Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.

BACKGROUND AND PURPOSE: Systematic research on the effect of Charcot-Marie-Tooth (CMT) disease on the outcome of pregnancy and conversely the effect of pregnancy on neuropathy is still sparse. METHODS: A clinical cohort study and cross-sectional study within the German CMT-NET was conducted between 2016 and 2019. Inclusion criteria were a confirmed diagnosis of CMT and at least one completed pregnancy after 1990. All participants agreed to fill in questionnaires and have their medical files reviewed. RESULTS: The study group comprised 54 women with a total of 98 pregnancies. The mean age at onset of CMT disease was 12.6 years (range 0-37 years). Fifty (92%) patients had autosomal dominant CMT; two patients each (4%) had X-linked and autosomal recessive CMT. Forty patients (74%) had a PMP22 gene duplication (CMT1A). Obstetric complications did not differ significantly from a German reference population, neither in the whole group nor in the CMT1A group. Overall there was no increased newborn morbidity and mortality. About one-third of patients reported exacerbation of CMT disease in or after pregnancy. No adverse effects of anaesthesia were reported. Most participants stressed a positive attitude and awareness of challenges associated with pregnancy. Important issues were assistance and support in caring for the family. DISCUSSION: In line with findings from our previous study undertaken in the 1990s, there were no increased complication rates for pregnancy and delivery. These results are reassuring for the vast majority of CMT patients and are important for family planning and clinical care.

Case report: radiotherapy--an effective treatment for vaginal verrucous carcinoma.

Vaginal carcinoma makes up 1%-2% of all gynaecological tumours. Verrucous carcinoma of the vagina is even more rare--only 16 cases are reported in the scientific literature. A case of a complete regression after 60 Gy fractionated radiotherapy by a tumour 12 cm3 in size is reported. Most authors are of the opinion that radiotherapy causes anaplastic transformation of verrucous carcinoma. The minority view, that anaplastic transformation does not occur, is correct and is supported by our clinical and radiological data. The conflicting literature on vaginal verrucous carcinoma (VVC) is reviewed with reference to verrucous carcinoma at other sites.

Paraneoplastic paralysis in a patient with malignant fibrous histiocytoma.

A patient presented with lower limb paralysis and a large malignant fibrous histiocytoma (MFH) on her back. Metastatic disease to the spine was excluded and the diagnosis of paraneoplastic paralysis was made. This may be the first described case of a neuromyopathic paraneoplastic syndrome in malignant fibrous histiocytoma. Tissue culture and electron microscopy assisted in establishing the diagnosis of the tumour. A hitherto unrecognised endocrine factor may account for the hypokalaemia which was a feature in this patient.

Management of uterine Müllerian adenosarcoma with extrauterine metastatic deposits.

OBJECTIVE: The aim of this study was to provide the management and outcome of three patients who presented with uterine Müllerian adenosarcoma associated with extrauterine metastases. METHODS: A retrospective study of three patients who were referred to our hospital was performed. One patient was referred because of vaginal metastatic deposits that were noted during investigations for primary infertility. The other two were referred because of abnormal vaginal bleeding; one of these had a large polyp protruding through her cervix into the vagina. RESULTS: In two patients the preoperative diagnosis and extent of their disease were known while in the third patient the diagnosis was only made postoperatively. All patients had a type II radical abdominal hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. Two patients were given three cycles of neoadjuvant chemotherapy and pelvic irradiation over 12 weeks. Both of these patients had their diagnosis made preoperatively and the chemotherapy consisted of 240 mg/m(2) carboplatin and 80 mg/m(2) farmorubicin per cycle. The pelvic irradiation consisted of daily fractions of 1.8-Gy irradiation to a total of 45 Gy over the first 6 weeks. The other patient was given the same regime postoperatively. All patients are still alive and free of disease between 34 and 56 months. CONCLUSION: Radical surgery, chemotherapy, and irradiation provide a management option with seemingly favorable outcome for patients with uterine Müllerian adenosarcoma associated with extrauterine metastases.