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Biomedical subjects

I Gassner

Publications and source records attributed to I Gassner.

At least 37 records · Page 2Linked to original sources

Reversible hepatic veno-occlusive disease in an infant after consumption of pyrrolizidine-containing herbal tea.

UNLABELLED: Veno-occlusive disease was diagnosed in an 18-month-old boy who had regularly consumed a herbal tea mixture since the 3rd month of life. The boy developed portal hypertension with severe ascites. Histology of the liver showed centrilobular sinusoidal congestion with perivenular bleeding and parenchymal necrosis without cirrhosis. The tea contained peppermint and what the mother thought was coltsfoot (Tussilago farfara). The parents believed the tea aided the healthy development of their child. Pharmacological analysis of the tea compounds revealed high amounts of pyrrolizidine alkaloids. Seneciphylline and the corresponding N-oxide were identified as the major components by thin-layer chromatography, mass spectrometry and NMR spectroscopy. We calculated that the child had consumed at least 60 micrograms/kg body weight per day of the toxic pyrrolizidine alkaloid mixture over 15 months. Macroscopic and microscopic analysis of the leaf material indicated that Adenostyles alliariae (Alpendost) had been erroneously gathered by the parents in place of coltsfoot. The two plants can easily be confused especially after the flowering period. The child was given conservative treatment only and recovered completely within 2 months. CONCLUSION: In all cases of veno-occlusive disease pyrrolizidine alkaloids ingestion should be excluded. The identity of collected plant material should be verified by pharmaceutically trained experts and information of composition, dosage and mode of administration should be included in guidelines for herbal preparations.

Hepatic Veno-Occlusive Disease↗

Diagnosis of congenital pericardial defects, including a pathognomic sign for dangerous apical ventricular herniation, on magnetic resonance imaging.

OBJECTIVE: To establish criteria for the accurate diagnosis of different forms of left sided pericardial defects on magnetic resonance imaging. Early detection of a partial apical defect is essential as it is potentially fatal. DESIGN: Examination of four children with congenital pericardial defects by magnetic resonance imaging, the results being compared with the features on conventional chest radiography and echocardiography and with published data. RESULTS: Magnetic resonance imaging improved the ability to diagnose and distinguish between complete and partial left sided pericardial defects. A deep myocardial crease was visualised in a patient with apical pericardial defect, indicating the risk of a life threatening ventricular strangulation. A prominent left atrial appendage was, in contrast to many reports, not a reliable sign for partial left sided pericardial defect. CONCLUSIONS: The various forms of congenital left sided pericardial defects cannot reliably be diagnosed in plain chest radiographs or on echocardiography. Their diagnosis and the distinction between partial and complete defects, however, is of clinical importance and can be accomplished more confidently by magnetic resonance imaging.

Adolescent↗

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.

Abnormalities, Multiple↗

Methotrexate osteopathy in infants with tumors of the central nervous system.

Methotrexate osteopathy, previously reported as a complication of maintenance-therapy for acute lymphoblastic leukemia, is characterized by osteopenia, particularly involving the lower extremities, thick, dense provisional zones of calcification, growth arrest lines, and corner fractures resembling scurvy. In attempts to postpone radiotherapy in infants under three years of age, the multicentric German therapy protocol for childhood central nervous system tumors (HIT-89 protocol) has employed high cumulative methotrexate doses. Here we describe osteopathy in three patients as a toxic side effect after administration of cumulative methotrexate doses of 20 g/m2, 80 g/m2 and 135 g/m2. The high prevalence of this adverse effect in infants with tumors of the central nervous system may be attributed to the long-term therapy with high cumulative methotrexate-doses. Both factors may favor intracellular accumulation of methotrexate and formation of methotrexate-polyglutamates and may be responsible for bone toxicity. Apparently the susceptibility of the rapidly growing skeletal structures of infants under three years of age to this toxic side effect of methotrexate is remarkably high.

Antineoplastic Combined Chemotherapy Protocols↗

Spontaneous pneumocephalus in a newborn infant with myelomeningocele and hydromyelia.

The authors report a preterm boy, born at 35 weeks gestation with hydrocephalus and an open sacral myelomeningocele. Cranial ultrasound showed ventricular dilatation with posture-dependent intraventricular bright echoes, representing air. Ultrasound of the cervical spine and the craniocervical junction revealed marked hydromyelia of the whole spinal cord, as well as a Chiari II malformation. Air penetrating the enlarged central canal through the neural tube defect and subsequently ascending to the cranial cavity was demonstrated by fluoroscopy. After a review of the literature, the authors conclude that the association of spontaneous pneumocephalus with myelomeningocele could indicate severe hydromyelia. These malformations are readily demonstrated by ultrasound in newborn infants.

