[Comparison of the phenylalanine determination by ion exchange column chromatography and the guthrietest in treated phenylketonuric children (author's transl)]. / Vergleichende Phenylalaninbestimmungen im Blut durch Chromatographie an Ionenaustauschersäulen und Guthrietest unter phenylalaninarmer Diät bei Phenylketonurie

Simultaneous measurements of phenylalanine by ion exchange column chromatography and microbiologal inhibition test according to Guthrie were performed on 22 treated children with phenylketonuria within two years. The results coincide in 40,3% (229 of 569 estimations), in 15,8% the real phenylalanine concentration by the method of Guthrie were overestimated, in 43,9% underestimated. Bacterial inhibition assay is successful in routine screening of phenylketonuria in the newborn, but not suitable for dietary control of phenylketonuria.

[Hereditary non-allergic angioneurotic edema and the complement system (author's transl)]. / Hereditäres, nicht allergisches angioneurotisches Odem und Komplementsystem

By way of example of a patient and his family and by means of the literature, the present knowledge of pathogenesis and therapy of hereditary non-allergic angioneurotic edema has been reviewed.

[Hypertension and bilateral stenosis of the renal artery associated with congenital hypoplasia of the intrahepatic bile ducts (author's transl)]. / Hypertension und Nierenarterienstenose bei Hyperlipidämie durch kongenitale intrahepatische Gallengangshypoplasie

Report of a 10-year-old boy with congenital hypoplasia of the intrahepatic bile ducts, the socalled MacMahon-Thannhauser-Syndrome. The patient had been suffering from a varying degree of jaundice since his 2nd day of life and from pruritus since his 21st month of life. Furthermore, he had hepatomegaly, a systolic cardiac murmur, hypogenitalism, retarded growth, and finally hypertension. Transitory xanthomas existed between 1 3/4 and 2 3/4 years of age. Signs of persistent intrahepatic cholestasis was manifested by increased levels of bilirubin and bile acids in serum as well as raised activities of leucine aminopeptidase, gamma-glutamyl transpeptidase and alkaline phosphatase. Pathological values of serum glutamic dehydrogenase pointed to a persistent destruction of liver cells. Without treatment, the activities of vitamin K dependent clotting factors were decreased. Cholesterol, phosphatides and triglycerides in serum were increased and lipoprotein-X was detectable. Aortography revealed stenosis of both renal arteries. An exploratory laparotomy and 5 liver biopsies led to the diagnosis of hypoplasia of the intrahepatic bile ducts. Therapeutic trials with steroids and the anion exchange resin "cholestyramine" were ineffective. Phenobarbital relieved the pruritus. Parenteral administration of fat soluble vitamins restored the activity of vitamin K dependent clotting factors to normal. The high blood pressure fell significantly due to treatment with adelphan. The etiology of hypoplasia of the intrahepatic bile ducts is unknown. It may be a malformation or an obliteration secondary to inflammation. In our patient, narrowing of the renal arteries, increase of plasma-renin activity and hypertension were probably secondary to hyperlipidemia. It has been suggested that hyperlipemia secondary to cholestasis may be due to a disturbance of lipoprotein metabolism. A review of reports on 118 patients suffering from intrahepatic bile ducts hypoplasia is included.

[Juvenile spongy dystrophy of CNS with necrosis of the medulla. A. complication of hydroxyquinoline therapy (author's transl)]. / Juvenile spongiöse Dystrophie des ZNS mit Medullanekrose. Komplikation einer Hydroxychinolin-Behandlung?

A girl of 10-5/12 years is described, who had diabetes mellitus from the age of 5 years on and who developed bilateral ptosis, pigment degeneration of the retina and bilateral impairment of hearing at the age of nine years. A few weeks before death she suffered from an acute gastrointestinal infection which was successfully treated by a hydroxyquinoline derivative. In the days following a severe encephalopathy and signs of cardiac involvement appeared. A month later the girl died of bulbar paralysis and acute heart failure. Histology showed remnants of a granulomatous inflammation in the heart, the kidneys, the pancreas and the skeletal muscles. Furthermore there was a widespread spongiosis in the white substance of the brain, with large astrocytes, and partly also in the basal ganglia, the brain stem and the cerebellum. Foci of sudanophilic tissue necrosis resembling Wernicke's Encephalopathy were found in the medulla oblongata and the spinal cord. The peripheral nerves appeared partially demyelinated and showed axonal lesions. This case is classified as a Juvenile Type of so-called Canavan's Disease. It shows some resemblence to the "Progressive Chronic Ophthalmoplegia with Spongiform Encephalopathy described by Daroff, Kearn and Sayre. The possible neurotoxical effects of the hydroxyquinoline therapy are discussed.

[Reticulosarcoma-like skin lesions in phenylketonuria (author's transl)]. / Sarkomähnliche Hautveränderungen bei Phenylketonurie

Reticulosarcoma-like skin lesions are described in a boy with phenylketonuria (PKU) who was observed for 11 years. Association of the lesions with PKU is indicated by their dependence on the severity of the latter and their complete healing during treatment with low phenylalanine diet.

[Alpha-antitrypsin deficiency in infancy]. / Alpha1-Antitrypsin-Mangel im Säuglingsalter. Klinische, biochemische, morphologische, immunhistochemische und genetische Befunde bei zwei Säuglingen

Clinical, histological (including electron-microscopic), immunohistochemical and genetic studies were performed on two infants with alpha1-antitrypsin deficiency. The clinical picture was one of neonatal biliary stasis. Liver biopsies revealed multiple cytoplasmic acidophilic bodies within many cells of the liver parenchyma which were strongly periodic acid-Schiff-positive, diastase-resistant and stained selectively with fluorescein-labelled rabbit antihuman alpha1-antitrypsin. Ultrastructurally, the bodies were situated within enlarged cisterns of the endoplasmatic reticulum. Both infants were of the protease inhibitor (Pi) phenotype ZZ, having inherited on PiZ gene from each parent. Results of Pi typing of both families were consistent with an autosomal co-dominant inheritance. Both infants are clinically well except for slight hepatomegaly at one year of age. But transaminase and gamma-glutamyl transpeptidase activities have remained elevated.