An Unusual Case of Bilateral Adrenal Hyperplasia

Abstract Background: Thrombocytopenia, anasarca, fever, reticulin fibrosis/renal failure, and organomegaly (TAFRO) syndrome is a variant of Castleman Disease, which is a rare lymphoproliferative disease that can be life threatening. Diagnosis is often delayed because of its nonspecific presentation. Bilateral adrenal hyperplasia has been a reported complication, however the majority of cases reported have been in Asian patients. Prior accounts of elevated ACTH in TAFRO have been in the context of adrenal insufficiency. Clinical Case: A 28-year-old Caucasian male with a history of multiple sclerosis was seen in the ED with abdominal pain. On presentation, he was afebrile and normotensive. Physical exam was notable for cervical lymphadenopathy and abdominal tenderness. There was no facial rounding/plethora, bruising, abnormal striae, or proximal muscle weakness. He had normal blood counts, serum chemistry and liver function. An abdominal CT scan showed marked bilateral adrenal hyperplasia with pre-aortic, peri-aortic and retroperitoneal lymphadenopathy. An 8AM serum cortisol was 14.1 mcg/dl (4.8–19.6 mcg/dl) and adrenocorticotrophic hormone (ACTH) was elevated at 152 pg/ml (7.2–63 pg/ml). A repeat serum 8AM cortisol following low dose dexamethasone suppression test (LDDST) was 14.7 mcg/dl, however at that point the patient had developed new fevers and thrombocytopenia. Blood pressure, blood glucose and potassium remained normal. An MRI of the brain showed a normal appearing pituitary gland. An extensive infectious and rheumatologic evaluation was negative, and he underwent an inguinal lymph node biopsy which showed nodal expansion with histiocytes, consistent with TAFRO. High dose methylprednisolone and Siltuximab (an IL-6 inhibitor) were started, and his fever and abdominal pain resolved. He was discharged home on oral prednisone. Conclusion: We describe a case of bilateral adrenal hyperplasia with elevated ACTH and non-suppressed cortisol on LDDST suggestive of ACTH-driven cortisol excess. However, interpretation of his LDDST is made difficult in the context of persistent fevers. Although we cannot definitively exclude pathologic hypercortisolism at this time, given his lack of suggestive features such as proximal muscle weakness, abnormal striae or hypokalemic alkalosis, his over-all presentation was more consistent with hyperplasia secondary to TAFRO rather than an underlying pathologic hypercortisolism. Adrenal hyperplasia has been noted in TAFRO, however its pathogenesis remains poorly understood. TAFRO should be added among the differentials for bilateral adrenal hyperplasia to facilitate early diagnosis and treatment. References: Ducoux G, et al. Thrombocytopenia, Anasarca, Fever, Reticulin Fibrosis/Renal Failure, and Organomegaly (TAFRO) Syndrome with Bilateral Adrenal Hemorrhage in Two Caucasian Patients. Am J Case Rep. 2020;21:e919536.

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Chronic Renal Failure Presenting as Proximal Muscle Weakness in a Child

Journal of Child Neurology ◽

10.1177/088307388600100108 ◽

1986 ◽

Vol 1 (1) ◽

pp. 50-52 ◽

Cited By ~ 6

Author(s):

Jeanne S. Berretta ◽

C. Tate Holbrook ◽

Jerome S. Haller

Keyword(s):

Renal Failure ◽

Chronic Renal Failure ◽

Muscle Weakness ◽

Proximal Muscle Weakness ◽

Proximal Muscle

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Unusual organ involvement in sarcoidosis: sarcoid myopathy and peritoneal sarcoidosis

BMJ Case Reports ◽

10.1136/bcr-2021-244134 ◽

2021 ◽

Vol 14 (7) ◽

pp. e244134

Author(s):

Masaki Itagane ◽

Mitsuyo Kinjo

Keyword(s):

