Coordinated ultrasound screening of infants: Hungary experience.

OBJECTIVE: In 1990, three hospitals (the Madarász Street Children's Hospital in Budapest and the general hospitals in Cegléd and Zalaegerszeg) organised a coordinated ultrasound (US) screening programme. The screening was aimed at detecting a predefined series of developmental and acquired disorders. MATERIAL: In 9 years, a total of 46,858 infants were screened by the three hospitals: 20,185 in Budapest, 13,258 in Cegléd and 12,415 in Zalaegerszeg. RESULTS: Disorders were detected in 4068 cases. Most (2885) involved abdominal or renal disorders; intracranial anomalies were found in 1062, and the remaining discoveries were of cysts or tumours in the liver, spleen or ovaries. CONCLUSIONS: Many disorders were detected (8.7%) needing either follow-up, or some form of treatment.

[Ultrasonic screening of neonates]. / Ujszülöttek ultrahang szürövizsgálata.

Till june of 1990 all newborns borned in the authors' hospital were examined with ultrasound before discharge. 7582 newborns were screened during 5 years. 120 urinary abnormalities were found (1.58%). Eleven of 26 hydronephrosis were operated and one of the two multicystic kidneys. 6 unilateral agenesis of kidney, 12 unilateral hypoplasies and 30 duplex kidneys were found. 2 of the laters had hydronephrosis, too. The form of position of 37 kidneys were abnormal. 463 newborns had pyelectasy (6.1%). All were recovered spontaneously but one of them had a gross vesico-ureteric reflux. 31 cerebral malformations were found, one of them was a progressive hydrocephalus. Two of the three babies with cerebral arterio-venous malformation died because of circulatory insufficiency. There were 38 abdominal malformations: 3 hepatic and 7 splenic cysts, 3 bile stones and one neuroblastoma were the most important. 86 delivery injuries were found: 60 adrenal apoplexies, 2 hepatic ruptures and 24 intracranial hemorrhages. All healed. The ultrasound screening in the 19-20th weeks of pregnancy showed only 24% of serious renal and cerebral malformations. The authors think important to screen newborns with ultrasound.

Pyelectasis of the newborn.

In the course of the ultrasound screening of 7057 newborns, 429 (6.1%) pyelectases were encountered (the pyelon was 5 mm or wider). Up to the termination of the study 91.7% of the newborns with pyelectasis could be controlled. In 341 (86.3%) out of the 395 controlled cases, pyelectasis disappeared without causing any disturbances. In 54 cases (13.7%) pyelectasis increased, or the considerable pyelectasis accompanied by calyectasis was not found to be reduced by the first control examinations. Vesicoureteral reflux was observed in 8 (14.8%) of these cases. Following a long-term observation period, all pyelectases disappeared or diminished considerably. Hydronephrosis was encountered in 23 newborns, 9 of them underwent surgery. The frequency of pyelonephritides was 1.4% during infancy of the newborns with pyelectasis. Pyelectasis of the newborn is considered a benign alteration. Its further examination is indicated if it increases and is accompanied by considerable calyectasis or ureterectasis.

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

Norrie-Warburg syndrome (NWS) is a rare X-linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1-base pair insertion (insT466/T467), together with a recurrent mutation (M1V), found in patients presenting with the classical clinical phenotype of NWS. All three mutations are likely to result in prominent structural changes of the norrin protein.

[Neonatal splenic cyst]. / Ujszülöttkori lépcysta.

The author found five splenic cysts during ultrasound newborn screening. The size of cysts were between 5 and 11 mm. One of them slowly arised from 7 to 11 mm during 9 months. The other four held spontaneously. There were no cyst in other abdominal organs. The author could observe the process of healing in two cases: the size of cysts did not altered but in the inside of the cysts seemed the echopoor structure of the spleen. Later the site of the cysts were not visible more. The author saw similar splenic cysts in a four and a five years old children. The first was more time investigated in his first year of life with ultrasound by the author and no cyst was visible in his spleen. The etiology is not known but the accumulation of cases in time and space refer to an infective origin.

[Congenital cholelithiasis]. / Veleszületett epekö.

The author screened 6000 newborns with ultrasound and two gallstones have found (in age 1 and 2 days). He found numerous floating echogenic spots in the gallbladder of three other newborns. The spots and one of two gallstones disappeared, the other gallstone did not changed during the first 6 months of life. The author thinks, the maternal predisposing factors have importance in the formation of intrauterine gallstones. These factors disappear after delivery and the connatal gallstones often disappear spontaneously. If they don't, the author thinks it worthy to try to resolve them with ursodeoxycholate.

Supernumerary nipples and renal anomalies.

The authors found a total of 504 supernumerary nipples in healthy newborn infants, schoolchildren and patients in the paediatric ward and outpatient clinic. The prevalence of supernumerary nipples was 4.29% among newborn infants and 5.86% among schoolchildren; 496 children with supernumerary nipples were examined with ultrasound for renal malformations and 410 acutely ill patients served as controls. The other control group consisted of 1957 newborn infants routinely screened by ultrasound. The prevalence of renal anomalies was 3.74% in children with supernumerary nipples, 3.17% in the control group, 2.86% in newborn infants with supernumerary nipples and 1.89% in control newborn infants. The differences are not significant.

