[An infant with a swelling on the head]. / Een zuigeling met een zwelling op het hoofd.

A 1-month-old infant presented with a swelling on the head present from birth. Physical examination showed a healthy infant with a solid swelling on the back of the head with a diameter of approximately 6 cm. Radiography showed a calcified cephalohaematoma.

Overlap, common features, and essential differences in pediatric granulomatous inflammatory bowel disease.

Overlap in the clinical presentation of pediatric granulomatous inflammatory bowel disease may be substantial, depending on the mode of presentation. Chronic granulomatous disease (CGD) may present with granulomatous colitis, perianal abscesses, hepatic abscesses or granulomas, failure to thrive, and obstruction of the gastrointestinal tract (including esophageal strictures and dysmotility, delayed gastric emptying, and small bowel obstruction). Anemia, thrombocytosis, elevated C-reactive protein and erythrocyte sedimentation rate, and hypoalbuminemia are nonspecific and may occur in any of the granulomatous inflammatory bowel diseases. In histology, macrophages with cytoplasmic inclusions will be rather specific for CGD. Sarcoidosis may present with abdominal pain or discomfort, diarrhea, weight loss, growth failure, delayed puberty, erythema nodosum, arthritis, uveitis, and hepatic granulomata. Only in 55% of the patients will angiotensin-converting enzyme be elevated. The noncaseating epithelioid granulomata will be unspecific. Bronchoalveolar lymphocytosis and abnormalities in pulmonary function are reported in sarcoidosis and in Crohn disease (CD) and CGD. Importantly, patients with CD may present with granulomatous lung disease, fibrosing alveolitis, and drug-induced pneumonitis. Sarcoidosis and concomitant gastrointestinal CD have been reported in patients, as well as coexistence of CD and sarcoidosis in siblings. Common susceptibility loci have been identified in CD and sarcoidosis. CD and CGD share defects in the defense mechanisms against different microbes. In the present review, common features and essential differences are discussed in clinical presentation and diagnostics--including histology--in CGD, sarcoidosis, and CD, together with 2 other granulomatous inflammatory bowel diseases, namely abdominal tuberculosis and Hermansky-Pudlak syndrome. Instructions for specific diagnosis and respective treatments are provided.

[Clinical reasoning and decision making in clinical practice: a boy with fatigue and abdominal pain]. / Klinisch denken en beslissen in de praktijk: een jongen met vermoeidheidsklachten en buikpijn.

A 14-year-old boy presented with fatigue and abdominal pain. Laboratory tests revealed a primary hypothyroidism with circulating auto-antibodies against thyroid peroxidase (TPO), anaemia and an elevated level of creatine kinase (CK). A diagnosis of auto-immune hypothyroidism with associated anaemia and myopathy was made. Thyroid hormone replacement therapy was started. However, six months later, he still complained of fatigue. He had unexpectedly varying thyroid function tests and the anaemia and the elevated level of CK persisted. Analysis of the other hormonal axes demonstrated a secondary adrenal insufficiency which was treated with hydrocortisone suppletion therapy. If a patient suffering from hypothyroidism does not respond appropriately to therapy or even deteriorates, adrenal insufficiency should always be considered. Patients with one type of auto-immune endocrinopathy have a greater risk at developing other types of auto-immune endocrinopathies.

Thrombopoietin increases platelet adhesion under flow and decreases rolling.

Thrombopoietin (TPO) is known to sensitize platelets to other agonists at 20 ng/ml, and above 100 ng/ml it is an independent activator of aggregation and secretion. In studies with a perfusion chamber, TPO, between 0.01 ng/ml and 1 ng/ml, increased platelet adhesion to surface-coated fibrinogen, fibronectin and von Willebrand Factor (VWF) but not to a collagen-coated surface. Increased adhesion was observed at shear rates of 300/s and 800/s in perfusions with whole blood as well as in suspensions of platelets and red blood cells reconstituted in plasma. The by the cyclooxygenase inhibitor, indomethacin, and the thromboxane A2-receptor blocker, SQ30741, abolished the stimulation by TPO. The effect of TPO was mimicked by a very low concentration (10 nmol/l) of the thromboxane TxA2 analogue, U46619. Real-time studies of platelet adhesion to a VWF-coated surface at a shear of 1000/s showed that about 20% of the platelets were in a rolling phase before they became firmly attached. TPO (1 ng/ml) pretreatment reduced this number to < 5%, an effect again abolished by indomethacin. Thus, TPO potentiates the direct and firm attachment of platelets to surface-coated ligands for alphaIIbbeta3, possibly by increasing the ligand affinity of the integrin.