Abdominal Pain ◽

Rheumatoid Factor ◽

Muscle Weakness ◽

Peritoneal Dissemination ◽

Pulmonary Involvement ◽

Proximal Muscle Weakness ◽

Proximal Muscle ◽

Positive Rheumatoid Factor ◽

Caseating Granuloma ◽

History Of

Myopathy and peritoneal involvement are rare complications of sarcoidosis, and the latter can mimic malignancy with peritoneal dissemination. In this case, a patient with a history of polyarthritis and positive rheumatoid factor presented with proximal muscle weakness and abdominal pain. Biopsies of muscle and peritoneum revealed non-caseating granuloma suggesting sarcoidosis. Ocular and pulmonary involvement later developed and confirmed the diagnosis of sarcoidosis.

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Successful Autologous Peripheral Blood Stem Cell Transplantation In Severe Refractory Dermatomyositis

Blood ◽

10.1182/blood.v118.21.4507.4507 ◽

2011 ◽

Vol 118 (21) ◽

pp. 4507-4507

Author(s):

Francesca Saltarelli ◽

Raffaele D’Amelio ◽

Raffaele Porrini ◽

Giovanni Antonini ◽

Antonella Ferrari ◽

...

Keyword(s):

Stem Cell ◽

Stem Cell Transplantation ◽

Cell Transplantation ◽

Muscle Weakness ◽

Peripheral Blood ◽

Peripheral Blood Stem Cell ◽

High Dose ◽

Proximal Muscle Weakness ◽

Proximal Muscle ◽

Blood Stem Cell Transplantation

Abstract Abstract 4507 Background. Inflammatory myopathies are primary diseases of the striated muscles caused by an underlying autoimmune dysfunction. Dermatomyositis and polymyositis are the most common diseases of the striated muscle, skin and surrounding connective tissue. Usually the presentation includes proximal muscle weakness, inflammatory changes, creatine kinase elevation and skin rash. Although the cause of polymyositis/dermatomyositis is unknown, an autoimmune pathogenesis is strongly implicated and this provides the rationale for using immunosuppressant treatment. In the presteroid era prognosis was very poor, currently the mainstay treatment is based on high dose prednisone followed by different immunosuppressant and immunomodulating drugs as second and third line treatment for non responder patients. Autologous haemopoietic stem cell transplantation (HSCT) has been successfully employed in autoimmune diseases becoming a curative option for conditions with very poor prognosis, such as severe forms of systemic sclerosis, multiple sclerosis, and systemic lupus erythematosus. To our knowledge, 14 patients with polymyositis have been successfully treated with autologous bone marrow transplantation. The goal of PBSCT in polymyositis is to achieve remission of the systemic manifestations. Thus, we describe a case of dermatomyositis treated with high-dose chemotherapy and autologous peripheral blood stem cell transplantation (PBSCT), after a long history of conventional immunosuppressive therapy without advantage. Aims and methods: In our centre, member of the Rome Transplant Network, we observed a 60-year old man with seronegative dermatomyositis, which began in 1996 with symmetric proximal muscle weakness. Dermatomyositis was diagnosed according to Bohan and Peter criteria with a 5/5 score. Despite the administration of five lines of different immunosuppressive treatments between 1996 and 2010, disease progressed with pharingo-laryngeal involvement causing dysphagia and aphonia and EMG evidence of severe myopathic changes. HSCs were successfully mobilized with cyclophosphamide 2 g and G-CSF 5 mg/kg/day. Time from diagnosis to transplantation was 15 years. Tiothepa 70 mg on day -5 and cyclophosphamide 3.5 g on day -3 and -2 were administered intravenously as conditioning regimen followed on day 0 by reinjection of the cells collected by leukapheresis. The number of CD34+ cells infused was 2.9 × 106 /Kg. All the procedures for PBSCT were well tolerated and the post-transplantation period was uneventful, except for an episode of neutropenic fever without bacteriological documentation that resolved under broad-spectrum antibiotics. Results. After the PBSCT, we observed slow but progressive improvement in neurological symptoms and performance status. Currently, three months after transplantation, the patient is able to perform daily activities autonomously. Conclusions. Our case confirms the usefulness and safety of PBSCT in dermatomyositis. We are not able to tell which role high dosage of CSF have played in the clinical response. However our case reinforces the idea that PBSCT should be considered in the treatment of severe forms of dermatomyositis, even early during the disease course in order to reach the best response. Disclosures: No relevant conflicts of interest to declare.

