Pulmonary sarcoidosis in a 14-year-old boy diagnosed by low-dose CT-guided transthoracic lung biopsy.

Pulmonary sarcoidosis is a rare disease in the pediatric age group, characterized by the presence of epitheloid-cell granulomas. In stage 3 sarcoidosis, pulmonary infiltrates without hilar lymphadenopathy occur. Definitive diagnosis requires a histopathological specimen, which might be difficult to obtain by transbronchial biopsy. Multidetector computed tomography (MDCT)-guided transthoracic lung biopsy (TLB) is a well-established procedure in adults, but has only rarely been applied in children.A 14-year-old boy was admitted to hospital for evaluation of a chronic systemic disease with severe pulmonary manifestation. All investigations, including bronchosopy and bronchoalveolar lavage with microbiological and virological testing, had been negative. MDCT-guided TLB was performed on a 16-section scanner with a low-dose protocol (single slices, 120 kV, 20 mAs), using a 16-gauge biopsy device. The total effective dose was 0.4 mSv for the biopsy procedure. Histopathological examination revealed multiple epitheloid-cell granulomas with giant cells in the absence of microbiological or virological abnormalities. A diagnosis of stage 3 pulmonary sarcoidosis was made and systemic anti-inflammatory therapy was administered, which led to complete remission within weeks. MDCT-guided TLB can be a valuable instrument in assessing pulmonary manifestations of pediatric sarcoidosis, enabling precise histopathological diagnosis and adequate therapy. The use of low-dose protocols can substantially reduce radiation exposure without relevant loss of image information. MDCT-guided lung biopsy should be considered prior to open-lung surgery in selected patients with unclear pulmonary disease.

Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency.

Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the presenting symptom in two patients with 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency. Decreased activity of MTHFR leads to reduction of 5-methyltetrahydrofolate, the main methyl donor for methionine synthesis necessary for synthesis of S-adenosyl-methionine (SAM). Demyelination in MTHFR deficiency has been attributed to low SAM levels in the brain. The biochemical hallmarks of the disorder are hyperhomocystinemia, homocystinuria and low levels of plasma methionine. Hydrocephalus internus requiring neurosurgical intervention has to our knowledge not been reported as a presenting feature of homocystinuria due to deficiency of MTHFR so far. The surprising finding of HCI of all four ventricles in MTHFR deficiency must be kept in mind when evaluating patients with hydrocephalus of unknown origin.

Deficiency of cartilage in the segmental bronchi of a child: congenital or acquired?

The case of a 4-year-old girl suffering from a severe bronchopneumonia of the left lower lobe is presented. Microscopically no cartilage was found in the resected lobe distal to the lobar bronchus. The case is unusual because a congenital lobar emphysema associated with an aplasia of bronchial cartilage has to be considered as well as secondary cartilage destruction due to chronic relapsing inflammations.

[Effects of amrinone in myocardial insufficiency following heart surgery in children]. / Wirkungen von Amrinon bei Myokardinsuffizienz nach Herzoperationen im Kindesalter.

11 infants and children with severe congestive heart failure after cardiac surgery were treated with Amrinone. Cardiac and circulatory effects were monitored by quantitative echocardiography and blood pressure measurements. Within 1 day after the initial dose ventricular ejection fractions (EF) increased. Left ventricle: EF = 0.35 +/- 0.06 to EF = 0.49 +/- 0.06; right ventricle: EF = 0.30 +/- 0.12 to EF = 0.56 +/- 0.12. Vascular resistance dropped from R = 1527 +/- 517 dyn.s.cm-5.m2 to R = 1071 +/- 399 dyn.s.cm-5.m2. Blood pressure and heart rate remained almost unchanged. It is concluded, that Amrinone acts as a positive inotropic and vasodilating drug with the potential for effective treatment in children where conventional therapy has failed.