Search

Unlabelled: Vulvovaginitis is the most common gynaecological problem in prepubertal girls and clear-cut data on the microbial aetiology of moderate to severe infections are lacking. Many microorganisms have been reported in several studies, but frequently the paediatrician does not know the pathogenic significance of an isolate reported in vaginal specimens of girls with vulvovaginitis. A multicentre study was performed, selecting 74 girls aged 2 to 12 years old with a clinical picture of vulvovaginitis and inflammatory cells on Gram stain. All the specimens were cultured following standard microbiological techniques and the paediatricians completed a questionnaire to highlight risk factors after interviewing the parents or tutors. The data were compared with those obtained in a control group of 11 girls without vulvovaginitis attending a clinic. Streptococcus pyogenesand Haemophilus spp.were isolated in 47 and 12 cases, respectively. Upper respiratory infection in the previous month ( P<0.001) and vulvovaginitis in the previous year ( P<0.05) were identified as significant risk factors. Foreign bodies, sexual abuse, poor hygiene and bad socioeconomic situation were not identified as risk factors for the infection.Conclusion: Paediatric inflammatory vulvovaginitis is mainly caused by pathogens of the upper respiratory tract and the most common risk factor for this infection is to have suffered an upper respiratory tract infection in the previous month. [ABSTRACT FROM AUTHOR]

Unlabelled: Exocrine pancreatic insufficiency is an exceptional problem in children, mostly associated with diseases like cystic fibrosis, Shwachman-Diamond syndrome or chronic pancreatitis, as is the case in idiopathic fibrosing pancreatitis. Many viral infections are known to cause acute pancreatitis. Most of them, however, are transient with no remaining damage. The differential diagnosis of persisting diarrhoea after gastrointestinal infection does not routinely include a search for exocrine pancreatic insufficiency.Conclusion: This is the first description of a child with a transient but severe exocrine pancreatic insufficiency probably induced by an ordinary enterovirus infection [ABSTRACT FROM AUTHOR]

Reports on a case of acute cerebellitis during primary human herpesvirus-6 (HHV-6) infection. Warns of an invasion of the HHV-6 stimulating the host immune responses in patient; Reduction of HHV-6 antigen by treatment of acyclovir; Recommendation for an efficient therapeutic strategy such as cidofoir for better result.

Unlabelled: To evaluate the usefulness of "single stool sample" analysis in the investigation of steatorrhoea instead of 72-h stool collection, we examined 57 stool samples of patients with cystic fibrosis (CF) while on pancreatic enzyme therapy and 29 stool samples of healthy children. We compared results of fat, nitrogen, water and energy content. Fat was determined by the method of Van de Kamer et al. and the Acid Steatocrit (AS) method, water by vacuum drying, nitrogen by the Dumas method and energy was obtained using a bomb calorimeter. Results (median) for CF patients and healthy controls were significantly different (P< or =0.0001) for fat respectively: 8.90 and 4.75/100 g wet weight (ww) stool as measured by the method of Van de Kamer et al. and 28.6% and 7.2% by the AS method. Energy results for energy were also significantly (P< or =0.0001) different: 742.96 and 549.32 kJ/100 g ww stool for CF patients and healthy controls respectively. Results of single stool sample water and nitrogen were similar in both groups. These results were comparable to those of a 3-day stool collection, as reported in the literature.Conclusion: Results from single stool samples yield clinically useful information concerning fat and energy. Single stool sample analysis is therefore useful for frequent monitoring of faecal fat and energy. [ABSTRACT FROM AUTHOR]

Unlabelled: We report a case in which a 3-year-old girl with terminal deletion of the long arm of chromosome 3 had dilated cardiomyopathy, a complication that has not previously been reported in association with this chromosome abnormality. In addition to cardiomyopathy, she had intrauterine growth retardation, small eyes and mouth, a broad nose, thin lips, low-set ears, a short neck and overlapping second toes.Conclusion: due to the paucity of reported cases of 3q deletion, and the clinical variability of such cases, identification of a distinct 3q phenotype (including cardiac complications) remains elusive. [ABSTRACT FROM AUTHOR]