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030 A rapidly progressive dermatomyositis with fatality – lessons to learn

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2018-anzan.29 ◽

2018 ◽

Vol 89 (6) ◽

pp. A13.1-A13

Author(s):

Fariha Islam ◽

Abhishek Malhotra ◽

Anish Sachdev

Keyword(s):

Muscle Weakness ◽

Positive Family History ◽

Muscle Disease ◽

High Dose ◽

Proximal Muscle Weakness ◽

Proximal Muscle ◽

Course Of Disease ◽

Underlying Malignancy ◽

Life Threatening ◽

History Of

IntroductionWe report a case of dermatomyositis in a 43 year old male who presented with transient mild proximal muscle weakness but died from rapidly progressive pulmonary disease within 3 months of diagnosis.CaseThe patient presented with proximal muscle weakness, arthralgia and classic dermatomyositis rashes. He had a history of Huntington’s disease mutation with a positive family history. He had raised creatine kinase (CK) and electromyography showed myopathic changes. The diagnosis was confirmed by skin and muscle biopsy and positive anti-myositis antibodies; PM-Scl(75), MDA5 and SRP. Screening for underlying malignancy was negative but a CT chest scan showed bilateral areas of reverse halo-opacity suggestive of interstitial lung disease (ILD) although he had no respiratory symptoms at the time. He had input from dermatology, rheumatology and respiratory teams and commenced on prednisone 1 mg/kg with pneumocystis prophylaxis. He underwent bronchoscopy and broncho-alveolar lavage that did not isolate any organisms and cell differential was normal. His muscle weakness had resolved even prior to starting steroids and his CK normalised on high dose prednisolone but he developed progressive shortness of breath that led to a second admission within two months. Repeat CT chest showed extensive bilateral infiltrative disease and pneumo-mediastinum. No infective cause was found. He deteriorated rapidly despite intubation, broad-spectrum antibiotics, steroids and extracorporeal membrane oxygenation. He died whilst being considered for lung transplantation.ConclusionThis case provides valuable lessons. Even in cases of mild muscle disease, the extra-muscular involvement can be severe and life threatening in dermatomyositis. Anti-myositis antibodies can be helpful in predicting the course of disease including extra-muscular involvement. The anti-MDA5 antibodies are associated with amyopathic dermatomyositis associated with a rapidly progressive ILD and often with pneumo-mediastinum and has a poor prognosis as in our case. One should consider more aggressive therapy for these patients from the outset.

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ANCA-associated vasculitis and severe proximal muscle weakness

Baylor University Medical Center Proceedings ◽

10.1080/08998280.2020.1871177 ◽

2021 ◽

pp. 1-3

Author(s):

Jordan S. Dutcher ◽

Albert Bui ◽

Tochukwu A. Ibe ◽

Goyal Umadat ◽

Eugene P. Harper ◽

...

Keyword(s):

Muscle Weakness ◽

Proximal Muscle Weakness ◽

Proximal Muscle ◽

Anca Associated Vasculitis

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Juvenile dermatomyositis: a case of delayed recognition with unusual complication of nephrocalcinosis

BMJ Case Reports ◽

10.1136/bcr-2020-241152 ◽

2021 ◽

Vol 14 (4) ◽

pp. e241152

Author(s):

Geminiganesan Sangeetha ◽

Divya Dhanabal ◽

Saktipriya Mouttou Prebagarane ◽

Mahesh Janarthanan

Keyword(s):

