[Malformations of the esophagus: diagnosis and therapy]. / Fehlbildungen des Ösophagus: Diagnose und Therapie.

Esophageal malformations are rare and can occur sporadically or as a component of various syndromes. The variations and classifications are manifold. With the available modern operation techniques most malformations can be resolved with good results. However, esophageal malformations are often combined with further malformations which limit the prognosis. The separation of the trachea and esophagus after gastrulation is not yet completely researched. The results so far indicate that the localized expression of various homeodomain transcription factors is essential for normal development of the trachea and esophagus.

Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome.

We had the opportunity to investigate the early abnormalities of the eyes in a family with osteoporosis-pseudoglioma syndrome. This syndrome combines severe premature osteoporosis with a bilateral eye disorder, leading to early onset blindness. Using colour doppler imaging in the 4-month-old girl from this affected family we demonstrated persistent hyperplastic primary vitreous in both eyes. Her brother's eyes had developed a partially calcified undefined mass. Our observation supports the hypothesis, that the disease gene may encode a matrix protein expressed in bone and eye.

An unusual case of intrauterine symptomatic neonatal liver failure.

UNLABELLED: We present an unusual case of neonatal liver failure. Isolated ascites was diagnosed in a female fetus at week 34 gestational age upon routine ultrasound. In the 35th week of gestation a cesarean section was carried out after puncture of fetal ascites. After birth the patient showed symptoms and complications of acute liver failure with portal hypertension. High serum ferritin concentrations, MRI findings compatible with tissue iron overload and no evidence for infectious disease or inborn errors of metabolism suggested possible neonatal hemochromatosis (NH). HFE gene mutation analysis studies of the child and parents were negative. An anti-oxidative and iron chelating therapy was introduced, followed by clinical stabilisation of the newborn and normalisation of liver function. The liver biopsy at 4 month of age showed mild fibrosis with a few iron-loaded hepatocytes and macrophages. At 2 years of age the child was virtually healthy. CONCLUSION: The clinical course of our patient indicates that the pathological changes in the liver being associated with presumptive NH may be reversible when NH is diagnosed early and antioxidative and chelating therapy is immediately initiated.

[Empty sella syndrome in childhood]. / Das Empty-Sella-Syndrom im Kindesalter.

6 cases of the primary empty sella syndrome, 5 boys and 1 girl aged from 1 to 22 years, are being treated. The patients became suspicious due to a deficiency of pituitary hormones, whereby a lack of growth hormone was most common. 5 patients were short of growth; in provocative tests all 6 children showed either a partial or a complete deficiency of growth hormone. 2 patients had secondary hypothyroidism, 2 hypogonadotropic hypogonadism. Sceletal maturation was retarded between 2/12 and 4 4/12 years in all cases. All patients underwent a skull roentgenogram. An enlargement of the sella turcica was found in the case of one boy only. The findings of the other 5 children were inconspicious. For all patients the diagnosis was testified by a cranial computer-tomography.

[Familial Mediterranean fever--a case report]. / Das familiäre Mittelmeerfieber--Ein Fallbericht.

A case of a ten years old boy with recurrent fever and abdominal pain starting at the age of five years is reported. Later the attacks were accompanied by chest pain. There were only indifferent changes in laboratory examination. Neither a wide range of antibiotics, nor appendectomy and tonsillectomy prevented the boys symptoms. The diagnose was established after five years by a positive Metaraminol test, that precipitated a disease-like attack. The therapeutic use of colchicine-salicylate reduced the severity and frequency of attacks in out patient. In agreement with other authors it should be emphasized, that in general the benefit of colchicine outweighs possible side effects of a long term therapy also in children.

[Disorders of thyroid gland function--hypothyroidism in childhood. An ambulatory follow-up study]. / Störungen der Schilddrüsenfunktion--Hypothyreose im Kindesalter. Eine ambulante Kontrolluntersuchung.

42 children with different kinds of hypothyroidism, who had been treated with thyroid hormones during several years, were thoroughly follow-up examined in 1988. Apart from few exceptions, patients in therapy attained standard data in length. Concerning skeleton maturation, clear differences between boys and girls were found. While male patients, with one exception, showed a retardation of bone-age, in females both, retardation and acceleration of bone-development were found. Serum concentration of FT4 and FT3 were chosen as hormonal parameter, and TSH was taken basal and after stimulation with TRH. Normal FT4 levels were found in 29 patients. In 5 children FT4 was significantly lower, in 8 cases an elevation of this serum-parameter was observed. Measurement of serum FT3 in 27 patients showed normal levels in 18 children. In 4 cases low and in 5 elevated FT4 levels were found. 29 patients had basal TSH concentrations within normal range, in 13 the estimated levels were elevated. TRH-stimulation carried out on 40 children showed normal serum TSH response for 13 of them. In 14 children an exaggerated TSH response to TRH occur, in 13 TSH still remain low after stimulation with TRH. Serum-GOT, -GPT, -Gamma GT and -CK were determined as encymic parameters. In 5 patients a typical hypothyroidism-associated GOT- and CK-elevation was found. 3 children showed an isolated rise of GOT-, 8 an isolated CK-elevation.