Unlabelled: Liver involvement is mentioned in streptococcal toxic shock syndrome, but never as fulminant liver failure (FLF). We report the case of a 2-year-old child who developed isolated FLF secondary to invasive group A streptococcal infection without shock due to a M1T1-type strain expressing speA, speB and speC toxin genes. On antibiotics, he recovered rapidly without liver transplantation.Conclusion: A streptococcal pyrogenic exotoxin likely constituted the initial insult leading to FLF. This etiology can be included in the differential diagnosis of FLF and would support early introduction of antibiotics. [ABSTRACT FROM AUTHOR]

Unlabelled: A 10-year-old girl presented left ventricular failure 1 month after the onset of hemolytic uremic syndrome (HUS) caused by an Escherichia coli O157 infection and was diagnosed as having dilated cardiomyopathy. Thallium myocardial scintigraphy showed normal perfusion, but no myocardial uptake of iodine-123-( R, S)-15-( p-iodophenyl)-3-methylpentadecanoic acid ((123)I-BMIPP) was observed. We analyzed the CD36 expression in platelets and monocytes by using a flowcytometer, and she turned out to have CD36 deficiency type I.Conclusion: Some patients may be predisposed to myocardial damage in the presence of CD36 deficiency. It is necessary to clarify the etiological significance of the relationship between cardiac impairment and CD36 deficiency in children. [ABSTRACT FROM AUTHOR]

Unlabelled: Transmesenteric hernia is a rare cause of small bowel obstruction and is seldom diagnosed preoperatively, partly because of unfamiliarity with this type of internal hernia. The clinical symptoms of internal hernia may be intermittent and nonspecific, making the diagnosis extremely difficult. We report two patients, 7- and 5-year-old girls, with mesenteric hernia of the ileum. Because of the difficulty of clinical diagnosis of internal hernia, imaging studies played a crucial role. We would like to stress the importance of plain radiological findings as diagnostic aids.Conclusion: a consistent intestinal gas imaging after some interval suggests the possibility of an internal hernia, especially accompanied with a circular or oval defect of the gas shadows in the middle of the abdomen. A serial abdominal X-ray study can be helpful in the diagnosis of internal hernia. [ABSTRACT FROM AUTHOR]

Unlabelled: Onychomadesis describes complete nail shedding from the proximal portion; it is consecutive to a nail matrix arrest and can affect both fingernails and toenails. It is a rare disorder in children. Except for serious generalised diseases or inherited forms, most cases are considered to be idiopathic. Few reports in literature concern common triggering phenomena. We present four patients in whom the same benign viral condition in childhood appeared as a stressful event preceding onychomadesis. In each case, spontaneous complete healing of the nails was achieved within a few weeks.Conclusion: Onychomadesis and/or onycholysis is a newly recognised complication in the course of viral infections presenting clinically as hand, foot and mouth disease, and because of mild forms, is probably underestimated. [ABSTRACT FROM AUTHOR]

Unlabelled: In up to 90% of cases, severe halitosis is a result of gastrointestinal or orolaryngeal problems. This case study reports on a girl with bad breath caused by increased formation of malodorous intestinal gases (halitosis), which could be successfully treated with a suspension of living non-pathogenic bacteria Escherichia coli.Conclusion: in unclear cases of bad breath, an increased formation of intestinal gases should also be considered. [ABSTRACT FROM AUTHOR]

Unlabelled: We describe a 6-year-old boy admitted with lethargy and somnolence. Laboratory tests showed hyperammonaemia (arterial level 186 micromol/l) and slightly elevated prothrombin time. The patient was treated with sodium benzoate, lactulose and a protein-restricted diet. This resulted in an insufficient decrease in blood ammonia levels. Metabolic investigations were unrevealing apart from a slightly elevated urinary glutamine concentration. Liver tissue showed steatosis and mildly decreased activity of N-acetylglutamate synthase suggesting partial deficiency. Treatment with N-carbamyl glutamate did not affect serum ammonia levels. Colour Doppler sonography and MR angiography demonstrated a patent ductus venosus. After surgical ligation of the ductus venosus, serum ammonia levels returned to normal and mental and motor performance improved markedly.Conclusion: In late onset hyperammonaemia, partial N-acetylglutamate synthase deficiency and portocaval shunt should be ruled out. [ABSTRACT FROM AUTHOR]

