[Home artificial respiration in a girl with Ondine-Hirschsprung syndrome (Haddad's syndrome)]. / Kucno strojno prodisavanje u djevojcice s Ondine-Hirschsprungovim sindromom (Haddadov sindrom).

A case of 5.5-year-old girl with Haddad syndrome (congenital central hypoventilation syndrome-CCHS or Ondine's curse and Hirschsprung's disease) is presented. At the age of 1.5 months, due to severe colonic aganglionosis, temporary colostomy was performed. At the age of 4.5 years the sigmoid colon and left colon were resected and temporary colostomy was closed. Since birth, the sleep central hypoventilation characterized with shallow respirations and frequent apnoeas was noticed. The child's life was compromised and therefore the postoperative recovery was complicated and prolonged. Cardiac exam showed initial signs of pulmonary hypertension and right-sided failure. At the age of 4.5 years assisted positive pressure ventilation via face mask, with transportable ventilator was initiated during sleep and was successfully performed at home. Since then the cardiac exam showed no abnormalities. There are no significant abnormalities at neurological exam while EEG shows minimal irritative changes. The girl's physical and psychomotoric development is progressive and she is having an excellent peer contact. We expect even better quality of life after the implantation of the diaphragmatic pacemaker which is planned at early school age.

Radioangioscintigraphy and Doppler echocardiography in the quantification of left-to-right shunt.

The magnitude of left-to-right shunt in 55 children with isolated congenital heart disease [atrial septal defect (ASD) or ventricular septal defect (VSD) (muscular and perimembranous)] was estimated by two methods: radionuclide quantification and Doppler echocardiography [flow (L/min) = mean velocity x area x ejection time x heart rate]. We found little difference between the magnitude of left-to-right shunt obtained with Doppler echocardiography and that with radioangioscintigraphy for a whole group of patients (N = 55, -11.42% to 12.04%) and for subgroups of ASD (n = 24, -12.49% to 12.19%) and VSD (n = 31, -10.69% to 12.23%). These results indicate that Doppler echocardiography, in comparison with radioangioscintigraphy, is sufficiently accurate for clinical estimation of the Q(p)/Q(s) ratio in isolated congenital heart disease with left-to-right shunt.

Complex disorder of neuronal migration in an infant with possible congenital cytomegalovirus infection.

A ten-months-old girl was evaluated for developmental delay, increased muscle tone and seizures. CT and MRI revealed un uncommon combination of two different manifestations of neuronal migration disturbance: agyria/pachygyria and subcortical laminar heterotopia ("double cortex" syndrome). The occurrence of these two manifestations of neuronal migration dosorders in the same individual is quite unusual. The possible pathogenesis of such a complex disorder could probably be established only by histologic examination of the brain. A positive serologic reaction for cytomegalovirus in the infant at the age of 11 months and in the mother suggested but did not prove the cytomegalovirus infection in early gestation as the cause of the disorder.

[Incipient pericardial tamponade as the first symptom of systemic lupus erythematosus in 2 children]. / Prijeteca perikardijalna tamponada kao prvi simptom sistemnog eritemskog lupusa u dvoje djece.

Two patients (a boy and a girl), with systemic lupus erythematosus (SLE), in which pericarditis with threatening tamponade was an initial symptom of disease, are presented. Pericardial tamponade is very rare initial manifestation, described in only 1-3% of all the cases of SLE. The typical clinical features of tamponade are described (tachycardia, hypotension, venous congestion) and the importance of echocardiography in early diagnosis of pericarditis and pericardial tamponade is pointed out. Therefore, the echocardiography is considered as the complementary method in diagnosis of SLE.

[Modern diagnosis and treatment of pheochromocytoma in children]. / Suvremena dijagnoza i lijecenje feokromocitoma djece.

Pheochromocytoma is a rare tumor of chromaffin tissue of the adrenal gland that synthesizes, stores and releases cathecolamines. In 10% of the patients it arises outside the adrenal gland, and has been called paraganglioma. The following study describes our experience in the diagnostic process and treatment of pheochromocytoma in two children, a 8-year-old boy with the right ureteral paraganglioma, and a 8-year-old girl with pheo-chromocytoma of the leftsuprarenal gland. Characteristic clinical features with predominant signs of hypertension, as well as the diagnostic flow diagram, have been presented. We have analysed recent diagnostic possibilities, sensitivity of diagnostic methods (ultrasonography, CT, selective angiography and J131 MIBG scintigraphy), indications for their use, and the importance of appropriate preoperative management. The major role of the J131-metaiodobenzilguanidine scintigraphy in diagnostic assessment, especially in precise preoperative localization and postoperative verification of tumour removal, has been stressed.

Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child.

A 14-year old boy was admitted for signs of heart failure and scapuloperoneal muscle weakness. He fulfilled the clinical, functional and diagnostic criteria for dilated cardiomyopathy. There was also a moderate increase in pulmonary vascular resistance. The immunohistochemical examination of the heart muscle revealed a slightly positive phytohemagglutinin reaction and minimal IgM deposits without complement. The electron microscopy examination disclosed increased numbers of abnormal mitochondria disrupting the usual cell structure; the mitochondria were of various sizes with irregular and abnormal structure of the cristae. The scapuloperoneal spinal muscular atrophy was mild and diagnosed according to clinical and electromyographic findings. Light microscope examination of the skeletal muscle revealed hypotrophic fibers. This patient is presumed to have postinflammatory mitochondriopathy and is currently being managed on low-dose digitalis, diuretics and captopril.

Cardiomyopathies in children with neuromuscular disorders.

In this paper eight patients with myogenic or neurogenic muscle disorders are presented, in whom cardiomiopathy was also found. Six patients developed a dilated cardiomiopathy associated with neurogenic atrophies or progressive muscular dystrophy. In patients with Mb. Friedreich and HSNM type II together with the total dilatation of the septum hypertrophy was observed and in patients with spinal muscular amyotrophy of scapuloperoneal type atriomyopathy dominated. In two patients with mitochondrial disorders a hypertrophic cardiomyopathy was found. One of them had mitochondrial encephalomyoneuropathy and the other mitochondrial encephalopathy with myoclonic epilepsy. In none of them a restrictive cardiomyopathy was found. From the presentation could be concluded that in neurogenic muscle diseases and progressive muscular dystrophy respectively most frequently dilated cardiomyopathies have been developed. Hypertrophic cardiomyopathies are usually found in children with mitochondrial disorders.