[Sonography of the central nervous system in prematures and newborns]. / Sonographie des Gehirns und Rückenmarks bei Früh- und Neugeborenen.

UNLABELLED: Examination of the central nervous system in premature and full-term infants requires a sensible selection of the available diagnostic procedures such as ultrasound, MRI and CT to allow sufficient and accurate diagnosis and management. ULTRASOUND: Ultrasound, including the various Doppler techniques, is a very reliable, safe, noninvasive diagnostic tool that allows evaluation of even severely ill patients in intensive care units. It is especially well suited for the study of intracranial hemorrhage, hypoxic-ischemic encephalopathy, congenital malformations of the brain and lesions produced by intrauterine and acquired infections. Sonography is also very reliable in examination of spinal dysraphism and spinal cord injuries during birth. The necessity of surgical intervention (i.e. shunt implantation) as well as subsequent postoperative follow-up can be provided. MRI: In contrast to ultrasound, MRI is most useful to demonstrate the age-dependent myelinization pattern and clearly discriminates between the white and gray matter of the central nervous system. We therefore use MRI for the detection of complex malformations of the central nervous system in particular disorders of cell migration and for a final estimation of a perinatal brain injury. CONCLUSION: A precise ultrasound examination performed by an experienced physician who is familiar with the expected pathology and has access to a well-adjusted ultrasound machine should help to minimize the use of confirming CT and MRI investigations and to optimize their optional use in more complex cases.

Early mortality in childhood diabetes in Austria--a population based cohort study.

UNLABELLED: All Austrian patients with insulin dependent diabetes diagnosed between 1979 and 1990 and age at onset below 15 years were followed from manifestation until death or until 31 December 1990 by cross linking the diabetes registry data with the National Mortality database (death certificates). Out of the cohort consisting of 1185 cases, 6 had died during the study period, resulting in a standardized mortality ratio of 1.53 for the total cohort. Of the patients 50% died due to acute diabetic complications including 2 children at onset of the disease. The risk for premature death in this cohort of very young insulin dependent diabetes mellitus patients was only slightly increased. In comparison to previous studies it is rather low, but comparable to recent investigations in northern Europe. CONCLUSION: Although the mortality of diabetic children and adolescents in Austria is only marginally higher than in nondiabetics, there are still deaths which should be preventable in this age group.

[Diagnostic imaging in acute neurological status in childhood]. / Bildgebende Diagnostik neurologischer Akutsituationen im Kindesalter.

The diagnostic imaging of children with acute, non-traumatic, neurologic symptoms enables a fast and non-invasive localization and diagnosis. A spectrum of typical disorders will be described dependent on the location of neurologic symptoms (central, spinal, or peripheral nervous system). Different non-invasive imaging modalities e.g. US with colour-coded doppler, CT, MRI are utilized dependent on age of the patient and neurologic symptoms. The purpose of this article is to describe the spectrum of diagnostic imaging for each of these common disorders.

Diagnosing neonatal female genital anomalies using saline-enhanced sonography.

OBJECTIVE: The purpose of this article is to show the usefulness of sonography in diagnosing genital anomalies early in female neonates who have unilateral renal malformations. Our patients were three female neonates with renal anomalies that had been detected in utero. We performed sonography of the inner genitalia of each girl after filling the vagina with saline solution. In two patients with multicystic dysplastic kidney disorder, the examination revealed uterus didelphys with obstruction of one of the vaginas. Sonographic examination of the third patient showed Gartner's duct cyst with renal agenesis. CONCLUSION: The neonatal period provides a unique opportunity to use sonography to detect uterine anomalies because maternal and placental hormone stimulation increases the size of the uterus. Simultaneous intravaginal saline instillation during imaging further improves the radiologist's ability to diagnose genital malformations precisely. This procedure is a simple, sensitive, and inexpensive examination method that is useful in imaging female neonates with renal dysplasia or agenesis detected in utero or in the neonatal period. Its particular value is to further characterize a cystic mass posterior to the bladder that is seen at transabdominal sonography.

Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma and discuss the different aetiological considerations of both syndromes and implications for clinical management.

