Case Report of Rare Parathyroid Tumor with Atypical Presentation and Early Diagnosis

Parathyroid carcinoma is a rare condition, accounting for 1% of cases of hyperparathyroidism. Other causes of hyperparathyroidism main group are single adenoma and parathyroid hyperplasia. The clinics presented by the patients are typical of hyperparathyroidism (fatigue, weakness, weight loss, and anorexia), bone impairment, pain, and fractures, in addition to affecting the renal system The diagnosis of parathyroid carcinoma is most often done postoperatively by means of a histological study. The case report is a 49-year-old male patient who came to the emergency room of Mackenzie Evangelical University Hospital complaining of progressive “muscle weakness” and “joint” that started about 2 months ago. To raise the suspicion of parathyroid carcinoma, it is essential to perform the correlation of the clinical picture, biochemical values, and imaging exams, but to obtain the definitive diagnosis, intraoperative recognition of the tumor and the result of the histopathological examination of the resected tumor are necessary.

Paraneoplastic dermatomyositis revealing undifferentiated nasopharyngeal carcinoma at early stage: a case report

Context Dermatomyositis is a rare autoimmune disease characterized by noninfectious inflammatory damage of skin and predominant muscles in the belts. It is believed to be associated with about 1 in 1000 cases of nasopharyngeal carcinoma. This association has been described for locally advanced stages II and III nasopharyngeal carcinoma. It has rarely been described in the early stages (stage I). Case presentation A 65-year-old Moroccan patient residing in Casablanca, with no particular history was referred to the Mohamed VI Center for the treatment of cancers of the University Hospital Center IBN ROCHD in Casablanca, for treatment of nasopharyngeal cancer. He was admitted in poor general condition, performance status 3, with erythema on the face, neck, and extremities. The diagnosis of paraneoplastic dermatomyositis was made owing to progressive muscle weakness and elevation of muscle enzymes associated with the typical rash of the face and hands. He received corticosteroid therapy and then radiotherapy to the nasopharynx with good clinical outcome, disappearance of skin lesions, and recovery of muscle strength. Conclusions We report this case of dermatomyositis in early-stage nasopharyngeal carcinoma, which is a rarely described entity. Rapid treatment of dermatomyositis improved the patient’s quality of life and enabled him to support specific cancer treatments. This can be used as an element of early diagnosis and monitoring after treatment.

New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case)

Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscular dystrophy have been described. The clinical case of a rare form of congenital muscular dystrophia associated with a homozygous mutation in the TRIP4 gene in a patient with respiratory failure requiring respiratory support, neurological symptoms, muscular hypotonia, and multiple congenital malformations of skeletal system is presented for the first time in Russia. The undescribed pathogenic homozygous variant of the nucleotide sequence in the TRIP4 gene (chr15:64686179, c.136C>T, p.Arg46Ter, 2 exon, NM_016213.4) was detected by whole exome sequencing. The mutation in the TRIP4 gene was validated by Sanger sequencing in a child and its origin was investigated. The mother and father of the girl are carriers of the heterozygous variant in the TRIP4 gene. Identification of the genetic cause of a rare form of neuromuscular disease is important for determining the tactics of patient management and medical and genetic counseling of the family, as well as clarifying the pathogenesis of a rare pathology.

Opportunities of MRI in the early diagnosis of the progression of muscular dystrophies

Progressive muscular dystrophies are a genetically heterogeneous group of disorders characterized by progressive muscle weakness, muscle atrophy, and movement disorders. This is a rare group of pathologies that presents a diagnostic problem in the practice of a neurologist. The combination of clinical, radiological, and laboratory methods of examination plays an important role in making the correct diagnosis. Magnetic resonance imaging of muscles is used to diagnose primary muscle damage based on specific patterns of muscle damage. In this article, we will briefly discuss the opportunities of early diagnosis of muscular dystrophies and note the role of MRI of muscles as a highly informative diagnostic method in progressive muscle diseases.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD is one of four conditions known as dystrophinopathies. DMD symptom onset is in early childhood, usually between ages 2 and 3. The daughters each have a 50% chance of being carriers. Very rarely, a female can be affected by the disease. Duchenne muscular dystrophy occurs in about 1 out of every 3600 male infants. The disease primarily affects boys, but in rare cases it can affect girls. Duchenne muscular dystrophy is a form of muscular dystrophy. The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups. No cure for DMD is known, and an ongoing medical need has been recognized by regulatory authorities. Gene therapy has shown some success. Complications includes osteoporosis, nutritional problems, cardiac complication such as cardiomyopathy, chest and breathing complication. This condition can be improved when detected as early as possible.

A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

Background Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies, which are subdivided into demyelinating and axonal forms. Biallelic mutations in POLR3B are the well-established cause of hypomyelinating leukodystrophy, which is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. To date, only one study has reported the demyelinating peripheral neuropathy phenotype caused by heterozygous POLR3B variants. Case presentation A 19-year-old male patient was referred to our hospital for progressive muscle weakness of the lower extremities. Physical examination showed muscle atrophy, sensory loss and deformities of the extremities. Nerve conduction studies and electromyography tests revealed sensorimotor demyelinating polyneuropathy with secondary axonal loss. Trio whole-exome sequencing revealed a de novo variant in POLR3B (c.3137G > A). Conclusions In this study, we report the case of a Chinese patient with a de novo variant in POLR3B (c.3137G > A), who manifested demyelinating CMT phenotype without additional neurological or extra-neurological involvement. This work is the second report on POLR3B-related CMT.