Unlabelled: The case of an 11-year-old child with acute myopericarditis associated with central European tick-borne encephalitis is presented. Cardiac involvement was demonstrated by pericardial effusion, elevated serum concentration of troponin-I and cardiac arrhythmia. Co-infections with enteroviruses, Borrelia burgdorferi or the agent of human granulocytic ehrlichiosis were excluded. Recovery was uneventful.Conclusion: Central European tick-borne encephalitis can be complicated by cardiac involvement. [ABSTRACT FROM AUTHOR]

Unlabelled: A boy with congenital rubella syndrome developed dysgammaglobulinaemia with elevated serum levels of IgM. CD154 was not induced on his peripheral blood mononuclear cells when rubella virus RNA was detected in his throat swabs and peripheral blood by reverse transcriptase polymerase chain reaction. Following intravenous immunoglobulin therapy, improvement of immunoglobulin abnormalities, disappearance of rubella virus and normalisation of CD154 expression were demonstrated.Conclusion: These findings implicate the efficacy of intravenous immunoglobulin therapy for dysgammaglobulinaemia in congenital rubella syndrome and a role of CD154 for a prolonged virus infection. [ABSTRACT FROM AUTHOR]

Presents a case report on a child with headaches and abnormal movements. Neonatal and family history; Results of a medical examination; Neurological symptoms; Suggestion on the linkage between normocalcemic tetany with hyperventilation and headache.

We describe two boys who had severe spinal complications in adolescence after a favorable initial recovery from neonatal Escherichia coli meningitis. Due to spinal granulomatous adhesions, one boy died after an attempted scoliosis operation (high cord lesion). The other showed severe progressive neurological deterioration with spinal and cerebellar symptoms. Conclusion The severe complication of chronic arachnoiditis with spinal adhesion may occur many years after neonatal acute bacterial meningitis. [ABSTRACT FROM AUTHOR]

Unlabelled: We report on a pair of male monozygotic twins, one unaffected and the other affected with gonadotropin-releasing hormone (GnRH)-dependent precocious puberty, and discuss the role of treatment with a GnRH analog in the attainment of full height potential in GnRH-dependent precocious puberty. At 1.6 years of age, the affected twin was studied for tall stature (+3.8 SD), and was diagnosed as having GnRH-dependent precocious puberty due to a hypothalamic hamartoma of the tuber cinereum. He was treated with oral cyproterone acetate (110-170 mg/m(2) daily) from 1.8 through 5. 0 years of age, with oral cyproterone acetate and intranasal buserelin acetate (700-900 microg/m(2) daily) from 5.0 through 7.5 years, and with intranasal buserelin acetate alone (1100- 1400 microg/m(2) daily) from 7.5 through 12.6 years. He attained a final height of 171.0 cm at 14.9 years of age (+0.10 SD) and his twin 170. 0 cm at 15.3 years of age (-0.10 SD), with their target height being 174.5 +/- 9.0 cm.Conclusion: This study indicates that GnRH analog treatment may preserve near full height potential in some patients with GnRH-dependent precocious puberty. [ABSTRACT FROM AUTHOR]

Unlabelled: The management of 32 consecutive term infants referred with persistent pulmonary hypertension of the newborn were reviewed. Despite indices suggesting severe cardiorespiratory failure with a median alveolar-arterial oxygen gradient of 591 torr (inter-quartile range 432-618) and oxygenation index of 31 (18-44), all but one patient responded to conventional treatment with inhaled nitric oxide and high frequency oscillatory ventilation.Conclusion: Patients should be referred early to centres where maximal conventional support can be offered before consideration for extracorporeal membrane oxygenation. [ABSTRACT FROM AUTHOR]

Unlabelled: We report on a patient who presented at 5 years of age with a hemiparesis due to a middle cerebral artery infarction. An embolism had originated from a mycotic aneurysm located in the internal carotid artery. For several months prior to admission he had been suffering from therapeutically resistant candidiasis of the mouth and nails. Family history revealed chronic mycotic infections of the skin, hair, nails and mouth in the father and paternal grandmother suggestive of chronic mucocutaneous candidiasis with autosomal dominant mode of inheritance. Clipping of the aneurysm, after 3 months of anti-mycotic treatment, followed by sustained treatment with itraconazole and fluconazole, led to a favourable outcome.Conclusion: Chronic mucocutaneous candidiasis can be associated with an intracranial aneurysm and complicated by cerebral infarction. [ABSTRACT FROM AUTHOR]

