Breast cancer in a Hispanic patient with Werner syndrome.

Werner Syndrome is a rare autosomal recessive condition characterized by premature aging and increased risk of malignancies due to gene mutations associated with DNA stability. We present the first case report of a 29-year-old Hispanic female with WS diagnosed with breast cancer. Diagnostic mammography and ultrasound, breast MRI and PET examinations revealed two lesions biopsy proven as invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy and radical mastectomy. Recurrence occurred 10 months postoperatively with molecular analysis demonstrating TP53 mutations. The multifactorial assessment of breast cancer in this case study is crucial towards optimizing screening, diagnosis and management of this disease in patients with WS.

Evaluation of glucose tolerance and effect of dietary management on increased visceral fat in a patient with Werner syndrome.

Werner syndrome (WS), a type of progeria, is a hereditary condition caused by a mutation in the WRN gene. A 62-year-old Japanese woman was diagnosed with WS at the age of 32 and has been visiting the hospital for follow-up since the last 30 years. The patient developed diabetes at the age of 46, and at the age of 60, her body mass index increased from 20.1 to 22.7 kg/m2 owing to her unhealthy eating habits; her visceral fat area at the age of 61 was 233 cm2. With dietary control, her body weight, including the visceral fat and subcutaneous fat, decreased at the age of 62, and her insulin secretion, obesity, and fatty liver improved. We conducted the oral glucose challenge test four times, including at the prediabetic stage, to evaluate the insulin-secretion ability. The patient's insulin resistance gradually increased for more than 14 years, and her insulin secretion ability began to decrease 14 years after her diabetes diagnosis. Despite a remarkable decrease in body weight and fat mass with dietary management, the psoas muscle index did not decrease significantly in proportion to the body weight or fat mass. However, muscle mass monitoring is important for preventing the progression of sarcopenia. Hence, gradual reduction of visceral fat and weight by dietary management may be useful in treating diabetes in patients with WS, particularly in those whose visceral fat is significantly increased.

Dismenorrea por syndrome de Herlyn-Werner-Wunderich syndrome / Dismenorrea por syndrome de Herlyn-Werner-Wunderich Syndrome

El síndrome de Herlyn-Werner-Wünderlich (HWW) constituye una rara anomalía congénita mülleriana caracterizada por la aso-ciación de útero didelfo, septum vaginal y agenesia renal homolateral. Presentamos el caso de una paciente de 48 años de edadremitida por dismenorrea y que finalmente es diagnosticada de éste síndrome. Durante el examen físico se visualiza fondo de sacoen cara lateral izquierda de la vagina, lo que sería compatible con una vagina rudimentaria. La resonancia magnética confirmaeste hallazgo y muestra un útero didelfo bicollix así como agenesia renal izquierda. Debido a la edad de la paciente y a la ausenciade deseo genésico se realiza histerectomía total con doble anexectomía

Herlyn-Werner-Wünderlich syndrome (HWW) is a rare Mullerian congenital abnormality. This syndrome is characterized by the association between didelphis uterus, obstructive vaginal septum, and homolateral renal agenesis. We report the case of a 48-year old female who was diagnosed with this syndrome in the context of dysmenorrhea and pelvic pain. During physical examination, an orifice on the left lateral aspect of the vagina was visualized and it was compatible with a rudimentary vagina. Magnetic resonance confirmed this finding and showed a didelphis uterus and left renal agenesis. Due to the age of the patient and the absence of gestational desire, a total hysterectomy with double-annexectomy was performed

Werner's syndrome (adult progeria): an affected mother and son presenting with resistant psychosis.

Age-related psychotic conditions may be studied by focusing on the unique group of progeroid syndromes. This report will focus on Werner's syndrome, one of the better defined and studied progeroid syndromes. We applied clinical and histophysiological evaluations to two patients, a mother and son, suffering from Werner's syndrome. Both patients presented with resistant psychosis and evidence of impaired cellular repair mechanisms. Psychiatric morbidity in Werner's syndrome is rarely reported. This syndrome can serve as a possible model for aging-associated development of psychosis.

[Adult progeria (Werner's syndrome)]. / Adulte Progerie (Werner-Syndrom).

