Helvetica paediatrica acta最新文献

A six-year-old girl presented with fever, trismus and a very tender, enlarged submandibular mass. CT-scanning showed a right parapharyngeal mass and enlarged cervical nodes in the posterior triangle. Surgical exploration of the area failed to reveal an abscess. Subsequently the clinical criteria for the diagnosis of Kawasaki syndrome were met. This unusual presentation is compared with previously reported cases in the literature.

We have measured the urinary excretion of trimethylamine in two sisters with trimethylaminuria (the fish-odour syndrome). On a restricted diet the patients still excreted increased quantities of trimethylamine, and this did not alter following a fourteen-day course of lactulose. Dietary provocation produced a rise in urinary trimethylamine which was abolished by fourteen days' pretreatment with lactulose. The case histories illustrate the tendency for delay in reaching this diagnosis and the psychological damage caused by the condition.

The growth characteristics of Russell-Silver syndrome (RSS) include dwarfism of prenatal onset, moderate retardation of bone age and normal postnatal height velocity. We describe a case of hypopituitarism in a girl with typical RSS who suffered from a severe trauma at birth. Signs of hypopituitarism appeared during childhood. Before substitutive treatment, a short course of human growth hormone (hGH) induced a moderate rise in plasma IGF-I levels which was within the range observed in other pituitary dwarfs. Under replacement therapy, catch-up growth was similar to what is observed in other growth hormone deficient children. However, bone age matured much faster than chronological age. This observation appears to be a particular feature of RSS, possibly enhanced by hGH therapy. An improvement of adult height beyond the final height usually observed in RSS children without endocrine disturbances should therefore not be expected from hGH therapy. Growth hormone deficiency and RSS do not appear to be causally related. However, in each child with RSS, a particular attention should be given to a decreased height velocity, a severely delayed bone age as well as a history of major perinatal problems. Should one of these factors be found, a careful evaluation of the hypothalamo-pituitary axis ought to be performed with, accordingly, an appropriate substitutive therapy.

The authors describe a patient who presented from birth on a severe involvement of connective tissues with pathological fractures, lack of auricular cartilage, hyperlaxity of fingers and cutis laxa with deep folds, all suggestive of derangements of collagen and elastin. Hypothermia at 24 hours of age should have already indicated the possibility of Menkes' syndrome. From the 3rd month on, the patient presents a neurological deterioration and a myoclonic epilepsy which is resistant to treatment. Craniocerebral tomodensitometry revealed, with time, a cerebral atrophy and subdural hematomas. Angiodysplasia of a coronary artery was seen at cardiac echocardiography. Undetectable levels of serum copper and ceruloplasmin, and an increased uptake of copper by fibroblasts in vitro confirmed the diagnosis of Menkes' syndrome. Electron microscopy of a skin biopsy disclosed a desmosomal anomaly in the epidermis. Desmosomes stay apart suggesting an alteration of the interdesmosomal cement.

42 out of 45 adults aged 18-26 years (93%) diagnosed in childhood as having coeliac disease (CD) returned a questionnaire reviewing how they coped with the diet. 27 (64%) still continued to take a strict gluten elimination diet, five had failed completely and ten partly keep it up. Those adhering to the diet more often demonstrated a good knowledge of both CD and the diet. Neither age at the time of diagnosis nor social class, education of the patients or present social status was observed to have any positive correlation with compliance with the diet. The results indicate a need for more practical education of patients in terms of short refreshment courses.

A child with the Bardet-Biedl syndrome associated with Hirschsprung's disease and multiple anterior pituitary hormone deficiencies is described. The importance of endocrine assessment of such patients who show disturbance of growth or puberty is emphasized.

We report about polysomnographic studies including EEG, EOG, EMG, ECG, measurement of oropharyngeal airflow, recording of chest wall movements and transcutaneous measurements of pO2 and pCO2 in a 4-year-old girl with severe obstructive sleep apnea. Her sleep profile was characterized by a disturbed cyclic pattern of sleep stages with onset of sleep at stage 4, shortening of REM-sleep periods and of sleep stages 1 and 2, and an increased quantity of sleep stage 4. The total time spent in apneic episodes was 11.3% of the total sleep period (only obstructive events). Apneic attacks were recorded mainly in REM and light NREM sleep states. Tonsillectomy and adenoidectomy resulted in marked improvement without further evidence of abnormal sleeping pattern or of sleep apneas.

During a four-year period, 154 surviving preterm infants of 32 weeks gestation or less were prospectively examined by cerebral ultrasound for periventricular-intraparenchymal cystic lesions (IPCL) subsequent to ischemic and/or haemorrhagic damage. Neurological and developmental outcome was assessed with examinations at 0, 3, 6, 12, 18, 24, 36, 48 months of age corrected for prematurity. Twenty-four (15.5%) patients were found to have IPCL changes at ultrasound. In 8 cases, a porencephalic cyst subsequent to grade IV IVH (Papile's classification) was found; all had cerebral palsy and severe developmental deficit was present in 4. Diffuse bilateral PVL was found in 8 cases: 1 was not evaluable, 7 developed cerebral palsy; the developmental delay was severe in 4, moderate in 2 patients, and only 1 was normal. Four patients had localized bilateral PVL: 3 patients had mild diplegia and 1 was normal; the developmental outcome was normal only in 1 case, 1 had a severe cognitive delay, and 2 were moderate. In the remaining 4 cases, the ultrasound showed a monolateral localized PVL: 1 patient had mild diplegia and moderate cognitive delay, 3 were normal. - This study confirms the important role of the ultrasonographic diagnosis of IPCL in preterm infants to foresee later neurodevelopmental outcome. Extensive parenchymal lesions were strongly associated with major neurodevelopmental handicaps, while localized and small lesions were correlated with more favorable neurological as well as developmental prognosis.

A partial trisomy of the long arm of chromosome number 3 (3q23----3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.

We retrospectively evaluated the growth of 41 children with constitutional growth delay followed till adulthood and never treated with growth-promoting therapies. Final height has been correlated with prepubertal height, genetic target and height prediction calculated in both prepuberty and puberty. All patients showed a significant improvement of their height standard deviation score (HSDS) from prepuberty to adulthood, and the great majority of them achieved a final height above the 3rd percentile. Moreover, we found a good correlation between final height and both genetic target and height prediction, even if the latter overestimated final height in 25% of the patients. In conclusion, our data confirm that constitutional growth delay is a normal variant of growth. Therefore, caution should be paid in considering pharmacological treatment of this condition.