Infantile osteopetrosis; bone marrow transplantation from a cousin donor

The successful correction of infantile osteopetrosis in an Asian child by bone marrow transplantation (BMT) from an HLA-A,B matched cousin donor is reported. Retrospective HLA molecular analysis revealed that patient and donor were incompatible for HLA-DPB1. Donor type cells detected in the patient after transplantation indicate successful engraftment. The patient is currently alive and well.     

Hypothyroidism secondary to topical iodine treatment in infants with spina bifida

Four infants with spina bifida, who had not undergone surgical closure of a lumbar myelomeningocele, were assessed and investigated for hypothyroidism. From birth, all were treated once daily with an iodine-containing ointment (Betadine) as a local antiseptic applied to the spina defect. All infants showed excess urinary iodine concentration. Two infants, without clinical evidence of hypothyroidism or goitre, showed low serum free thyroxine and high thyroid stimulating hormone concentrations at a mean age of four weeks and were started on thyroxine replacement treatment. Betadine ointment and thyroxine were stopped simultaneously at a mean age of nine months, following which all infants remained euthyroid. Thyroid function tests should be monitored routinely if iodine is applied as a topical antiseptic to infants.     

Variable outcome of a congenital cytomegalovirus infection in a quadruplet after primary infection of the mother during pregnancy

A congenital cytomegalovirus (CMV) infection in a quadruplet has not been reported previously in the literature. We describe a congenital CMV infection in a quadruplet after primary CMV infection of the mother during pregnancy. One infant died antenatally, while another had cholestatic jaundice at birth and died of liver failure at three months of age. Of the two surviving infants, one showed no signs or symptoms of congenital CMV infection at 18 months of age, whereas the other had hearing loss and delayed development. CMV cultures of urine were positive at six weeks of age in all three infants born alive. The diagnosis of congenital CMV infection after primary CMV infection of the mother during pregnancy was made retrospectively by detection of CMV-immediate early antigen in three placentas as well as by examination of serum obtained from the mother during pregnancy.     

Accidents and child abuse in bathtub submersions

Non-accidental bath drowning is an infrequently reported form of child abuse. Details of 44 children who suffered from drowning or near drowning in the bath were analysed from a two year (1988-9) UK study to investigate factors that might point to abuse. Cases of near drowning were notified through the British Paediatric Surveillance Unit inquiry system and drowning cases from the Office of Population Censuses and Surveys, the Scottish Government Record Office, and the Northern Ireland Office. In 28 cases the story was of accidental submersion with a baby of modal age 9 months being left unsupervised in a bath. Two other neonates briefly slipped from the parents arms while having a bath. Four bathtub drownings were related to epilepsy. In contrast 10 cases (six drowning and four near drowning) had stories very suggestive of abuse with inconsistent histories, previous history of abuse, and late presentation for medical care. A diagnosis of abuse should be considered in the differential diagnosis of atypical bathtub immersions in the absence of epilepsy and developmental delay.     

Long-term assessment of children exposed in utero to carbimazole

Twenty-five children aged 3 to 13 years who had been exposed in utero to carbimazole were assessed physically and psychologically to evaluate the long-term effects of the drug on growth and development. 2 children had congenital malformations but all had normal pituitary-thyroid function and appeared to have grown and developed normally.     

The knee: surface-coil MR imaging at 1.5 T1

Seven normal knees (in five volunteers) and seven injured knees (in seven patients) were examined by high-resolution magnetic resonance (MR) imaging at 1.5 T with a surface coil. Seven medial meniscal tears, three anterior cruciate ligament tears, one posterior cruciate ligament avulsion, an old osteochondral fracture, femoral condylar chondromalacia, and one case of semimembranous tendon reinsertion were identified. MR images correlated well with recent double-contrast arthrograms or results of surgery. All tears were identified in both the sagittal and coronal planes. Because of its ability to demonstrate small meniscal lesions and ligamentous injuries readily, MR imaging with a surface coil may eventually replace the more invasive arthrography.