[Acute abdominal pain in children caused by pneumonia]. / Acute buikpijn door longontsteking bij kinderen.

Three children presented with symptoms of an acute abdomen. In all three a diagnosis of pneumonia was subsequently established, and the patients made a full recovery following antibiotic therapy. When a paediatric patient presents with symptoms of an acute abdomen, the possibility of pneumonia should be considered. It can be difficult to differentiate between appendicitis and pneumonia because of the subtle clinical signs. Early recognition is, however, important in order to start the correct therapy and to avoid an unnecessary laparotomy.

Successful treatment of severe subcutaneous insulin resistance with inhaled insulin therapy.

The potential of inhaled insulin therapy for severe resistance to subcutaneous insulin was tested in a 7-yr old boy with type 1 diabetes mellitus. The efficiency of 1 mg inhaled insulin (Exubera) was examined by a 4-h euglycemic clamp study. During the clamp, the glucose infusion rate started to increase 25 min after inhalation and peaked 120 min after inhalation. Subsequently, a trial of inhaled insulin monotherapy was initiated consisting of pre-meal inhalations and one inhalation during the night. Since glycemic control remained fair (HbA1c approximately 8.5%), this therapy was continued. Over the ensuing 18 months, mild keto-acidosis occurred twice during gastro-enteritis. Inhaled insulin was well tolerated and pulmonary function did not deteriorate. We conclude that severe resistance to subcutaneous insulin does not preclude sufficient absorption of insulin delivered by pulmonary.

[Treatment of neonatal hypoglycaemia: more frequent latching onto the breast versus supplementary feeding with formula; retrospective study of patient files]. / Behandeling van neonatale hypoglykemie: frequenter aanleggen aan de borst versus bijvoeden met flesvoeding; retrospectiefstatusonderzoek.

OBJECTIVE: To evaluate the effects of frequent latching versus supplementary feeding of breastfed infants with hypoglycaemia on blood glucose concentrations and breastfeeding. DESIGN: Retrospective study of patient files. METHOD: All breastfed infants born in the period of investigation (June 1st 2004-April 30th 2005) by artificial or breech delivery were included. In the group with supplementary feeding (June 1st 2004 until December 12th 2004) mild neonatal hypoglycaemia, defined as glucose concentrations between 1.8 and 2.5 mmol/l, with symptoms, or between 1.3 and 1.7 mmol/l, without symptoms, was treated with supplementary feeding with formula. In the group with more frequent latching (December 13th 2004-April 30th 2005) mild neonatal hypoglycaemia (defined as glucose levels of 1.8-2.1 mmol/l) was treated with more frequent latching without supplementary feeding. The change in feeding policy (mid December 2004) was introduced because of excessive numbers of supplementary feedings, which jeopardized breastfeeding. Blood glucose determinations were carried out with the HemoCue B-glucose system. Risk factors for hypoglycaemia were listed, enabling the assessment of data of neonates who did not run an increased risk of hypoglycaemia, a kind of 'control group'. RESULTS: 232 newborn infants were included: 158 in the supplementary feeding group and 74 in the group with more frequent latching. In the supplementary feeding group, 63% (100/158) of the children developed hypoglycaemia, versus 55% (41/77) in the group with more frequent latching. The latter had lower blood glucose concentrations than the supplementary feeding group. This difference was only significant for infants without risk factors: the mean difference in lowest glucose concentration between supplementary feeding and more frequent latching in the group without risk factors was 0.50 mmol/L (SD: 0.69; 95% CI: 0.06-0.93; p = 0.03) versus 0.20 mmol/l (SD: 0.79; 95% CI: -0.05-0.45; p = 0.14) in the group with risk factors. Supplementary feedings decreased by 39% (95% CI: 28-50). The number of infants discharged with breastfeeding only increased by 14% (95% CI: 2-26). Symptomatic hypoglycaemic episodes were not found in the group with supplementary feeding or in the group with more frequent latching. CONCLUSION: Frequent latching instead of supplementary (formula) feeding in infants with mild neonatal hypoglycaemia was associated with lower blood glucose concentrations but with higher percentages of breastfeeding only at discharge.

[Cushing's syndrome in children]. / Het syndroom van Cushing bij kinderen.

In two girls, aged 13 and 16 years, Cushing's syndrome was diagnosed. In addition, the first showed a decrease in linear growth and weight gain; a pituitary adenoma was found, which was surgically excised. The second girl was examined because of a male body-hair pattern and weight increase. She had an adrenal adenoma, visible on MRI, which was excised during laparoscopy. Cushing's syndrome is a rare disease in childhood. A decrease in linear growth and a gain in weight are early recognisable features. Arriving at an aetiological diagnosis may be difficult and is based on the performance and interpretation of endocrinologic function and laboratory tests such as determination of the cortisol level in blood, saliva and urine, a dexamethasone-suppression test, and a corticotropin assay in blood drawn from the cerebral cavernous sinuses.

[A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease]. / Een meisje met het syndroom van Cushing door primaire gepigmenteerde nodulaire adrenocorticale ziekte.

A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of primary pigmented nodular adrenocortical disease (PPNAD). The treatment for patients with PPNAD is bilateral adrenalectomy and hormone substitution. PPNAD may be part of the Carney complex, an autosomal dominant multiple neoplasia syndrome. Screening of family members is mandatory. Further investigation for mutations in the gene encoding the regulatory subunit 1A of the protein kinase A (PRKAR1A) may be helpful.

[From gene to disease; hypogonatrophic hypogonadism and anosmia: Kallmann's syndrome]. / Van gen naar ziekte; hypogonadotroop hypogonadisme en anosmie: het Kallmann-syndroom.

