Biomedical subjects
Publications and source records attributed to M T Freycon.
The authors report two cases of citrullinemia in siblings which add to 68 observations from the literature. They overview the clinical presentation, diagnosis and therapeutic management of the disease. The prognosis of severe neonatal form remains poor but an early adequate management may contribute to an acceptable outcome.
Urinary calcium/creatinine ratio (U Ca/creat) was studied in infants, term and preterm newborn babies. In 31 1.5-24 months old healthy infants, the median U Ca/creat was 0.16 mmol/mmol (range 0.013-1.17) and was similar to the value obtained in children older than 4 years. In 55 healthy full-term newborns studied in the first week of life, the median U Ca/creat was 0.12 mmol/mmol. However the range of values was extremely wide (0.0006-4.75), suggesting that the U Ca/creat ratio is of little interest to screen for hypercalciuria during the neonatal period. In 31 premature newborns, the median U Ca/creat was 1.08 mmol/mmol, a value significantly higher than in the two other groups (P < 0.001); as in the term newborns there was a very wide range of values (0.057-6.83). However after excluding the premature babies with elevated serum 25 OHD level, this difference was not statistically significant.
Explore the source record for details and available documents.
A 3-year old child was admitted for a third relapse of nephrotic syndrome associated with intracranial hypertension related to dural sinus thrombosis (tomodensitometry). The treatment consisted in the association of low dose heparin and fresh frozen plasma. After a 3 year-follow-up, there was no neurologic sequelae, and the nephrotic syndrome was on complete remission. The radiologic features and the management of sinus thrombosis are discussed.
A study of the incidence of iron deficiency and its risk factors was carried out in 90 hospitalized or outpatient children and infants, 4 to 48 months old. Iron deficiency (serum iron concentration less than 10 mumol/l) was found in 70% of them and microcytosis (mean corpuscular volume less than 70 fl) in 10%. A good correlation was observed between hemoglobin concentration or mean corpuscular volume, and serum iron or ferritin concentrations. When risk factors were studied, 20% of the children were found to have insufficient meat or vegetable intakes. Only 45% of 6 month-old and 20% of 1 year-old infants received iron fortified milk formulas. However no significant correlation was found between the nutritional factors and the hematological data. Anemia and microcytosis were significantly more frequent in children born from immigrant parents as compared with native children, but there was no difference between these two groups for isolated iron deficiency. These results indicate that there is a need for a better prevention of iron deficiency in French infants and young children; a larger use of iron fortified milk formula until the age of 12 months is to be recommended.
The authors report on a 1-year old girl who presented with transient hypotonia and polydipsia related to renal-concentrating defect. Renal magnesium and calcium wasting were noted when the subject was 3.5 years old, in association with distal tubular acidosis and nephrocalcinosis. Hypocalcemia and hypomagnesiemia persisted when the patient was 9.5 years old. About 50 cases of tubular defects with renal magnesium loss have been reported in the literature and show that magnesium loss may be either isolated or associated with potassium and/or calcium wasting. This hereditary defect may be due to an alteration in magnesium reabsorption in the thick ascending limb of the loop of Henle.
The relationship between 24 hour urinary calcium excretion (U Ca/24 h) and urinary calcium/creatinine ratio (U Ca/creat) measured for morning and evening urine samples was studied in 56 children aged 4-15 years and hospitalized for benign conditions. Depending on the length of hospitalisation, 1 to 3 determinations of U Ca/24 h and U Ca/creat ratio were carried out for each child. Mean +/- SD U Ca/24 h was 0.05 +/- 0.058 mmol/kg. Mean U Ca/Cr, expressed in mmol/mmol, was 0.368 for total 24 h urine, 0.358 for the morning sample and 0.358 for the evening sample respectively. A good correlation was found between U Ca/24 h and 24 h U Ca/Cr ratio (r = 0.89), morning U Ca/creat (r = 0.83) and evening U Ca/creat ratio (r = 0.81) respectively. It is concluded that determination of the U Ca/Cr ratio for morning or evening urine samples is an efficient means of detecting hypercalciuria.
The authors report on the extraction of a piece of peanut impacted into the antero-internal bronchus of the right middle lobe, inaccesible to rigid bronchoscopy. After 4 months, this foreign body was visualised by flexible endoscope and removed by this technique under general anesthesia. We initially used a brush to pull the foreign body out of the distal bronchus and then used a biopsy forceps to remove it. Three months later, the chest-X-ray is normal and the child is asymptomatic.
The authors report on 2 cases of hemolytic uremic syndrome in 2 infants during a febrile Escherichia coli urinary tract infection. They discuss the role of urinary tract infection in the occurrence of hemolytic uremic syndrome and the possible role of specific Escherichia coli strains.
In attempt to evaluate the vitamin D status of the infants of our area under the mode of prophylaxis of carential rickets actually used in France, serum 25 hydroxyvitamin D (25 OHD) levels were measured in 65 infants (age 3 - 32 months) during their hospitalisation for acute illness. Most infants were receiving vitamin D either in daily doses (1,200 - 1,600 u) or in unique loading doses (200,000 - 600,000 u every 4 - 6 months). With this prophylaxis serum concentrations of 25 OHD were elevated, i.e. above 75 nmol/l, in more than 50% of the infants, reaching 474 nmol/l in one case. Calciuria estimated by the calcium/creatinine urinary ratio tended to increase in parallel with the serum 25 OHD level. From these data it is concluded that the actual prophylaxis of carential rickets in France frequently uses excessive doses of vitamin D and that new rules have to be established.
The authors report on the unusual evolution of two brothers suffering from nephrogenic diabetes insipidus after a 25-year follow-up. The polyuro-polydipsic syndrome was clinically well tolerated, without acute complications even during infancy. However, despite the lack of water restriction and the presence of thirst sensation, the children remained chronically hypernatremic. An intellectual deficiency was present, with a dysmorphic syndrome unrelated to a biochemically determined central nervous system disorder, or an X fragility. Calcifications of basal ganglia and frontal lobes were discovered on a cerebral computed tomography performed at 16 and 18 years. This syndrome may represent a specific entity.
Good clinical results are well known with the use of immunosuppressive therapy in children with idiopathic nephrotic syndrome; more recently, biological data have enhanced immunological anomalies, concerning mainly T helper lymphocytes. The need for steroids may decrease when relapsing nephrotic syndrome is associated with steroid intoxication and is absent when corticoresistance occurs. In these cases, the use of immunosuppressive agents is justified, but limited by side effects and toxicity. In patients treated with alkylating agents and now cyclosporine, good responses are often seen in frequently relapsing children whereas the course of steroid-resistant nephrotic syndrome is not significantly modified. However, the definite appreciation of such therapeutic results has to be further precised by both histological data and multicentric studies concerning new protocols.
Transient neonatal hypothyroidism was found in a boy whose mother was treated for hypothyroidism due to Hashimoto's thyroiditis. During the neonatal period the infant had antithyroid microsomal and antithyroglobulin antibodies and immunoglobulins inhibiting cyclic AMP production by thyroid cells in vitro. After one year of treatment, all antibodies disappeared. Thyroid scintiscan and fixation in the neonatal period was negative and became positive 2 months after stopping treatment with normal fixation and cervical thyroid picture. The mother's serum contained the same antibodies: they crossed the placental barrier and were responsible for neonatal pathological manifestations.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.