Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.

Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies. We report two novel mutations (c.59del17 and c.

A child with resistance to thyroid hormone without thyroid hormone receptor gene mutation: a 20-year follow-up.

We report here the 20-year follow-up study of a male subject diagnosed at 15 months of age as a sporadic case of pituitary resistance to thyroid hormone on the combination of clinical hyperthyroidism, elevated serum thyroid hormone (TH) levels and inappropriate thyrotropin (TSH). On D-thyroxine (D-T(4)) therapy from 30 months of age to 12.5 years, hyperactivity and hyperthyroid signs and symptoms as well as growth abnormalities improved, serum L-thyroxine (L-T(4)) enantiomer normalized, and basal and stimulated TSH decreased significantly without complete suppression.

Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.

Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of BCCRs. In two the probands were referred for either genetic counseling or prenatal management.

[Acute pancreatitis and valproic acid].

An 11 year-old epileptic boy, treated with valproic acid developed after 11 months on therapy a severe acute pancreatitis. Pancreatitis recurred 18 months after re-exposure to the same drug. Twenty-four cases of valproic-acid induced acute pancreatitis have been reported in the literature.

[Determination of apolipoproteins B in children: use in the screening of atherogenic risk and influence of diet].

The determination of plasma concentrations of apolipoproteins B (apo B) among 390 children (age 2-18 years) and the study of their antecedents showed that the prevalence of family histories of ischaemic cardiovascular diseases was higher among children whose apo B reached or exceeded 1.20 g/l. A low cholesterol diet was prescribed for children whose apo B levels were equal to or higher than 1.

Hyperthyroidism due to selective pituitary resistance to thyroid hormones in a 15-month-old boy: efficacy of D-thyroxine therapy.

A 15-month-old boy had clinical features of hyperthyroidism. In spite of elevated serum thyroid hormone levels (mean serum T4, 230 nmol/L; T3, 4.2 nmol/L), serum TSH levels ranged between 3.

[Digitalis poisoning in children. Treatment with anti-digoxin Fab antibody fragments. Apropos of a case and a discussion of therapeutic indications].

We report one case of Digoxin intoxication in a child treated with Fab Fragments of Digoxin-Specific antibodies (Fabad), although there was no evidence of early life threatening complications. The efficacy of this treatment, which prevents further complications as well as its safety, represent strong arguments to treat children at the early stage of the intoxication in order to avoid temporary cardiac pacing.

[A rare localization of osteomyelitis in a child].

The authors report a case of osteomyelitis of the anterio-inferior spina iliaca. This original observation actually illustrate the difficulty of the diagnosis of osteomyelitis. They stress the interest of plain radiographs which, if correctly read, would have enabled an early diagnosis, thus avoiding more complex examinations.

[Pyridoxine-dependent convulsions : familial case].

A 32 hours old boy was diagnosed as vitamin B6 dependent convulsions. This boy was the third from family, the first two died in status epilepticus at 34 hours and 15 months.

[Severe Legionella pneumopathy in an immunologically normal infant].

A case of legionnaires' disease is described in a 9 months old boy. He had a rapidly extensive bilateral pneumoniae. There was no premorbidity.

Congenital rickets. Study of the evolution of secondary hyperparathyroidism.

A case of congenital rickets of nutritional origin is described in a light-for-date premature infant (gestational age 34 weeks, birthweight 1 100 g). X-rays of the long bones showed spread, frayed and cupped metaphyses at birth and at the age of 16 days. Serum calcium was 8.