[High-resolution computed tomography (HRCT) of the pediatric lung]. / Hochauflösende Computertomographie der Lunge bei Kindern und Jugendlichen.

High-resolution computed tomography (HRCT) of the lung is a very valuable method in the evaluation of children with acute and chronic lung disease due to the high spatial resolution and precise display of anatomy and pathology without superposition. The following publication will describe an optimized HRCT technique in order to reduce dose, explain various HRCT pattern and explain typical pediatric lung diseases.

[Sonographic diagnosis of congenital dacryocystocele]. / Sonographische Diagnose kongenitaler Dakryozystozelen.

AIM: Congenital obstruction of the nasolacrimal drainage system occurs quite commonly. The reason is usually an impaired canalization at the distal end of the nasolacrimal duct with a residual membrane between the duct and the nasal cavity. Dacryocystocele is believed to result from a concomitant upper and lower system obstruction, causing fluid accumulation and distension of the lacrimal sac. The patient presents at birth with a tense, blue-grey swelling located just below the medial canthal tendon. The differential diagnosis for dacryocystocele includes haemangioma, encephalocele, glioma, dermoid cysts and malignant processes. MATERIAL AND METHODS: We demonstrate five typical cases to describe the sonographic features of dacryocystocele. RESULTS: Ultrasound is a simple, straight forward and gentle method to reliably distinguish dacryocystoceles from other pathologies. A sedation of the patient is not necessary. The sonographic appearance of a cystic mass medial and inferior of the orbit communicating with the dilated nasolacrimal duct as well as the typical content of fluid and debris was diagnostic of a nasolacrimal mucocele or dacryocystocele. Other more invasive imaging techniques as CT-scans and MRI are of benefit only if there is any doubt about the diagnosis.

[Pulmonary lymphangiectasis with spontaneous chylothorax in Noonan syndrome]. / Pulmonale Lymphangiektasien mit spontanem Chylothorax bei Noonan-Syndrom.

We report a case of Noonan syndrome associated with pulmonary stenosis and major lymphedema of the lower extremities. At the age of 15 yr spontaneous chylothorax with increasing dyspnea occurred> Chest-x-ray demonstrated increased interstitial markings restricted to the right lower lobe representing pulmonary lymphangiectasia. The chylothorax did not respond to repeated thoracocentesis and medium-chain-triglyceride diet. When a chest tube was inserted and total parenteral nutrition was supplied, the chylous effusion decreased within 32 days. The patient is still on diet and asymptomatic effusion remained during 12 months follow up. In conclusion, pulmonary lympgangiectasia should be considered in patients with Noonan syndrome and an abnormal interstitial pulmonary pattern similar to pulmonary congestion (without any hemodynamic abnormalities). In case of pleural effusion, chylothorax should be considered.

US of the spinal cord in newborns: spectrum of normal findings, variants, congenital anomalies, and acquired diseases.

Ultrasonography (US) of the spinal cord is performed in newborns with signs of spinal disease (cutaneous lesions of the back, deformities of the spinal column, neurologic disturbances, suspected spinal cord injury due to traumatic birth, and syndromes with associated spinal cord compression). The examination is performed with high-frequency linear- and curved-array transducers in the sagittal and axial planes from the craniocervical junction to the sacrum. Normal variants such as transient dilatation of the central canal and ventriculus terminalis can be demonstrated with US. US allows detection of congenital malformations, such as myelocele or myelomeningocele, spinal lipoma, dorsal dermal sinus, tight filum terminale syndrome, diastematomyelia, terminal myelocystocele, lateral meningocele, caudal regression syndrome, and hydromyelia or syringomyelia. Acquired intraspinal diseases following birth trauma and transient alterations after lumbar puncture can also be detected with US. US can demonstrate the entire spectrum of intraspinal anatomy and pathologic conditions with high geometric resolution. Therefore, US should be considered the initial imaging modality of choice for investigating the spinal cord in newborns.

Azygos continuation of the inferior vena cava: sonographic demonstration of the renal artery ventral to the azygos vein as a clue to diagnosis.

OBJECTIVE: The purpose of this report is to describe the relationship between the renal artery and the azygos vein in patients with congenital infrahepatic interruption of the inferior vena cava with azygos continuation. CONCLUSION: Using abdominal sonography, we showed that in patients with interruption of the inferior vena cava with azygos continuation, the renal artery is ventral to the azygos vein. Because this malformation is frequently associated with cardiac and situs anomalies, awareness of the anatomic relationship between the renal artery and the azygos vein can aid in diagnosis and may substitute for more expensive and invasive diagnostic procedures.