Unlabelled: Gilbert syndrome was diagnosed in a girl with anorexia nervosa and unconjugated hyperbilirubinaemia. Since the patient was starved and hyperbilirubinaemic, the loading test was not used for the diagnosis but analysis of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) instead. The patient was homozygous for a missense mutation that replaced guanine with adenine at nucleotide number 211 (211G-->A: G71R). The unconjugated hyperbilirubinaemia was apparently induced by the fasting state. Homozygous missense mutations of the gene have been generally recognized as responsible for Crigler-Najjar syndrome type II; the results obtained here, however, confirm that Gilbert syndrome may also be caused by a homozygous missense mutation of UGT1A1.Conclusion: Since anorexia nervosa patients are in a fasting state, they may show moderate unconjugated hyperbilirubinaemia if they have Gilbert syndrome. Gene analysis of such cases will rule out hepatic damage. Homozygous missense mutations of the bilirubin-UDP-glucuronosyltransferase gene cause not only Crigler-Najjar syndrome type II but also Gilbert syndrome. [ABSTRACT FROM AUTHOR]

Unlabelled: A 6-year-old girl is described who died following rapid neurological deterioration, ending in lethal cerebral oedema. Despite the absence of severe intestinal and metabolic derangement, Shigella was cultured from the stool. Toxic encephalopathy is responsible for death following this rare complication of childhood shigellosis in developed countries. The pathophysiology is unknown.Conclusion: Lethal toxic encephalopathy can be caused by Shigella despite the absence of severe intestinal and metabolic derangement. If shigelllosis is suspected, headache may be a first significant sign for the development of toxic encephalopathy. Early recognition and rapid measures to prevent brain oedema may improve outcome. [ABSTRACT FROM AUTHOR]

Unlabelled: Takayasu arteritis is a rare chronic vasculitis primarily involving the aorta and its main branches. We report an adolescent girl with Takayasu arteritis who presented with an isolated aortic valve regurgitation as part of a systemic inflammatory process. This patient was initially misdiagnosed as having rheumatic heart disease and the correct diagnosis was made only 1 year later.Conclusion: Takayasu arteritis should be considered among the diagnostic possibilities in patients who present with an unexplained systemic inflammatory syndrome and a cardiac murmur. [ABSTRACT FROM AUTHOR]

Unlabelled: Tachycardia is frequently observed in the acute phase of Kawasaki Disease (KD) patients. However, little is known about the association between the tachycardia in the acute phase of KD and the development of coronary arterial lesions (CAL). We examined the association between the mean 24 h heart rate in the acute phase of KD observed using 24 h ambulatory ECG monitoring (24 h-ECG) and the occurrence of CAL in patients. In a study conducted between 1994 and 1997, 26 patients with KD underwent 24 h-ECG within the febrile period and before the 9th day of illness. We compared the mean 24 h heart rate based on 24 h-ECG between patients with and those without CAL. Of 26 patients, 7 had CAL. The groups with and without CAL had similar baseline characteristics. The mean 24 h heart rate in the group with CAL was significantly higher than that in the group without CAL (144 +/- 14 vs. 124 +/- 22, P = 0.033). On multiple regression analysis, the mean 24 h heart rate was significantly correlated with the development of CAL (P = 0.019).Conclusion: Marked tachycardia detected by 24 h-ambulatory ECG monitoring in the acute phase of Kawasaki disease might provide important information on the development of coronary arterial lesions. [ABSTRACT FROM AUTHOR]

Unlabelled: 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 post-dilatation 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 recommend the use of antibiotic prophylaxis as a routine measure prior to oesophageal dilatation. [ABSTRACT FROM AUTHOR]

Unlabelled: Thrombotic complications in children with varicella are well known. Transient protein S deficiency due to the presence of an anti-protein S antibody seems to be responsible at least in part. In an 8-year-old girl, pseudotumour cerebri with abducens palsy and ileofemoral vein thrombosis occurred 3 weeks after chickenpox. A transient elevation of anti-protein S auto-antibodies was identified. Under treatment with heparin the pseudotumour cerebri rapidly disappeared but the iliofemoral thrombosis persisted.Conclusion: Thrombotic complications after varicella might be mediated at least in part by antibodies against protein S. Early recognition of this condition permits appropriate treatment with recombinant tissue-type plasminogen activator. [ABSTRACT FROM AUTHOR]

Discusses various pathomechanisms in bacterial meningitis. Significance of dextromethorphan in infants with severe bacterial meningitis; Predictors of increased rate of mortality and major neurological sequelae in patients with meningitis; Description of children with bacterial meningitis after treatment with dextromethorphan.

