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Biomedical subjects

R C Sengers

Publications and source records attributed to R C Sengers.

At least 127 records · Page 7Linked to original sources
PubMed1981

Maternal phenylketonuria: the outcome of pregnancy.

This report documents the outcome of two pregnancies is a woman with phenylketonuria (PKU) who was treated with a low phenylalanine diet before conception and during pregnancy. Her first pregnancy resulted in an abortion at 17 wk. During the second pregnancy the patient was unable to maintain the right diet consistently, and her blood phenylalanine levels in the first and second trimester were elevated. This pregnancy ended in the birth of a growth retarded microcephalic infant after an amenorrhea of 42 wk. The infant has maintained a normal growth velocity below the tenth percentile, and has not shown signs of mental retardation.

Abortion, Missed↗
PubMed1981

Congenital fibre type disproportion.

Four children with congenital fibre type disproportion were described. It was shown that their type 1 fibres were at least 12% smaller than the type 11 fibres. There was no increase in the terminal innervation ratio (TIR), but a decreased number of terminal knobs was observed in the biopsy of one child. The distribution of fibre types in the biopsy of another child bears out the notion that the abnormalities as seen in the biopsy can be traced back to the spine.

Adolescent↗
PubMed1980

Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy.

An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy revealed a lipid storage myopathy. Oral daily supplementation with 2 g D, L-carnitine resulted in: (1) an increase of the growth velocity; (2) increased muscle strength, and (3) a decrease in the lipid fraction of the fibre volume. The carnitine content of the muscle biopsied prior to treatment appeared to be normal.

Biopsy↗
PubMed1980

Percutaneous needle biopsy of skeletal muscle in childhood.

The results of needle biopsies of skeletal muscle in 95 infants (age-range 2/12--17 1/12 year) are presented. The biopsies were carried out using the Vondra-needle. In all but one case an amount of material was obtained which was sufficient for histopathological examination. The needle biopsy technique has the advantage that it can be performed by the paediatrician in the outpatient department. In our experience the procedure entails no risk.

Adolescent↗
PubMed1980

Muscle phosphorylase deficiency in childhood.

Myophosphorylase deficiency (McArdle's syndrome) is an uncommon condition characterized by exercise intolerance, muscle cramps and myoglobinuria. The present report describes the clinical, histochemical, electronmicroscopic and biochemical findings in a 12-year-old boy with myophosphorylase deficiency. The diagnosis should have been suspected when the boy was 6 years old. Most index cases have not been diagnosed until adult life, but this syndrome has to be considered in the differential diagnosis of exercise intolerance in childhood.

Child↗
PubMed1979

Idiopathic arterial calcification of infancy.

A description is given of a 15-month-old girl with idiopathic arterial calcifications, detected during life time by X-ray. Radiological examination revealed calcifications in medium-sized arteries, histopathological examination showed distinct abnormalities of small vessels. The patient also had a metageria-like outward and retarded mental and motor development with myolysis. No cardiac failure was present.

Arteries↗
PubMed1978

Recurrent exertional rhabdomyolysis and stunted growth.

A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he noted bouts of pigmenturia associated with episodes of considerable malaise. The change in color of the urine was caused by myoglobin. An electromyogram was myopathic. CPK rose during 60 minutes mild exercise. Prolonged moderate exercise could not be performed. Histopathological examination of muscle biopsy revealed an increase in the number of 11C fibres (20%). Electronmicroscopy revealed the wavy outline of a number of fibres and hypertrophy of sarcoplasmic reticulum elements. No cause for the stunted growth could be detected.

Biopsy↗
PubMed1978

Chronic mild diarrhoea, stunted growth and neuromuscular abnormalities.

This report describes a 3 year-old girl with signs of ventricular hypertrophy, short stature, and persistent diarrhoea (without steatorrhoea or creatorrhoea) which was resistant to therapy. There was no clinical evidence of myopathy but a myopathic pattern was found on electromyography. Biochemical studies revealed no abnormalities. Routine histological studies of biopsied muscle showed no obvious structural abnormalities. Examination of 1 micrometer tissue sections revealed groups of atrophic fibers. Electronmicroscopy revealed widened spaces between the myofibrils with disruption of filament arrangement. The mitochondria in the motor end-plates were very distended and almost devoid of cristae.

Child, Preschool↗
PubMed1978

Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency.

A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy.

Adult↗
PubMed1978

Oculocutaneous albinism associated with motor neuron disease.

The patient described is a 14-year-old girl who suffered from an oculocutaneous albinism. The developmental milestones were reached with some delay. Gradually she experienced fatiques, and wasting of the pelvic girdle muscles and weakness appeared. In suralis nerve biopsy sections no abnormalities were found. In muscle biopsy sections the characteristic findings of a primary central neuronal muscular atrophy were seen. Based on clinical and histopathological findings it may be stated that the patient is suffering from a motor neuron disease. The chance of the combined occurrence of oculocutaneous albinism and motor neuron disease can be estimated to be one out of 750 X 10(6), unless an incestuous relation is supposed.

Adolescent↗
PubMed1977

Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism.

A very unusual pattern of organic acid excretion was established in the urine of two premature newborns with severe respiratory distress and cerebral haemorrhages. By combined gas chromatography/mass spectrometry the following acids were identified: lactic acid, alpha-hydroxy-butyric acid, beta-hydroxy-butyric acid, alpha-hydroxy-isovaleric acid, and p-hydroxy-phenyllactic acid. Calculation of the concentration revealed an excessive excretion of lactic acid and also very high excretion of the other acids. A postmortem blood sample from one of the patients revealed a comparable pattern. The abnormal urinary organic acid excretion pattern was most probably caused by severe tissue hypoxia.

Cerebral Hemorrhage↗
PubMed1977

L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.

L-Ornithine-ketoacid-transaminase deficiency was established in cultured fibroblasts obtained from a patient with hyperornithinaemia (mean ornithine level in serum approximately 100 mumol/l) and gyrate atrophy of the choroid and retina. The deficiency was found both the L-ornithine concentrations of 3.0 mM (about twice the KM value) and 12 mM, indicating that the enzymic defect was not due to a decreased affinity for this substrate. The reliability of the colorimetric assay of ornithine-ketoacid-transaminase activity was established radiochemically. Performance of the radiochemical assay revealed the presence of an impurity in the substrate DL-[2-14C]ornithine - HCl being a strong inhibitor of the enzyme. The passage level and the subcultivation time of the fibroblasts did not influence the enzymic activity.

Amino Acids↗