Biomedical subjects
Publications and source records attributed to U M Andersen.
Primary intestinal lymphangiectasia (PIL), first described in 1961, is a rare disease of childhood. Oedema, hypoproteinaemia and diarrhoea are characteristic symptoms. Bioptic demonstration of dilated lymphatic capillary vessels in intestinal villi and increased intestinal protein loss are diagnostic. Two patients successfully treated with a low fat diet, containing medium chain triglycerides (MCT) are reported.
Subcutaneous fat necrosis (SFN) of the newborn is an uncommon disorder, which occurs during the first years of life, and has been attributed to perinatal stress. Two typical cases are presented. This inflammatory disorder of adipose tissue affects primarily the back, buttocks, arms and thighs, and consists of sharply circumscribed, subcutaneous nodules and plaques. The lesions are red or violaceous and initially tender. Usually they involute spontaneously within months. Hypercalcemia, hypotonia, poor feeding, vomiting and fever are associated with SFN. The aetiology is still incompletely understood. Therapy is not required, except when associated with hypercalcemia.
Growth hormone deficiency (GHD) associated with and secondary to asphyxiating perinatal events is a well-established disorder of childhood. However, hypoglycaemic fits due to GHD in children with cerebral palsy simulating symptomatic epilepsy do not seem well-recognized in literature. Within one year we have encountered two boys with cerebral palsy, one aged three and the other six years, who exhibited growth retardation and hypoglycaemic episodes. Both had suffered perinatal asphyxiation. Both had seizures which did not respond properly to antiepileptic drugs. Provocative tests (sleep and clonidine) disclosed GHD. Following growth hormone therapy, fits and hypoglycaemic episodes disappeared, and the children resumed normal growth.
The clinical course of subacute demyelinating polyneuropathy or Guillain-Barré syndrome (GBS) in adults is known to improve more rapidly and with fewer complications when treated with plasma exchange or intravenous immunoglobulin than supportive care alone. Recent results indicate the best improvement is found with intravenous immunoglobulin. In children little is known about the efficacy of intravenous immunoglobulin, though case reports seem to document effect. Three cases of GBS in children aged two, three and nine years, who all were treated with intravenous immunoglobulin 400 mg/kg/day for five days, are reported. There was marked clinical improvement during treatment in two children, the third child developed respiratory insufficiency needing artificial respiration during treatment, but improved rapidly after five days of intravenous immunoglobulin.
Hyperthyroidism in children is an uncommon disease. It occurs as congenital hyperthyroidism, caused by transplacental passage of thyroid-stimulating antibodies, and as Graves' disease (morbus basedowii), caused by thyroid-stimulating antibodies produced by lymphocytes. The latter has onset in pubertal children and affects girls five times as often as boys. Hyperthyroidism is very rarely seen outside these two age-groups. A case of Graves' disease in a 3 1/2-year-old boy exhibiting characteristic symptoms of hyperthyroidism is reported. In addition he had hypersalivation, a symptom not previously noticed in Graves' disease. The symptoms disappeared during antithyroid medication. At the age of nine a relapse necessitated a subtotal thyroidectomy.
Diamond-Blackfan anaemia (DBA) has been described in approximately 300 cases world wide. It is characterised by a normochromic-macrocytic anaemia in early childhood, reticulocytopenia and a normocellular marrow with a selective deficiency of red cell precursors. Foetal haemoglobin is usually increased, and DBA is associated with increased expression of "i" antigen. DBA is often associated with multiple congenital anomalies, which are described. Transient erythroblastopenia is an important differential diagnosis and the distinctive characteristics are discussed. A case of DBA in an 8-week-old boy presenting with extremely low haemoglobin (0.9 mmol/l) is presented. The literature is reviewed.
Ring chromosome 18 (46,XX,r(18)) has previously been reported in about 70 patients. Another patient with the well-known physical and cytogenetic characteristics and, in addition, skeletal abnormalities in the feet, is presented here.
A case of chronic recurrent osteomyelitis (CRMO) in a girl aged ten years is presented. This is an unusual inflammatory process which involves multiple osseous sites recurrently. The symptoms are insidious pain in the limbs associated with fever and, occasionally, pustulosis palmoplantaris. The disease is characterized by recurrent exacerbations but is self-limiting. Complete investigation including bone biopsy should be carried out for differential diagnostic reasons but repeated invasive investigations and repeated antibiotic treatment should be avoided on recognition of the disease. No consistent laboratory findings, apart from raised erythrocyte sedimentation rate, are found.