Unlabelled: Herpes simplex virus (HSV) is an uncommon cause of acute laryngitis in immunocompetent patients since it mostly occurs in immunocompromised subjects. We present two previously healthy children with prolonged gingivostomatitis and stridor (lasting 3 and 4 weeks) in whom HSV-1 was isolated from subglottal ulcers.Conclusion: HSV should be considered a possible pathogen in cases of prolonged or atypical croup not only in immunocompromised or elderly patients but also in otherwise healthy children. [ABSTRACT FROM AUTHOR]

Unlabelled: To determine whether plasma levels of total bile acids may provide a useful index for hypergalactosaemia due to porto-systemic shunts, these levels were determined in hypergalactosaemic neonates. Increased levels were found in all cases with portohepatic venous or portocaval shunts. The levels of both total bile acids and galactose were normalized when the shunts disappeared on the echograms. Both bile acids and galactose are almost completely absorbed by the liver via the first portal blood passage. Portosystemic shunts contribute to elevated levels of bile acids and galactose.Conclusion: Increased plasma levels of total bile acids serve as a diagnostic clue to the presence of portosystemic shunts in neonates with hypergalactosaemia. [ABSTRACT FROM AUTHOR]

We report a 10-year-old boy who presented with a piece of chicken stuck in his throat. He had similar episodes in the past that resolved spontaneously. The foreign body was removed and oesophagoscopy revealed no abnormality. Post-operative barium swallow showed oesophageal intramural pseudodiverticulosis. [ABSTRACT FROM AUTHOR]

Unlabelled: A 15-year-old girl with common variable immunodeficiency contracted hepatitis C, which progressed to liver cirrhosis and finally to hepatic failure 5 years later. Since she was agammaglobulinaemic, hepatitis C virus (HCV) infection was diagnosed on the basis of HCV-RNA detection. Quantification of her sera showed high levels of HCV-RNA (more than 10(7) copies of RNA/mL), which implied active viral replication. There were no other hepatotoxic factors except HCV infection. The initial liver biopsy at 16 years of age and the autopsy confirmed a rapid progression in liver histopathological change over 4 years.Conclusion: Contrary to the widely held view of a benign short-term prognosis in paediatric hepatitis C, progressive fatal liver disease can develop in some patients with HCV infection. Such a rapid progression of liver injury provides the rationale for antiviral therapy in at least certain high risk groups of these children. Hepatitis C may progress rapidly in an immune deficiency condition. [ABSTRACT FROM AUTHOR]

Unlabelled: From December 1990 to November 1993 nasopharyngeal specimens were obtained for culture from 50 children (mean 4.9 +/- 3.3 months of age) who had died suddenly. Bordetella pertussis was not isolated. Subsequently, nasopharyngeal specimens for polymerase chain reaction (PCR) analysis were obtained from another 51 victims of sudden death (mean 5.4 +/- 4.4 months of age); nine (18%) were B. pertussis positive.Conclusion: Our findings support previous epidemiological studies which noted an association between epidemic pertussis and sudden infant death syndrome. Further PCR studies with both internal and external controls should be performed. [ABSTRACT FROM AUTHOR]

Acute suppurative thyroiditis is a rare disease, particularly in childhood. We present a case with recurrent acute suppurative thyroiditis due to a pyriform sinus fistula originating from the fourth branchial pouch. The typical symptoms of a pyriform sinus fistula are recurrent left-sided pain and swelling of the neck with signs of acute bacterial inflammation. Diagnosis should be made by high resolution ultrasound, barium meal studies and endoscopic examination. During acute exacerbations treatment with antibiotics is indicated, but permanent cure can only be attained by complete fistulectomy. [ABSTRACT FROM AUTHOR]