[Neonatal neuroblastoma detected by ultrasonic screening]. / Ultrahang szürövizsgálattal észlelt újszülöttkori neuroblastoma.

It was found a solid tumour of 24 x 28 x 31 mm size above the right kidney with ultrasound screening in a three days old newborn. After three days appeared cystic areas inside the tumour, so it was thought to adrenal haemorrhage. The tumour didn't decrease during two months and metastases developed in the liver. The urinary VMA level was normal, the HVA elevated. The MIBG scintigraphy was first negative, after a month pathognostic. The primer tumour and metastases disappeared after cyclophosphamid and Adriablastin treatment. The adrenal neuroblastoma can imitate the adrenal apoplexy, so it's important to control all neonatal adrenal haemorrhage until their disappearance.

[Primary neonatal liver cyst]. / Ujszülöttkori primer máj-cysta.

The authors found with neonatal ultrasound screening a cyst in the epigastrium sized 45 x 18 x 36 mm. The newborn was operated at age of 7 days. The cyst was in the right lobe of the liver and after extirpation healed.

[Polythelia and renal malformation]. / Polythelia és vese fejlödési rendellenesség.

The authors found 241 polythelia (5.86) among 4113 schoolchildren (aged 6-14 years). They investigated 236 of the 241 with ultrasound and found 10 renal malformations (4.24%). Among 280 controls with respiratory infection, accident or tonsillectomy they found 9 renal malformations (3.21%). With screening of 1635 neonates they found 66 with accessory nipples (4.05%). Two of the 66 had renal malformations (3.03%), while among the 1957 control neonates 37 had renal malformations (1.89%). In the hospital and ambulancy the authors found 106 polythelia, five of them had renal abnormalities (4.72%). The authors did not found association of polythelia and renal malformation with ultrasound investigation of 408 children with polythelia.

[Bilateral neonatal adrenal hemorrhage associated with hypoadrenalism]. / Hypadreniával járó újszülöttkori, kétoldali mellékvesevérzés.

A newborn is described, who was born in term with 3250 g weight, after intrauterine hypoxia. She was born with vacuum extraction, and suffered from birth trauma and intrauterine infection. At age of one day manifested an eclampsia, which was hardly diminishable. The serum Na level was 118 mmol/l. Bilateral adrenal apoplexy was visible with ultrasound. The newborn was treated with infusion of sodium chloride and glucose, with antibiotic and glucocorticoid hormone. Her condition improved rapidly. Her serum cortisol level at 8 and 15 day after stopping of 12 days prednisolon therapy was below 2.5 micrograms/dl, marking hypadrenia. At age 3 months the function of adrenals was normal: the serum cortisol level was 11.4 micrograms/dl, and after ACTH stimulation it run up to 44.5 micrograms/dl. By screening of 1491 newborns, 13 adrenal apoplexy was found. The other 12 were one-sided and symptomless.

Ultrasonographic screening of neonatal adrenal apoplexy.

A total of 1785 newborns were subjected in the course of 14 months to ultrasonographic screening. Adrenal bleeding among those born via caesarean section has not been recorded. Among 1490 born via vagina there were 14 (0.94%) with adrenal apoplexy and 80 were delivered with clavicular fracture (5.37%). There were 13 with unilateral bleeding. Hormone examination applied to one infant with bilateral bleeding confirmed adrenal insufficiency which normalized after three months. In the aetiology of neonatal adrenal apoplexy the dominant causative role is attributed to birth trauma.

[Clavicle fracture in the newborn]. / Ujszülöttek kulcscsonttörése.

The authors have found 244 clavicle fractures during 4131 vaginal delivery (5.91%). Both clavicles of three newborns have fractured. The incidence of fracture had relation to weight of newborns, to weakness of pains and to vacuum extraction. The Apgar score of the newborns with fractured clavicle was not less, than one of newborns with unbroken clavicle. None of 704 newborns from cesarean section, and none of 52 newborns, who was born out of the hospital had fracture of the clavicle. The cause of fracture is the violent hurry of delivery, the drawing of the head before birth of shoulders. One of 244 injured newborns had permanent brachial plexus palsy. Late complication was not found. Between the injured newborns was more frequent the jaundice requiring phototherapy.

Comparison of 3-day versus 14-day treatment of lower urinary tract infection in children.

A total of 87 children were treated for lower urinary tract infection. The infection site was determined on the basis of symptoms and laboratory findings. The patients were assigned to four groups, medicated for 3 and for 14 days with nitrofurantoin or cotrimazole. Results from the short and long-term therapies have not shown any significant differences: 9 out of 43 patients in the 3-day therapy group and 8 out of 44 in the 14-day group presented recurrences within one month.

Primary aortitis in childhood.

The case of a 5-year-old boy affected by autoimmune aortitis is reported. The onset was acute, the progression rapid. Hypertension, absence of right radial pulse, elevated ESRand immune globulin levels, cellular and humoral immunity against blood vessel wall were observed. The tests suggested an autoimmune origin of the aortitis. On immunosuppressive treatment the signs of activity disappeared and the condition improved and after captopril treatment the blood pressure decreased.