Surgical repositioning of the contralateral testicle before irradiation of a paratesticular rhabdomyosarcoma for preservation of hormone production.

Little has been published so far about the possibility of preserving an uninvolved testicle by surgically transferring it out of the irradiation field. A then 16-year-old boy developed a right paratesticular embryonal rhabdomyosarcoma in 2003. Initial treatment consisted of orchiectomy and chemotherapy. Prior to local radiotherapy, the contralateral testicle was surgically transferred into the left groin region. Hyperfractionated, accelerated radiation therapy was administered to a total dose of 44.0 Gy. After radiotherapy, the testicle was returned. The patient's testosterone levels are still normal. No clinical abnormalities or signs of tumor had been observed as of June 2006.

Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

BACKGROUND AND OBJECTIVES: Congenital erythrocytoses or polycythemias are rare and heterogeneous. A homozygous mutation (C598T->Arg200Trp) in the von Hippel-Lindau (VHL) gene was originally identified as the cause of the endemic Chuvash polycythemia. Subsequently this and other mutations in the VHL gene were also detected in several patients of different ethnic origin. Haplotype analyses of the VHL gene suggested a common origin for the Chuvash-type mutation. DESIGN AND METHODS: Thirty-four patients with presumable congenital erythrocytosis due to an unknown underlying disorder were examined for VHL gene mutations and VHL region haplotypes. RESULTS: Four patients were homozygous and one patient heterozygous for the Chuvash-type mutation. One additional patient presented a previously not described heterozygous mutation G311->T VHL in exon 1. The haplotype analyses were in agreement with recently published data for three of the four patients with homozygous mutations as well as for the patient with a heterozygous Chuvash-type mutation. One patient of Turkish origin with homozygous Chuvash-type mutation had a haplotype not previously found in individuals with Chuvash-type mutation. INTERPRETATION AND CONCLUSIONS: These results confirm that mutations in the VHL gene are responsible for a substantial proportion of patients with congenital erythrocytoses. Erythrocytoses due to a C598->T mutation of the VHL gene are not geographically restricted. The majority of patients with Chuvash polycythemia share a common VHL gene haplotype. The different haplotype in one of the patients with Chuvash-type mutation indicates that this mutation was not spread only from a single founder but developed independently in other individuals.

Pamidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinoma and acromegaly in McCune-Albright syndrome: a case report.

INTRODUCTION: McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the facial skull, numerous café-au-lait spots and autonomous hyperfunctions of several endocrine systems, leading to hyperthyroidism, hypercortisolism, precocious puberty and acromegaly. CASE PRESENTATION: Here, we describe a 12-year-old Caucasian girl with severe facial involvement of fibrous dysplasia, along with massive acromegaly due to growth hormone excess and precocious puberty, with a prolactinoma. Our patient was treated with a bisphosphonate and the prolactin antagonist, cabergoline, resulting in the inhibition of fibrous dysplasia and involution of both the prolactinoma and growth hormone excess. During a follow-up of more than two years, no severe side effects were noted. CONCLUSION: Treatment with bisphosphonates in combination with cabergoline is a suitable option in patients with McCune-Albright syndrome, especially in order to circumvent surgical interventions in patients suffering from polyostotic fibrous dysplasia involving the skull base.

Long-time octreotide in an adolescent with severe haemorrhagic gastrointestinal vascular malformation.

Gastrointestinal vascular malformations are a rare cause of acute or chronic blood loss. Usually they are treated by endoscopic obliteration or surgical resection. When such a therapy is inapplicable, pharmacotherapy may be required. At the age of 15 years, our female patient suffered from transfusion dependent recurrent gastrointestinal haemorrhage due to multiple gastrointestinal vascular malformations. Gastroscopy, coloscopy and capsule endoscopy revealed numerous foci making both endoscopic obliteration and complete surgical resection impossible. Neither regular transfusions nor substitution with coagulation factors were helpful. However, subcutaneous octreotide resulted in immediate stop of bleeding. Initial treatment by daily subcutaneous injections was followed by monthly depot application. Over 3 years only 2 transfusions had to be given. The patient required thyroxin substitution, otherwise, no side effects occurred and the girl had a good quality of life. The authors conclude that octreotide is safe and effective in gastrointestinal angiodysplasias inaccessible to endoscopy or surgery.

Hereditary hemochromatosis of a young girl: detection of early iron deposition in liver cell lysosomes using transmission electron microscopy and electron energy loss spectroscopy.

A 14-year-old girl demonstrated increased iron concentration and transferrin saturation, suggesting iron overload of unknown origin. Liver biopsy showed no fibrosis or hepatocytic atrophia. Nevertheless, Prussian blue reaction for histochemical detection of iron demonstrated very weak positive granules in a few hepatocytes on the periphery of hepatic lobules in close connection to bile capillaries. This very early stage of hemochromatosis was confirmed by TEM and EELS for iron accumulation inside hepatocytic lysosomes and residual bodies. Such siderosomes were scarce in number and iron content, compared to a case of manifested hemochromatosis and liver cirrhosis (Jonas L, Fulda G, Salemeh T, et al. Ultrastruct Pathol. 2001; 25: 111-118.). Liver iron concentration as measured by inductively coupled plasma-mass spectrometry (ICP-MS) and atomic absorption spectrometry (AAS) yielded 2.005 mg/g tissue dry weight, which was considered not significantly increased. In the absence of known causes for secondary iron overload, the early diagnosis was evidenced by genotyping, revealed homozygosity for the HFE gene C282Y mutation, demonstrating the presence of hereditary hemochromatosis.