Kallmann's syndrome is a genetic condition characterised by hypogonadotrophic hypogonadism and anosmia; additional neurological and non-neurological symptoms may also occur depending on the specific mode of inheritance. Mode of inheritance can be X-linked (KAL-1), autosomal dominant (KAL-2) or autosomal recessive (KAL-3), although unrelated sporadic cases occur more frequently. The gene responsible for the X-linked form, namely KAL-1, and its encoded protein anosmin-1 have been identified for some time. Very recently the gene responsible for the autosomal dominant form was also identified. KAL-2 is caused by loss-of-function mutations in the gene encoding fibroblast growth-factor receptor-1 (FGFR1).

[Persistent hyperinsulinemic hypoglycemia in infancy: differentiated approach to a heterogeneous syndrome]. / Persisterende hyperinsulinemische hypoglykemie bij kinderen: gedifferentieerde aanpak bij een heterogeen syndroom.

Persistent hyperinsulinemic hypoglycaemia in infancy (PHHI) presents a diagnostic and therapeutic challenge for the treating physician: increased glucose requirements, detectable insulin levels at the point of hypoglycaemia, inappropriately low blood levels of free fatty acids and ketone bodies are characteristic of this condition. Despite recent developments in understanding its pathophysiology, treatment remains difficult and there are many long-term complications. Adequate treatment strategies are needed to prevent severe neurological damage. As there is a high possibility that hyperinsulinism may only be transient, aggressive pharmacological treatment is necessary for 4 to 6 weeks before moving on to surgical intervention. In the light of recent knowledge, routine subtotal pancreatectomy in children is no longer justifiable. An attempt should first be made to differentiate between focal and diffuse hypersecretion of insulin by using interventional radiology techniques, notably pancreatic venous sampling. This then enables targeted partial pancreatectomy.

The difficulty of height prediction in Weaver syndrome.

Accelerated growth and advanced bone age are consistent findings in Weaver-Smith syndrome (WSS). According to the rather scant reports in the literature, persons afflicted with WSS appear to achieve supranormal heights despite a significant bone age advancement in their growth period. The literature does not state clearly whether there is a discrepancy between bone age advancement and the time of onset of puberty in WSS. We report a girl with Weaver syndrome whose final height predictions were within normal limits according to the standard prediction models, who had to be eventually treated with high doses of estrogen in order to keep her final height within reasonable limits. We conclude that the pattern of growth and maturation in children with WSS may form an exception to the general rule that tall children with an advanced bone age mature early and thus attain a normal final height. A careful evaluation of growth data of other children with WSS is necessary to clarify this issue.

Management of puberty in constitutional delay of growth and puberty.

Constitutional delay of growth and puberty (CDGP) is the most common presenting form of short stature, but no single test can infallibly discriminate CDGP and isolated hypogonadotrophic hypogonadism. Management of puberty in CDGP aims to optimise not only growth maintaining body proportions and improving peak bone mass without impairing growth potential--but also well-being; for example, the distress boys often suffer because of their lack of growth and pubertal progression can affect their school performance and social relationships. Typical sex steroid treatments to induce puberty in boys with CDGP include testosterone (T) enanthate, T undecanoate, mixed T esters, T transdermal patches, and oxandrolone p.o. Compared with other regimens, short-course low-dose depot T i.m. is an effective, practical, safe, well tolerated, and inexpensive regimen. Some unresolved problems in management include optimal timing and dose of sex steroid treatment, the role of GH in CDGP, and the management of CDGP in girls.

Optimal therapy of pubertal disorders in precocious/early puberty.

GnRHa have been used in the treatment of central precocious puberty (CPP) for a decade and some final results of this therapy are now available. Treatment preserves height potential in younger patients and a complete recovery of the hypothalamic-pituitary-gonadal axis occurs at the end of treatment. However, some aspects of the management of CPP are still debated. Probably the age limits between normal and precocious puberty have to be lowered, and new diagnostic tools will modify and simplify diagnostic criteria. The possibility of progression of premature thelarche into precocious puberty, the pathogenesis of organic and idiopathic precocious puberty, the criteria for decision to treat and to stop treatment and the utility of an association with GH treatment will be better understood in the future. Follow-up of patients after stopping therapy includes frequency and characteristics of menses, the possible higher incidence of polycystic ovary-like syndrome and the correct achievement of a normal peak bone mass and body composition. In this review we discuss some of these points, with particular attention to precocious puberty in girls.

Enhancement of hepatic artery resistance to blood flow in preeclampsia in presence or absence of HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets)

OBJECTIVE: Our purpose was to test the hypothesis that the HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome is the result of excessive vasoconstriction of the hepatic arterial circulation. STUDY DESIGN: Doppler ultrasonography was used to measure the pulsatility index of the common hepatic artery in 14 women with preeclampsia, 15 with preeclampsia complicated by HELLP syndrome, and 8 with HELLP syndrome but without proteinuria. Gestational age ranged from 24 to 38 weeks. The study group was compared with a reference group (n = 42). RESULTS: Both in preeclampsia and in the HELLP syndrome the hepatic artery pulsatility index values were significantly increased compared with the reference group. However, no significant differences were found between the preeclamptic group, the HELLP group with proteinuria, and those with HELLP without proteinuria. CONCLUSIONS: These findings indicate that hepatic artery resistance to blood flow is increased in preeclampsia in the presence or absence of the HELLP syndrome. The results also demonstrate that vasoconstriction of the hepatic arteries is not more pronounced in the HELLP syndrome than in other manifestations of preeclampsia. Therefore factors other than vasoconstriction are likely to be responsible for the development of the HELLP syndrome.