Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.

MR neurography in diagnosing nondiabetic lumbosacral radiculoplexus neuropathy.

Here we describe the imaging findings in a 73-year-old woman who had pain in the right inguinal region, followed by progressive weakness of muscles innervated by the right femoral and obturator nerves, diagnosed as nondiabetic lumbosacral radiculoplexus neuropathy. Magnetic resonance neurography showed thickening and increase in signal intensity of the right femoral and obturator nerves.

The controversial management of giant congenital melanocytic nevi. When would it be better "to wait and see"?

Aim: A giant congenital nevus is a melanocytic nevus present at birth with wide extent on the skin surface. The management of this nevus remains controversial and needs to be personalized for each patient.

Methods: A retrospective multicenter study was carried out in the Dermatological Departments of Brescia, Padua, and Pavia, Italy.

Dermatofibrosarcoma protuberans in an adolescent: a case report and review of the literature.

Classically, dermatofibrosarcoma protuberans (DFSP) is a disease of adults. The world literature revision shows that several pediatric cases have been reported so far; this might suggest that the number of infants with the condition might be larger than that estimated previously. Here, we report the 183rd case of histologically confirmed DFSP in young age.

Where SUNCT contacts TN: a case report.

Background: Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) and trigeminal neuralgia (TN) are unilateral painful conditions that can share the same triggering factors, autonomic features and the main location, as well as the cyclically recurrent crises. Both these syndromes are associated with a high percentage of findings of vascular malformation touching the trigeminal nerve, suggesting a pathophysiological relationship.

Case: In this paper, we report a new case with the main purpose to shine a light on the pathophysiology of these conditions.

Clinical spectrum and evolution of monoclonal gammopathy-associated neuropathy: an observational study.

Background: Paraproteinemic neuropathy (PPN) is often under-diagnosed because of its clinical and electrophysiological variability. Progression of neuropathy is considered an alarm bell for possible malignant conversion of underlying monoclonal gammopathy (MG).

Objective: To report clinical presentation, course, and evolution in a group of patients with PPN in order to identify findings useful for achieving the diagnosis, suspecting progression, and recognizing the underlying hematological conditions.

Association between multiple cutaneous melanoma and other primary neoplasms.

Background: The risk of a subsequent cancer is an important issue for patients with melanoma. The development of a second primary cancer in patients with a solitary melanoma has been discussed in several studies. However, to our knowledge, the incidence of second primary cancer (SPC) in patients with multiple primary melanoma (MPM) has not been thoroughly investigated.

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). Allogeneic hematopoietic stem cell transplantation (HSCT) has been proposed as a treatment for patients with MNGIE and a standardized approach to HSCT in this condition has recently been developed. We report on the transplant course, management and short-term follow-up in two MNGIE patients who underwent HSCT.

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. Riboflavin treatment ameliorates symptoms and metabolic profile in ETFDH-related MADD patients. We report on a 20-year-old boy with an 8-year history of progressive difficulty in walking, running and climbing stairs.

Tacrolimus versus cyclosporine for early steroid withdrawal after renal transplantation.

Introduction: This study compares cyclosporine (CsA) with tacrolimus (Tac) in preventing acute rejection (AR) after steroid withdrawal (SW) 5 days after renal transplantation (Tx).

Methods: The data were collected from 2 prospective sequential studies carried out from February 2002 to May 2006. Forty-nine patients received CsA, 56 patients Tac.

Interval sentinel lymph nodes: an unusual localization in patients with cutaneous melanoma.

Background. Recent studies have demonstrated that there exists a great variation in the lymphatic drainage in patients with malignant melanoma. Some patients have drainage to lymph nodes outside of conventional nodal basins.

The role of mitochondria in neurodegenerative diseases.