Unlabelled: Meningococcal disease (MCD) can present as meningitis, meningitis plus septicaemia or septicaemia alone. This 17-year retrospective study sought to determine if the proportion of cases presenting as septicaemia alone was increasing. Four hundred and forty-nine children with MCD were admitted between 1977 and 1993, 50 children died (11%). The proportion of cases with septicaemia alone increased from 7% in 1977-1985 to 36% in 1990-1993 (P < 0.0005). Mortality was highest in children with septicaemia alone (19%). Despite the increase in septicaemia, overall mortality did not alter over the 17 years.Conclusion: MCD should not be thought of as "meningitis", since 33% of cases now present as septicaemia alone. Nearly one in five children with septicaemia alone die. Information and publicity about MCD should focus on septicaemia, characterised by a petechial rash, as the life-threatening presentation. [ABSTRACT FROM AUTHOR]

Unlabelled: Clear fluids high in fructose (e.g., apple juice) have been incriminated for symptoms of chronic non-specific diarrhoea (CNSD), in particular in children 1-4 years of age. H2 breath tests were performed, after ingestion of fructose (1 g/kg), in 15 patients referred with CNSD and 35 controls. All 15 CNSD children (100%) had breath peak H2 of > or = 20 ppm versus 49% of the 35 controls (P = 0.0005). Median peak H2 in CNSD (90 ppm, range 31-136) was significantly higher than in controls (20 ppm, range 1-139) (P < 0.001). Orocoecal transit time in children with positive tests was similar in both groups. Similarly, median H2 increases during the test period had the same distribution. We demonstrated fructose malabsorption in CNSD, but found a great overlap with the control group. Our results strongly discourage the use of fructose breath H2 tests in children suspected of CNSD. A positive test has no diagnostic value and a negative test has no clinical implications.Conclusion: For clinical practice, we suggest a dietary history and a trial of appropriate measures in infants with chronic nonspecific diarrhoea, instead of performing the fructose H2 breath test. [ABSTRACT FROM AUTHOR]

Unlabelled: In a prospective study of 69 children with febrile convulsions, serum sodium levels were often lower than normal (52% had levels < 135 mmol/l). The mean level (134.4 +/- 0.4 mmol/l) was significantly lower as compared to a group of children without fever (140.6 +/- 0.4 mmol/l, n = 23) and as compared to a group with fever but without convulsions (137.6 +/- 0.6 mmol/l, n = 31). The probability of a repeat convulsion within the same febrile period appeared to be significantly related to the serum sodium level.Conclusion: Measurement of the serum sodium is a valuable investigation in the child with a febrile convulsion. The lower the serum sodium level, the higher the probability of a repeat convulsion. This knowledge may be of practical value in deciding whether to admit the child or allow it to return home and in advising parents or carers of the risk of a repeat convulsion. [ABSTRACT FROM AUTHOR]

Parathyroid hormone-related protein (PTHrP) is the factor responsible for the syndrome of humoral hypercalcemia of malignancy (HHM). The syndrome is well documented in adult cancer patients, but has not previously been described in young children. We report the case of a 3-month-old infant who developed refractory hypercalcemia (peak total calcium 13.8 mg/dl; normal 8.5-10.5, ionized calcium 3.3 meq/l; normal 2.0-2.5) associated with a high-grade, poorly differentiated malignant hepatic sarcoma. Parathyroid hormone (intact) levels were suppressed (7.5 pg/ml; normal 10-65). Fractional excretion of phosphate was markedly elevated (73.5%; normal 8%-20%) as were urinary cAMP levels (12.48 nmol/dl glomerular filtrate; normal 1.83-4.47) suggesting a PTH-like effect. Increased levels of PTHrP were present both in the serum (4.9 pmol/l; normal for adults < 1.5) and ascitic fluid (6.1 pmol/l). Since previous studies have demonstrated a potential role for PTHrP in the regulation of embryonal tissue differentiation and transmembrane calcium flux, our observation of elevated PTHrP levels associated with the development of a poorly differentiated hepatic sarcoma in a young infant may provide insight into the molecular mechanisms underlying HHM. We suggest that serum or plasma PTHrP levels be determined in all children with hypercalcemia of malignancy in whom the hypercalcemia cannot otherwise be explained. [ABSTRACT FROM AUTHOR]

Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients. [ABSTRACT FROM AUTHOR]

