Hepatoblastoma in a 4-year-old girl with Fanconi anaemia

CASE REPORT: Hepatoblastoma was diagnosed in a 4-year-old girl receiving growth hormone substitution therapy for short stature. Owing to multiple congenital malformations, VACTERL-H (vertebral, anal, cardiac, tracheal, renal and limb anomalies with hydrocephalus) association had been suggested. Elevated chromosomal breakage rates and G2 phase arrest induced by DNA-crosslinking agents in cellular assays confirmed the diagnosis of Fanconi anaemia (FA), a tumour susceptibility syndrome known to be associated with hepatocellular carcinoma following androgen therapy. Subsequent genotyping revealed biallelic mutations in the FANCD1/BRCA2 gene. CONCLUSION: We describe the first case of hepatoblastoma in a patient with FA to raise awareness of this tumour type in the close clinical observation of early cancer-prone forms of this condition, particularly in the presence of FANCD1/BRCA2 mutations. The present case also underscores the importance of FA testing in patients with VACTERL(-H).     

Aquatic leech infestation: a rare cause of severe anaemia in an adolescent Tanzanian girl

We report on a 15-year-old girl who presented with a history of chest pain, coughing, intermittent haemoptysis, fever, pallor and vomiting to a rural hospital in Tanzania. She was severely anaemic with signs of cardiorespiratory distress. Haemoglobin was 4.8 g/dl; the chest X-ray film was normal. She required one unit of blood. After 3 days, she vomited up a small parasite which proved to be an aquatic leech. Oesophagogastroscopy, then performed, revealed four small mucosal lesions in the pharynx and upper oesophagus. No other leeches were seen. Further oesophagogastroscopy 4 days later showed a normal mucosa. The girl was discharged on iron and folic acid supplements. A small lake near her village was identified as the likely source of her infestation. The family had used the water for drinking without any precautions—Terrestrial leeches can cause profound, life-threatening anaemia, but even more so do aquatic leeches. This type is acquired while bathing or drinking unfiltered water. They attach themselves to mucous membranes, having been described in sites like conjunctiva, nose, pharynx/larynx, trachea/bronchi, oesophagus, vagina, and rectum. Especially in the airways, they can cause even fatal bleeding or obstruction. Treatment consists of removal of the leech. Conclusion: in developing countries, even unusual causes like leech infestation have to be considered in the differential diagnosis of severe anaemia in children.     

Genital tuberculosis in a 14-year-old girl

The authors report the case of a 14 year-old girl presenting with pulmonary, adrenal and genital tuberculosis. Pelvic pain was the presenting symptom. Association of familial contamination, phlyctenular Mantoux test, apex infiltrate with a calcified nodule on chest x-ray film and numerous pelvic calcifications on plain films of the abdomen led to diagnosis. The authors emphasize the importance of the supervision of Mantoux test and the necessity of treatment of any latent primary tuberculosis.     

Toxic shock syndrome in a 14-year-old girl

The toxic shock syndrome in a 14-year old girl is described. This syndrome occurs most frequently - but not exclusively - in the teens and young women during the first days of menstruation, if tampons are used. The patients are acutely ill with high fever, diarrhea and/or vomiting, with a rash, with loss of consciousness, and signs of shock (occasionally shock lung syndrome and renal insufficiency). During convalescence desquamation of hands and feet shows up. Patients with much less severe symptoms have been seen. The primary lesion is a local infection (e.g. vaginitis) with staphylococcus aureus, the symptoms being caused by staphylococcal toxins. Early recognition and immediate therapy are important for a better prognosis. The therapy consists of removal of the tampon, i.v. fluids including albumin, and the administration of a beta-lactamase-resistant antibiotic.     

Uterine leiomyoma in a 14-year-old girl.

Uterine leiomyomas are common benign tumors of the uterus in adult females but are rare in adolescents. This is a review of the literature and a case report of a 14-year-old female who presented with increasing, intermittent back pain and abdominal distention due to a large uterine leiomyoma treated by myomectomy. This is the 9th reported case of a uterine leiomyoma in an adolescent female under the age of 18 years in the English literature.     

Primary perireticulin amyloidosis in a 14-year-old girl

A primary perireticulin amyloidosis is reported in a 14-year-old girl, which showed the symptoms of a steroid-resistant nephrotic syndrome. The diagnosis was established by biopsies of kidney and rectum. Occurrence of amyloidosis in childhood and the clinical picture are discussed and references to clinical trials carried out are given.