Muscle Weakness ◽

Juvenile Dermatomyositis ◽

Inflammatory Myopathy ◽

Unusual Complication ◽

Ultrasound Screening ◽

Proximal Muscle Weakness ◽

Proximal Muscle ◽

Calcinosis Cutis ◽

First Case ◽

Medullary Nephrocalcinosis

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron’s papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. We describe a child whose presenting complaint was extensive calcinosis cutis. Subtle features of proximal muscle weakness were detected on examination. MRI of thighs and a muscle biopsy confirmed myositis. Nephrocalcinosis was found during routine ultrasound screening. We report the first case of a child presenting with rare association of dermatomyositis, calcinosis cutis and bilateral medullary nephrocalcinosis.

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Juvenile dermatomyositis - A case report with review on oral manifestations and oral health considerations

International Journal of Orofacial Myology ◽

10.52010/ijom.2018.44.1.4 ◽

2018 ◽

Vol 44 (1) ◽

pp. 52-61

Author(s):

Pritesh Ruparelia ◽

Oshin Verma ◽

Vrutti Shah ◽

Krishna Shah

Keyword(s):

Oral Health ◽

Muscle Weakness ◽

Juvenile Dermatomyositis ◽

Oral Manifestations ◽

Proximal Muscle Weakness ◽

Proximal Muscle ◽

Inflammatory Myositis ◽

Life Threatening

Juvenile Dermatomyositis is the most common inflammatory myositis in children, distinguished by proximal muscle weakness, a characteristic rash and Gottron’s papules. The oral lesions most commonly manifest as diffuse stomatitis and pharyngitis with halitosis. We report a case of an 8 year old male with proximal muscle weakness of all four limbs, rash, Gottron’s papules and oral manifestations. Oral health professionals must be aware of the extraoral and intraoral findings of this rare, but potentially life threatening autoimmune disease of childhood, for early diagnosis, treatment, prevention of long-term complications and to improve the prognosis and hence, the quality of life for the patient.

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Dermatomyositis-specifikus autoantitesttel rendelkező és autoantitest-negatív betegeink klinikai jellemzőinek és laboratóriumi paramétereinek összehasonlítása

Orvosi Hetilap ◽

10.1556/650.2015.30221 ◽

2015 ◽

Vol 156 (36) ◽

pp. 1451-1459 ◽

Cited By ~ 3

Author(s):

Levente Bodoki ◽

Dóra Budai ◽

Melinda Nagy-Vincze ◽

Zoltán Griger ◽

Zoe Betteridge ◽

...

Keyword(s):

Muscle Weakness ◽

Matrix Protein ◽

Skin Lesions ◽

Clinical Findings ◽

Proximal Muscle Weakness ◽

Proximal Muscle ◽

Nuclear Matrix Protein ◽

Specific Antibodies ◽

Antibody Positivity ◽

Specific Autoantibody

Introduction: Myositis is an autoimmune disease characterised by proximal muscle weakness. Aim: The aim of the authors was to determine the frequency of dermatomyositis-specific autoantibodies (anti-Mi-2, anti-transcriptional intermediary factor 1 gamma, anti-nuclear matrix protein 2, anti-small ubiquitin-like modifier activating enzyme, anti-melanoma differentiation-associated gene) in a Hungarian myositis population and to compare the clinical features with the characteristics of patients without myositis-specific antibodies. Method: Antibodies were detected using immunoblot and immunoprecipitation. Results: Of the 330 patients with nyositis, 48 patients showed dermatomyositis-specific antibody positivity. The frequency of antibodies in these patients was lower than those published in literature Retrospective analysis of clinical findings and medical history revealed that patients with dermatomyositis-specific autoantibody had more severe muscle weakness and severe skin lesions at the beginning of the disease. Conclusions: Antibodies seem to be useful markers for distinct clinical subsets, for predicting the prognosis of myositis and the effectiveness of the therapy. Orv. Hetil., 2015, 156(36), 1451–1459.

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