We report a 4-year-old girl diagnosed as having Guillain-Barré syndrome after infection by Penner serotype 19 of Campylobacter jejuni. The patient had the HLA-B35 antigen. Neurological examination revealed distal-dominant weakness and intact sensation. Serial electrophysiological studies indicated that the predominant process was axonal degeneration involving motor nerves. An enzyme-linked immunosorbent assay revealed the presence of high titres of serum IgM antibodies to gangliosides GM1 and GM2. The IgM auto-antibody titres decreased concurrently with the clinical course of the illness and no switching from IgM to IgG secretion took place. [ABSTRACT FROM AUTHOR]

A case-controlled study of the cerebral ultrasound appearances of neonates following placental abruption was undertaken. Twenty-nine index subjects (median gestation 29 weeks) were identified over a 2-year period with gestation- and sex-matched controls. Placental abruption was associated with a four-fold increased incidence of periventricular leukomalacia and extensive periventricular haemorrhage, without increased mortality. Ten infants (34%) developed cystic periventricular leukomalacia following placental abruption, compared with three (10%) in the control group. Intraventricular haemorrhage (excluding subependymal haemorrhage) and haemorrhage into the brain parenchyma occurred in 21 (72%) infants in the abruption group, compared with 14 (48%) in the control group (P < 0.05). [ABSTRACT FROM AUTHOR]

Records of 70 infants admitted to Hamad General Hospital with RSV bronchiolitis and a similar number of controls were retrospectively reviewed. Two years after admission, 44% of the infants with RSV bronchiolitis developed recurrent wheezing compared with only 12.9% of controls (P = 0.001). A family history of atopy appeared not to be a significant predisposing factor for the occurrence of recurrent wheezing in post RSV bronchiolitis patients. These results are similar to those from similar studies in industrialized countries. [ABSTRACT FROM AUTHOR]

A 28-month-old Turkish girl presented with recurrent bronchopneumonia and severe muscular hypotonia. Urinary excretion of ethylmalonic acid was persistently elevated, methylsuccinate appearing only in stress situations. Studies in cultured fibroblasts showed a deficiency of short-chain acyl-CoA dehydrogenase. [ABSTRACT FROM AUTHOR]

A 4.5-year-old child suffered from rapidly evolving motor weakness with paresthesia and radicular pain in both legs, accompanied by an isolated elevation of protein levels in CSF. Isoelectric focusing revealed oligoclonal IgG produced in the cerebrospinal compartment only. The diagnosis of Guillain-Barré syndrome was confirmed by electrophysiological studies. High antibody titres against Borrelia burgdorferi in the serum and specific antibodies in the CSF were demonstrable by ELISA and immunoblotting. B. burgdorferi specific DNA fragments were demonstrated in urine and CSF by means of a nested polymerase chain reaction (PCR), thus providing the borrelial aetiology and indicating B. burgdorferi infection. Complete recovery was observed after treatment with high dose immunoglobulin and ceftriaxone and control urine specimens were PCR negative. [ABSTRACT FROM AUTHOR]

Kawasaki disease (KD) often presents with abnormal urinary findings, such as aseptic pyuria, mild proteinuria and microscopic haematuria. In this study, we measured urinary interleukin-6 (IL-6) by a sensitive sandwich ELISA assay using mouse monoclonal antibodies against recombinant IL-6 to elucidate the role of IL-6 in the pathogenesis of renal lesions in KD. Serum IL-6 levels were increased in acute KD as well as in febrile controls. Importantly, urinary IL-6 levels were consistently elevated in patients with acute KD, but much lower in febrile controls. Urinary IL-6 levels returned steadily to normal during the convalescent phase. In addition to IL-6, urinary levels of N-acetyl-beta-D-glucosaminidase (NAG) and beta 2-microglobulin (beta 2-mg) were also elevated during the acute phase of this disease. Eosinophils and macrophages were identifiable in urinary sediments from these patients. The increased levels of urinary IL-6 in combination with increased NAG and beta 2-mg seemed to suggest the presence of certain renal parenchymal lesions with cellular infiltration during the acute phase of the disease. IL-6 may serve as clinically useful parameter for the detection and monitoring of the renal involvement in KD. [ABSTRACT FROM AUTHOR]