HISTORY: A 48-year-old man was referred with progressive claudication and nocturnal pain at rest in the right foot. During the last few years exercise-induced pain, ulcerations and necroses had developed in both legs without any evidence of relevant macroangiopathies. The patient showed marked morphological changes. He had bilateral cataracts since aged 35 years. At 40 years he had undergone a transurethral resection of a bladder carcinoma. One of his brothers showed similar morphological changes, but they were absent in his parents and three siblings. INVESTIGATIONS: Radiology of the right foot revealed extensive para-osseous soft-tissue calcifications. Direct right femoral angiography demonstrated distal occlusions of the anterior and posterior tibial arteries as well as subtotal occlusion of the fibular artery. Routine laboratory tests were normal, as were all measured antibody titres. TREATMENT AND COURSE: The peripheral vascular disease, stage IV, of the right leg were presumably caused by adult progeria (Werner's syndrome). Percutaneous transluminal angioplasty (PTAP) of the distal fibular and, later, of the posterior tibial artery was performed, and prostacyclins, antibiotics and platelet-aggregation inhibitors were administered. Although the PTAP was technically successful, the state of the right foot remained critical, due to the existing microangiopathy and the impaired proliferation and healing capacity of the tissues as part of the adult progeria. CONCLUSIONS: The diagnosis of adult progeria is usually made because of the patients' characteristic morphology and typical concomitant diseases. The average age of patients at diagnosis is 37 years. The syndrome is caused by a helicase defect. This enzyme group unwinds double-helix RNA and DNA. Because the syndrome is rare and gene analysis is complex, it is unlikely that a commercial screening test will become available.

Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family.

Four cases of acrogeria in one large family with multiple consanguineous marriages are reported. Inheritance is autosomal recessive. Evaluation of six generations of this family also showed six individuals with congenital blindness; this pedigree suggests autosomal recessive inheritance also for this disorder. Association of the two conditions was not seen in living members. The initial presentation in the patients with acrogeria was failure of growth during the first year of life, accompanied by characteristic facial appearance and cutaneous atrophy of the face and extremities. The radiologic features of these patients were acro-osteolysis, wide sutures and fontanelles, wormian bones, mandibular hypoplasia and avascular necrosis of the femoral heads. Other features were osteolysis of the clavicles, soft tissue calcification, osteoporosis and coxa valga, which have not been described in previous reported cases.

Bone and joint involvement in adults with Werner's syndrome.

A 45-year-old man with Werner's syndrome had large asymptomatic calcium deposits about the elbows, hips, and shoulders. During the four-year follow-up, he developed insufficiency fractures of the pelvis, both ulnas, one radius and one metatarsal, all of which failed to heal. Bone mineral densities evaluated by dual-energy X-ray absorptiometry were at the lower end of the normal range, but a histomorphometric study showed a reduction in trabecular bone volume and marked decreases in osteoid parameters with a calcification rate of zero. Serum assays of 25 hydroxy vitamin D3, 1,25 dihydroxy vitamin D3, osteocalcin and alkaline phosphatase were normal. The nonunions in this patient may have been caused by impaired osteoblast function associated with Werner's syndrome and/or by decreased activity of growth factors involved in bone repair.

[A female patient with Werner's syndrome]. / Een patiënte met het syndroom van Werner.

We describe a 42-year old female with Werner's syndrome, an autosomal recessive connective tissue disorder, characterised, in her case, by juvenile cataract, chronic ulcers on the feet, characteristic skin changes, a typical appearance of the face ('bird-like face'), severe deformities of the feet, generalised osteoporosis, soft tissue calcifications and a high pitched hoarse voice. Werner's syndrome has to be distinguished from systemic sclerosis in particular. No causal therapy is available.

[X-ray findings in adult progeria (Werner's syndrome)]. / Röntgenbefunde bei der Progeria adultorum (Werner-Syndrom).

A patient with Werner's syndrome is presented. The authors describe the clinical picture and x-ray findings in this type of premature aging. The main radiological differentials are discussed.

Osteosclerosis of the phalanges in Werner syndrome.

Werner syndrome is an autosomal-recessive disease characterized by premature aging, shortness of stature, scleroderma-like skin changes, endocrine abnormalities, and cataracts. Although radiographic findings have been well documented, the presence of distinctive osteosclerotic changes in the phalanges of the hands and feet has not been emphasized in previous publications. The authors' review of radiographs of both hands in nine patients and of both feet in six patients with Werner syndrome documented the frequent occurrence of phalangeal sclerosis related predominantly to endosteal thickening. In the hand, sclerosis was present in every patient, was generally symmetric in distribution, predominated in the distal phalanges, and demonstrated an ulnar predilection. Similar changes in the phalanges of the feet were demonstrated in only two patients. The presence of osteosclerosis in the phalanges of the hand alone or both the hand and foot, when combined with osteoporosis and periarticular calcification, suggests the diagnosis of Werner syndrome.

A case of a delusional psychotic syndrome in the setting of Werner's syndrome (adult progeria).

The literature on Werner's syndrome is scarce, and to our knowledge, no documented evidence is available to substantiate central nervous system involvement in this multisystem disease. We present a case of Werner's syndrome associated with recurrent delusional psychosis in the presence of cognitive impairment and computerised tomography (CT) radiological changes in the posterior cerebral cortex.

[Werner's syndrome. Clinical and radiologic manifestations. Apropos of 2 new cases]. / Síndrome de Werner. Manifestaciones clínico radiológicas. A propósito de dos nuevos casos.

In this work we present two cases of Werner's Syndrome. Its typical manifestations, the clinical and radiological aspects and diagnostic criteria are mainly commented.