Mitochondria are implicated in several metabolic pathways including cell respiratory processes, apoptosis, and free radical production. Mitochondrial abnormalities have been documented in neurodegenerative diseases, including Alzheimer's, Parkinson's, and Huntington's diseases, and amyotrophic lateral sclerosis. Several studies have demonstrated that mitochondrial impairment plays an important role in the pathogenesis of this group of disorders.

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic options (peritoneal dialysis, allogeneic stem cell transplantation, enzyme replacement) makes it necessary to diagnose the disease early, which is not always achieved due to the difficulty in recognizing this disorder, especially in case of atypical presentation. We describe three MNGIE patients with atypical onset of the disease.

Limb-girdle muscular dystrophy-associated protein diseases.

Unlabelled: The limb-girdle muscular dystrophies are a genetically and clinically heterogeneous group of diseases. Most of these proteinopathies show wide inter- and intrafamilial phenotypic heterogeneity, so that limb-girdle involvement may be often considered as one of the possible clinical expressions of a determined protein defect.

Review Summary: This review reports an updated and comprehensive classification of these proteinopathies according to protein defect and transmission modality and focuses on the main associated clinical pictures.

Thin primary cutaneous melanoma in childhood and adolescence: report of 12 cases.

Approximately, 1-4% of all new melanoma cases occur in patients younger than 20 years. The clinical presentation of melanoma in the young is often challenging. We report the experience of the Melanoma Unit of University Hospital Spedali Civili of Brescia, Italy.

Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy.

Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. We describe a patient with an HUV of undetermined cause that developed a progressive multifocal sensory neuropathy whose symptoms were temporarily relieved by intravenous immunoglobulin treatment. Sural nerve biopsy showed asymmetrical multifocal nerve fiber loss and axon degeneration in nerve fascicles, a picture suggestive of ischemic damage as a likely result of a vasculitic process.

Desmoplastic melanoma: report of 5 cases.

Background. The clinical presentation of desmoplastic melanoma is often challenging. We report the experience of the Melanoma Unit of Spedali Civili University Hospital of Brescia, Italy.

Disulfiram neuropathy: two cases of distal axonopathy.

Background: Disulfiram may cause a peripheral neuropathy that is considered dose- and duration-of-exposure-related. Axonal degeneration has been described as a pathological hallmark of disulfiram toxicity, but experiments have reported a primary toxic effect of the molecule on Schwann cells and myelin.

Case Reports: Case 1: At the end of two months of treatment with disulfiram 250 mg/day, a 31-year-old woman complained of weakness in distal segments of the lower limbs associated with burning dysesthesias, numbness and pain in the soles of the feet and the legs below the knees; bilateral walking steppage, reduction in foot strength, absence of ankle jerk and knee tendon reflexes, and tactile stocking pin-pick and vibratory sensory impairment in the lower limbs below the knee.

The importance of self-examination in the earliest diagnosis of multiple primary cutaneous melanomas: a report of 47 cases.

Background: Development of more than one primary melanoma in a patient is a relatively uncommon but well-recognized phenomenon. Its frequency has ranged from 1.2% to 8.

A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement.

Bortezomib, a proteasome inhibitor used in the treatment of multiple myeloma, is known to induce an axonal, dose-dependent neuropathy clinically characterized by pain, paresthesias, burning dysesthesias and numbness. In this study, we describe a patient treated with high-dose bortezomib whose main clinical feature was severe sensory ataxia. Electrodiagnostic studies showed, other than axonal changes, myelin involvement.

Chronic urticaria associated with thyroid carcinoma: report of 4 cases.

Chronic urticaria is a common condition that can be very disabling when severe. A variety of causes has been reported to induce urticaria, including food, infections, drugs and other factors. In more than 50% of cases of chronic urticaria, however, the cause remains unknown and cannot be ascribed to allergic, physical, environmental or other factors.

Neuropathology of mitochondrial diseases.

The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. Clinical features are usually extremely heterogeneous because MD may involve several tissues with different degrees of severity. Muscle and brain are mostly affected, probably because of their high dependence on oxidative metabolism.