We report a 10-month-old male infant who was admitted to our hospital with a history of failure to thrive and bulky stools. On examination, he was dystrophic and had a protruding abdomen, but he was well oxygenated and his lungs were clear on auscultation. A tachycardia of 145 beats per min and radiological evidence of cardiomegaly indicated involvement of the heart, but an ECG failed to show signs of myocarditis or cardiac hypertrophy. An elevated sweat chloride concentration of 141 mEq/l confirmed the diagnosis of cystic fibrosis (CF). Molecular analysis revealed heterozygosity for the common mutation delta F508. He died unexpectedly of a sudden cardiac arrest 2 days later. Autopsy revealed scattered myocardial necrosis and fibrosis. Some 50 documented cases of myocardial fibrosis in infants with CF have been reported. Suggested causes such as malnourishment and hypovitaminosis remain speculative as systematic studies have yet to be done. [ABSTRACT FROM AUTHOR]

The aim of this study was to assess the relationship between bladder dysfunction and impaired cardiovascular reflexes in diabetic children with no clinical symptoms of autonomic neuropathy. After 15 ml/kg of water intake, the time to first sensation to void, the voiding volume, the voiding time, the average and maximum urinary flows, and the time to maximum urinary flow were estimated by sonography and uroflowmetry in diabetic children with and without cardiovascular autonomic dysfunction (CAD), and in a healthy control group. The three groups of children were matched for age, weight and height. CAD was considered to be present if the results of cardiovascular tests were more than 2SD from the mean of healthy controls. Diabetic children with and without CAD had increased time to first sensation to void, voiding volume, and average urinary flow when compared with healthy children. Voiding volume and average and maximum urinary flows were higher in diabetic children with CAD than in those without CAD. Diabetic children with CAD had also a higher maximum urinary flow than diabetic children without CAD and healthy children. Diabetic children with CAD had a longer diabetes duration and a higher mean fructosamine level during the preceding 3 years than those without CAD. These findings suggest that diabetic children may have diminished sensation of bladder filling independent of impaired cardiovascular reflexes, however, the degree of bladder dysfunction parallels with CAD, both depending on diabetes duration and long-term glycaemic control. [ABSTRACT FROM AUTHOR]

Patients with glycogen storage disease type Ib (GSD Ib) suffer from recurrent bacterial infections due to neutropenia and neutrophil dysfunction. To improve the quality of life in a 9-year-old boy with GSD Ib, we subcutaneously administered recombinant human granulocyte colony-stimulating factor (G-CSF). Daily injections of 100 micrograms/m2 of G-CSF significantly increased absolute neutrophil counts and augmented neutrophil mobility. The patient was then treated with 70 and 100 micrograms/m2 of G-CSF daily and twice-weekly. The treatment maintained absolute neutrophil counts at significantly higher levels than those without treatment for 22 months and markedly decreased the frequency of infections and the necessity for hospitalisation. Weekly injections of 70 micrograms/m2 of G-CSF were less efficient. No adverse effects were observed during treatment. These findings indicate that daily and twice-weekly treatment with G-CSF of long duration are safe and effective for patients with GSD Ib. G-CSF may be a useful therapeutic agent in patients with neutrophilic impairment as a consequence of a metabolic disorder. [ABSTRACT FROM AUTHOR]

We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400). Our case was diagnosed within the first 2 months of life by amino acid analysis (ion-exchange chromatography) and by biochemical studies in cultured fibroblasts ([14C]propionate incorporation, methionine and serine formation). We discuss the clinical course and the biochemical evolution after 2 years of hydroxycobalamin treatment that led to an improvement in general clinical condition and neurological performance. [ABSTRACT FROM AUTHOR]

Congenital cutaneous candidiasis (CCC) is a rare disease acquired by an ascending route, liable to affect the offspring of pregnant women suffering from vulvovaginitis. The cutaneous lesions are present at birth or within the first hours of life. Some infants may present with respiratory distress or clinical signs of sepsis during the first 2 days of life. We report four new cases of CCC, three of which presented transient respiratory distress and clinical signs of sepsis with hepatosplenomegaly. The evolution was favourable in all three cases with topical and oral therapy. We emphasize the self-limited character of this disease, although preterm infants may be at risk of systemic spread. Only one infant presented paronychia as a late complication. [ABSTRACT FROM AUTHOR]