Congenital erythropoietic porphyria associated with nephrotic syndrome and renal siderosis.

A 9-year-old boy with typical features of congenital erythropoietic porphyria who had received more than 50 blood transfusions developed the steroid-resistant nephrotic syndrome in the presence of normal glomerular function and glucosuria. Renal biopsy showed focal segmental glomerulosclerosis and widespread iron deposits. Magnetic resonance scanning revealed advanced siderosis of liver and kidneys. During a 4 year treatment by desferrioxamine the serum ferritin level was reduced, proteinuria dropped and serum proteins increased whilst glomerular filtration decreased slowly. It is suggested that the nephrotic syndrome may be a consequence of renal siderosis amenable to iron-chelating therapy.

Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family.

A hitherto undescribed dual deficiency of uroporphyrinogen III synthase and uroporphyrinogen decarboxylase was observed in the erythrocytes in a 14 year-old patient who had presented with congenital erythropoietic porphyria since early childhood. Whereas congenital erythropoietic porphyria was metabolically and clinically overt, a hereditary deficiency of uroporphyrinogen decarboxylase was confirmed by family study. The uroporphyrinogen III synthase activity of the propositus was decreased to 26% of the control while his asymptomatic family members had activities between 53-65% of the control. Additionally, the uroporphyrinogen decarboxylase activity was 55-66% of the control in the patient and his family. Family investigations have shown that the two disorders do not consistently segregate together. Although urinary porphyrin excretions of relatives were in the physiological range, the proportion of coproporphyrin isomer I showed a relative increase, which can serve as a biochemical indicator for heterozygous uroporphyrinogen III synthase gene carriers.

[Phlegmona ("cellulitis") and Haemophilus influenzae meningitis]. / Phlegmone ("Cellulitis") und Meningitis durch Haemophilus influenzae.

Soft tissue inflammation is a rare manifestation of H. influenzae infection. It is known in the anglo-american literature as "cellulitis". Usually there is concomitant bacteremia or septicemia. The combination of cellulitis and meningitis is rare and not well known in German pediatric literature. Three children with facial cellulitis together with H. influenzae meningitis are described. In comparison to the literature some unusual observations were made: Early appearance of cellulitis at the age of six weeks in two infants, cellulitis of the lower extremities at the same time in one, and biphasic course with cellulitis and meningitis secondary to mastoiditis in another infant.

Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome.

This report describes a boy with an atypical severe from of Cockayne syndrome type II manifesting in infancy. He developed nephrotic syndrome at the age of 4.7 years and a hypertensive crisis with hemiparesis at 5.4 years. Renal biopsy revealed focal segmental glomerulosclerosis, which was confirmed at autopsy. Adrenocortical failure was also present. The course was characterized by frequent infections and an episode of myocarditis. The boy died at the age of 6.0 years after rapid neurological deterioration accompanied by renal insufficiency. Autopsy disclosed cerebral leukodystrophy compatible with Cockayne syndrome.

[High frequency oscillation in meconium aspiration and bronchopulmonary dysplasia]. / Hochfrequenzoszillation (HFO) bei Mekoniumaspiration und bei Bronchopulmonaler Dysplasie.

Within one year 3 newborns with meconium-aspiration and 4 infants with bronchopulmonary dysplasia (BPD) were treated with HFP, synchronous with conventional ventilation (CMV). The entrance criteria were insufficient oxygenation (PO2/FiO2 < 50 mmHg) and/or CO2-elimination (> 60 mmHg), respectively peak inspiratory pressure Pi > 40 mmHg and mean airway pressure MAP > 20 mbar during CMV. All three cases of meconium-aspiration have shown a striking improvement in oxygenation and ventilation, in one case starting from a disastrous situation with PCO2 > 90 mmHg, PO2 30 mmHg (FiO2 100%). After a HFO period of 9 to 10 hours Pi, MAP and CMV-frequency could be reduced. The patients could be extubated after 1-2 weeks. In severe BPD only in one case continuous improvement and extubation in the 4. week of life were possible. Here the pulmonary artery pressure in doppler-echocardiography slightly was elevated (30-35 mmHg). In a further case extubation was possible after several trials with HFO. Indeed chronic respiratory insufficiency, progredient pulmonary emphysema on x-ray and clearly elevated pulmonary artery pressure (> 40 mmHg) persisted. In 2 further cases there was no longstanding improvement of ventilation. One child died after 8 months, one after 6 months. In both cases there was a right-to-left shunt over foramen ovale and pulmonary artery pressures at systemic level. HFO led to an improvement in oxygenation and ventilation in all three cases of meconium-aspiration and probably prevented a fatal outcome in one case. The effect seems to depend on improved secretolysis and gas exchange.(ABSTRACT TRUNCATED AT 250 WORDS)

[Which is the best methotrexate schedule for maintenance therapy of childhood ALL? A randomized study]. / Randomisierte Studie zur Methotrexatapplikation in der Erhaltungstherapie der akuten lymphoblastischen Leukämie im Kindesalter.

58 children were admitted to a prospective randomized leukemia induction and CNS-prophylaxis three different protocols were followed for maintenance. A (n = 20): 6-MP (50 mg/m2) p.o. daily + MTX (20-30 mg/m2) p.o. weekly; B (n = 20): 6-MP (50 mg/m2) p.o. daily + MTX (75-150 mg/m2) i.v. every two weeks; C (n = 18): 6-MP (50 mg/m2) p.o. daily + alternating 8-week-courses of four biweekly i.v. injections of MTX (75-150 mg/m2) and four biweekly i.v. injections of Cyclo (600 mg/m2). After all patients have been followed for at least 48 months, the rates of continuous complete remission are 42% in protocol A, 63% in protocol B, and 29% in protocol C. No encephalopathies have been observed with regimen B.