[Aeromonas caviae infection mimicking inflammatory bowel disease in a child]. / Op inflammatoire darmziekte lijkende infectie met Aeromonas caviae bij een kind.

A 10-year-old girl presented with a pancolitis with watery bloody diarrhoea. Her family history revealed the presence of inflammatory bowel disease. Whilst awaiting the diagnostic tests results, the stool cultures showed Aeromonas caviae. The disease resolved spontaneously. After 24 months there were no further signs of illness, notably no inflammatory bowel disease. This case represents a more severe form than the mild diarrhoea that is usually described in the literature. In a retrospective search of the hospital database, covering the previous 5 years, 188 patients with positive Aeromonas cultures were found, but the patient described was the only one with bloody diarrhoea with a monoculture positive for A. caviae.

Frequent adverse events after treatment for childhood-onset differentiated thyroid carcinoma: a single institute experience.

Since the mortality rate for childhood differentiated thyroid carcinoma is nearly zero, the focus must be to minimise morbidity following treatment. Our aim was to analyse early and late adverse events. Twenty-five of 26 children treated between 1962 and 2002 were evaluated. Median follow-up was 14.2 years (range 0.9-39.4 years). All underwent total thyroidectomy, 15 (60%) with lymph node dissection and 15 (60%) with adjuvant radio-iodide therapy. Mortality was zero. Seven developed recurrent disease, two developed a third recurrence. Twenty-one (84%) had > or =1 adverse event. Eight had permanent hypoparathyroidism (PH), six permanent recurrent nerve paralysis (PRNP) and two Horner's syndrome. Risk factors for PH and PRNP were total thyroidectomy with lymph node dissection (RR: 6.45, P = 0.015) and recurrent nerve tumour encasement (RR: 8.00, P = 0.001), respectively. Other adverse events were fatigue (n = 5), scar problems (n = 4) and chronic myeloid leukaemia (n = 1). These results emphasise the need to improve treatment strategies.

Absence of activating mutations in ras and gsp oncogenes in a cohort of nine patients with sporadic pediatric thyroid tumors.

BACKGROUND: Characterization of the genetic background of pediatric thyroid carcinomas could aid in distinguishing between differently staged tumors with respect to treatment and prognosis. Two known genetic factors associated with thyroid carcinoma, the proto-oncogenes gsp and ras were investigated. PROCEDURE: DNA was extracted from paraffin sections from both tumor and normal thyroid tissue of nine patients (ages 9-16 years). Of these patients, eight were diagnosed with papillary carcinoma and one with follicular adenoma. The coding exons of gsp and the three known ras genes (H, K, and N-ras) were screened for mutations using SSCP-analysis. RESULTS: There were no mutations present in the ras and gsp proto-oncogenes hot spots, however, LOH of H-ras (chromosome location 11p15.5) was found in tumor tissue from one patient and a homozygous mutation in exon 12 of gsp causing a Pro-->Ser conversion was present in the thyroid tumor tissue from another patient. Two silent polymorphisms were detected, H-ras exon1, 86T-->C and gsp exon 5, 81T-->C. CONCLUSIONS: Our results indicate that the ras/gsp mutations found are probably late events in the tumorigenesis representing general oncogenic stress. In conclusion, it seems that ras/gsp activation is not a factor in the mechanism causing sporadic thyroid carcinoma in children.

[Pyridoxine-dependent epilepsy in an infant]. / Pyridoxine-afhankelijke epilepsie bij een zuigeling.

A newborn girl with seizures was, after repeated conventional anticonvulsive treatment, cured by pyridoxine administration. Pyridoxine-dependent seizures are an uncommon disease with autosomal-recessive heredity and a variable clinical picture. The prognosis may be favourable when diagnosis is made early. Confusion with perinatal asphyxia, and initial good response to usual anticonvulsive treatment can lead to delay in diagnosis.

An infant with the scimitar syndrome and pulmonary hypertension; successful surgical intervention.

The case of an infant with the scimitar syndrome and pulmonary hypertension is presented. After surgical intervention with ligation of the abnormal arterial supply to the hypoplastic lung, the pulmonary hypertension disappeared. This was proven by cardiac catheterization after the operation. The abnormal drainage from the right lung into the inferior vena cava was not corrected. The child has had no complaints since except for recurrent pulmonary infections.