A case of thymoma-associated multiorgan autoimmunity including polymyositis and myocarditis

Background Polymyositis and myocarditis associated with thymoma are exceptionally rare conditions and usually accompanied by myasthenia gravis (MG) and have been recognized as critical conditions. Thymoma-associated multiorgan autoimmunity was reported recently with skin, liver, and intestinal manifestations similar to those seen in graft-versus-host disease. Case presentation A 77-year-old female presented to our department with exacerbation of ptosis and local recurrence of thymoma. Chest computed tomography revealed local recurrence of thymoma. Following 6 month observation, erythema on the extremities and body trunk suddenly appeared. Afterwards, the patient developed progressive muscle weakness and fatigue. We diagnosed as myocarditis and polymyositis. She was transferred to the intensive-care unit and received artificial ventilation. Steroid pulse therapy was induced immediately. The blood test findings were markedly improved, but the symptoms of MG and weakness of the muscles persisted. Various treatment including eculizumab was induced, and the symptoms of MG and weakness of the muscles were improved. On the 136th day of hospitalization, she was discharged. Conclusion We were able to cure this patient, as we were able to start treatment immediately after the appearance of severe symptoms. An early diagnosis and treatment are important for curing such patients.

Resolution of Paraneoplastic Lumbosacral Plexopathy in a Patient With Stage III Rectal Cancer after Curative Resection

Paraneoplastic syndromes are rare but possible manifestations of colorectal cancer. We present THE CASE of a 51-year-old female diagnosed with cT3N2 rectal adenocarcinoma who developed back pain and progressive muscle weakness during preoperative treatment. She had a rapid worsening in mobility and was ultimately ambulating with a wheelchair, despite physical therapy and conservative treatments. Extensive laboratory workup including onconeural antibodies was negative and her lower extremity electromyogram was suggestive of a subacute demyelinating lumbosacral plexopathy. After multidisciplinary discussion, the decision was made to proceed with curative resection. She had significant improvement in her weakness following resection, suggesting a paraneoplastic etiology. One year after resection, she remains free of disease and is ambulating comfortably. Onconeural antibodies can be a helpful diagnostic tool, but their absence does not rule out paraneoplastic disease. A high index of suspicion is necessary when assessing patients with atypical symptoms, particularly with the rise of colorectal cancer in young adults.

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation

Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. Using exome sequencing, we identified recessively-acting germline alleles p.Arg180Gly and p.Gly183Arg which are both situated in the FYVE domain of RBSN. We find that these variants abrogate binding to its cognate substrate PI3P and thus prevent its translocation to early endosomes. Although the endosomal recycling pathway was unaltered, mutant p.Gly183Arg patient fibroblasts exhibit accumulation of cargo tagged for lysosomal degradation. Our results suggest that these variants are separation-of-function alleles, which cause a delay in endosomal maturation without affecting cargo recycling. We conclude that distinct germline mutations in RBSN cause non-overlapping phenotypes with specific and discrete endolysosomal cellular defects.

Progressive muscle weakness and amyotrophy during pregnancy as the first manifestation of systemic lupus erythematosus: A case report and review of literature

Background: Systemic lupus erythematosus is a common autoimmune disease involving multiple systems. Clinical involvement of the central and peripheral nervous systems is not unusual, but peripheral neuropathy in systemic lupus erythematosus with chronic inflammatory demyelinating polyneuropathy is uncommon. Our study aimed to illustrate the clinical features, diagnosis, and treatment of systemic lupus erythematosus combined with chronic inflammatory demyelinating polyneuropathy, and to aid in the identification of peripheral neuropathy in systemic lupus erythematosus. Methods: This article reports a case of systemic lupus erythematosus with onset in pregnancy, with chronic inflammatory demyelinating polyneuropathy as the first manifestation. We then analyze the identification of common peripheral neuropathy in systemic lupus erythematosus in detail, based on a literature review of confirmed cases of systemic lupus erythematosus combined with chronic inflammatory demyelinating polyneuropathy. Results: A 34-year-old woman presented progressive muscle weakness and muscular atrophy in the extremities during pregnancy, 3 years previously. At 4 months after onset, she had completely lost the ability to hold objects and walk, and had slight numbness in the limbs, without paresthesia. Her condition was misdiagnosed as “motor neuron disease” at the time. Three years after onset, her condition was revisited because of nephrotic syndrome, and she was diagnosed with nephrotic syndrome and peripheral nerve injury caused by systemic lupus erythematosus. After immunosuppressive treatment with corticosteroids and intravenous cyclophosphamide, her symptoms of muscle weakness were markedly improved. This article summarizes the characteristics of systemic lupus erythematosus combined with chronic inflammatory demyelinating polyneuropathy that have been reported in the literature, from the aspects of morbidity, disease progression, nerve injury, laboratory examinations, and treatment response. Conclusions: Our identification of a common peripheral neuropathy in systemic lupus erythematosus will help to improve clinicians’ understanding of various peripheral neuropathies in systemic lupus erythematosus. It will also aid in the early diagnosis and treatment of such patients, thus improving their long-term prognosis.