Humans↗

Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.

We present a female patient with laryngeal anomalies, tracheostenosis and pre- and postaxial polydactyly. Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (OFD) type II syndrome. Three similar cases of OFD syndrome with hypoplasia of the larynx, epiglottis and/or trachea without tibial dysplasia have been previously reported by Silengo and Temtamy and McKusick. The present patient adds one more case to this group of variants of OFD syndrome. We believe that those cases may be considered to form a separate subentity of OFD syndromes although overlapping features within the different subtypes make a precise classification very difficult.

Diagnosis, Differential↗

Teratoma of the umbilical cord. Case report with review of the literature.

Teratomas of the umbilical cord are very rare lesions. We found only five cases in the literature from 1887 to 1993, the latest reported in 1985. We report a case of a 10 x 7 x 5-cm mass located just at the end of an omphalocele in the umbilical cord of a full-term baby. The mass exhibited something like a cranial and a caudal pole, and tissues of all three germinal layers could be found, but there were no skeletal structures. Therefore, this lesion was diagnosed as a teratoma of the umbilical cord. We review the literature and discuss the relationship between the teratoma of the umbilical cord and the holoacardius amorphus.

Adult↗

Pseudotumoral cystitis.

Pseudotumoral cystitis is an unusual lesion and since it may be confused with rhabdomyosarcoma, knowledge of its existence is important. We report eight cases.

Child↗

[Cerebral malformations in the 30th-36th pregnancy week--diagnosis and consequences].

When serious cerebral malformations of the fetal cerebrum are diagnosed, the pregnancy is in most cases so far advanced, that termination would be difficult medically, controversial ethically and--depending on legislation--impossible legally. Most cerebral malformations associated with hydrocephalus appear late in the 2nd and early in the 3rd trimester. Routine pregnancy ultrasound scan of the fetal brain is difficult due to the dynamic changes in cerebral anatomy during normal pregnancy and due to the artefacts produced by intra-cranial reverberations. The concept that there is a "right time" for in utero diagnosis of fetal hydrocephalus is reviewed. Unequivocal early diagnosis is only possible in cases of anencephaly. 15 cases of severe cerebral malformations that were seen during prenatal ultrasound at Innsbruck University Hospital are presented "Nonaggressive Obstetric Management" as a novel and structured approach to such cases is discussed.

Abortion, Induced↗

[A rare case of venous drainage in intralobar pulmonary sequestration].

We report on a 6-year-old boy with an area of opacity in the right lung that persisted after a feverish respiratory tract infection. Aortography confirmed the suspected diagnosis of pulmonary sequestration. An intralobar sequestration supplied with blood from a supradiaphragmatic and an infradiaphragmatic artery arising from the descending aorta was seen. The venous drainage occurred via the right upper lobe vein, and, most unusually, also to the right pulmonary artery. The clinical findings, diagnostic possibilities and differential diagnostic considerations are discussed.

Aortography↗

[Improvement in the informativeness of diuretic kidney function scintigraphy by calculation of a washout index].

Diuresis renography after administration of 123I-(131I-)Hippuran of 248 patients (492 kidneys) were compared retrospectively with clinical findings, history, i.v. urography, and ultrasound examinations. A new wash-out-index was calculated. In cases with obstructive dilatation of the collecting system this index was smaller than 0.9. If it was 0.9 to 1.2 additional diagnostic procedures seem necessary. An index more then 1.4 excludes obstruction. The shape of the renogram curve after furosemide is important for the diagnosis too. A concave shape was found in non-obstructive dilatation, a convex shape in obstructive dilatation of the renal pelvis. The wash-out-index is a reliable parameter if cases with reflux, lower ureteral obstruction and shrunken kidneys are excluded.

Humans↗

[Severe course of osteopathy in Lowe's oculocerebrorenal syndrome].

A boy with oculo-cerebro-renal syndrome died at the age of 5 months after a rapid course of this disease with severe osteopathy resistant to therapy. Radiological findings and parameters of mineralisation metabolism will be shown. There are signs indicating both, a disturbed osteoid production due to the underlying disease and a diminished bone mineralisation because of the renal involvement.

Bone and Bones↗