998     

Myelofibrosis: an unusual presentation of vitamin D-deficient rickets

We present the case of a breast-fed 5-month-old infant who presented with pancytopenia, secondary to intense myelofibrosis during the winter months because of undiagnosed rickets. The patient responded to oral vitamin D with rapid resolution of symptoms. Secondary hyperparathyroidism was the probable cause of the myelofibrosis. Conclusion Although nutritional rickets remains a problem in developing countries, children in northern climates in industrialized countries may also be at risk. Rickets must be considered when assessing myelofibrosis in a very young child. Received: 3 February 1998 / Accepted in revised form: 24 February 1999     

Cat-scratch disease simulating a malignant process of the chest wall

Cat-scratch disease is a well-known cause of regional adenopathy in immunocompetent children. Rarely, patients may present with symptoms simulating a neoplastic disease. The case of a 12-year-old boy with fever, swelling of the chest wall and hepatosplenic nodules is reported. Histological analysis of biopsy specimen obtained from the chest wall lesion and the liver revealed granulomatous reaction without malignant cells. Serological investigations were positive for Bartonella species. The symptoms and the lesions disappeared after oral antibiotic therapy (ciprofloxacin) was started. The patient remained symptom-free 12 months later. Conclusion The present case emphasizes the wide spectrum of clinical manifestations associated with cat-scratch disease which should be investigated as differential diagnosis of manifestations suggesting a neoplastic disease in children. Received: 10 February 1998 / Accepted in revised form: 5 August 1998     

Necrotising enterocolitis: is there a relationship to specific pathogens?

Outbreaks of necrotising enterocolitis (NEC) have often been related to specific pathogens such as Enterobacteriaceae. This relationship, however, remains uncertain because of the retrospective nature of the studies addressing this issue. We performed a prospective study to investigate whether there is indeed an association between NEC and specific pathogens. Between April 1993 and March 1997, stools of neonates of <36 weeks admitted to our neonatal unit were investigated for bacteria in weekly intervals. Clinical and bacteriological data from each infant who developed NEC were compared with those from two control infants matched for gestational age and date of admission. Eighteen infants developed 19 episodes of NEC (clinical signs + air in portal vein); 8 of these had laparotomy; two died. Occurences of NEC were homogeneously distributed over the 4- year study period. The only significant differences in the clinical course prior to NEC were a more severe stage of respiratory distress syndrome [median 2 (0–4) vs. 0 (0–3), P < 0.05] and a higher proportion of infants who had only been formula fed (63 vs. 32%, P < 0.05) in the cases. Within the last week prior to NEC, potentially pathogenic bacteria were identified in stools of all cases and 79% of controls (P < 0.05). However, there was no significant difference in the occurrence of specific pathogens or groups of pathogens in cases compared with controls. Conclusion Although gut colonisation with potential pathogens appeared to be a prerequisite for the development of NEC, there were no specific bacteria associated with this disease if data from infants with NEC were compared with those from time- and gestational age-matched controls. Received: 5 September 1997 / Accepted in revised form: 2 March 1998