AACE Clinical Case Reports

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ISSN / EISSN : 2376-0605 / 2376-0605
Published by: Elsevier BV (10.1016)
Total articles ≅ 675
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Ilana R. Bass, Amanda Leiter, Yevgeniya Pozharny, Raj Shrivastava,
Published: 25 October 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.10.004

Abstract:
Background Cushing Disease (CD) in pregnancy is a rare, but serious, disease that adversely impacts maternal and fetal outcomes. As the sole use of metyrapone in the management of CD has been rarely reported, we describe our experience using it to treat a pregnant patient with CD. Case Report 34-year-old woman with hypertension who was diagnosed with adrenocorticotropic hormone-dependent CD based on a urinary free cortisol (UFC) of 290 μg/24hr (reference 6-42μg/dL) and abnormal dexamethasone suppression test (cortisol 12.4 μg/dL) before becoming pregnant. She conceived naturally 12 weeks post-transsphenoidal surgery, and was subsequently found to have persistent disease with UFC 768μg/dL. Surgery was deemed high risk given the proximity of the tumor to the right carotid artery and high likelihood of residual disease. Instead, she was managed with metyrapone throughout her pregnancy and titrated to goal UFC of <150μg/24hr due to the known physiologic rise in cortisol during gestation. The patient had diet-controlled gestational diabetes, and well-controlled hypertension. She gave birth at 37 weeks gestation to a healthy baby boy, without adrenal insufficiency in the baby or mother. Discussion This CASE highlights the successful use of metyrapone throughout pregnancy to manage CD in patients where surgery is considered high risk or low likelihood of cure. While metyrapone is effective, close surveillance is required for worsening hypertension, hypokalemia, and potential adrenal insufficiency. Though no fetal adverse events have been reported, this medication crosses the placenta and long-term effects are unknown. Conclusion We describe a CASE of CD during pregnancy that was successfully treated with metyrapone.
Liza Das, Vandana Dhiman, Pinaki Dutta, Ashwani Sood, Mahesh Prakash, Simran Kaur, Ellen Steenackers, Gretl Hendrickx, Devi Dayal, Wim Van Hul, et al.
Published: 19 October 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.10.002

Abstract:
Background Camurati Engelmann disease (CED) is a rare bone dysplasia characterized by diffuse diaphyseal osteosclerosis. Skull-base involvement in CED can result in hypopituitarism, but is seldom reported. Our objective was to report a patient with acquired hypopituitarism due to CED and assess the management challenges. Case description A 20-year-old boy presented with lower limb pain. He had walking difficulty in childhood which was diagnosed as CED and managed with prednisolone. He later discontinued treatment and was lost to follow-up. Current re-evaluation showed short stature (-3.6SD), low weight (-4.3SD), and delayed puberty with delayed bone age (13 years). He was found to have secondary hypogonadism (LH 0.1mIU/ml [1.7-8.6mIU/ml], FSH 1.0mIU/ml [1.5-12.4 mIU/ml], testosterone 0.087nmol/l [9-27nmol/l]), growth hormone deficiency (low IGF-I 120ng/ml [226-903]), peak GH 7ng/ml on insulin-induced hypoglycemia) and secondary hypocortisolism (cortisol 105nmol/l [170-550nmol/l], ACTH 6pg/ml [5-65pg/ml]). Serum prolactin was normal (8.3ng/ml [5-20ng/ml]) and he was euthyroid on levothyroxine replacement. MRI revealed partially empty sella. Sanger sequencing revealed a missense mutation (p.R218C/c.652C>T) in exon 4 of the TGF-β1 gene. The patient was treated with zoledronate, losartan, oral prednisolone and continued on levothyroxine and testosterone replacement, resulting in symptomatic improvement. Discussion The index case manifested severe CED requiring multimodality therapy. Later, he developed combined pituitary hormone deficiencies, which were managed with thyroid and gonadal hormone replacement with continuation of glucocorticoids. A literature review of available studies showed partial efficacy of bisphosphonates in CED. Conclusion Skull-base involvement in CED can lead to structural and functional hypopituitarism as a result of intracranial hypertension.
Souad Al-Bacha,
Published: 19 October 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.10.001

Abstract:
Background/Objective The development of Graves disease (GD) after subacute thyroiditis (SAT) is rare, with approximately 31 reported cases, only 5 of which occurred in men2-15. We describe a case of GD diagnosed by newly elevated thyroid stimulating immunoglobulin (TSI) and TSH receptor autoantibody (TRAb) after SAT. Case Report A 32-year-old Chinese man presented with right anterior neck pain and swelling, sore throat, cough and fever. He had a diffuse tender goiter but no proptosis, lid lag, or stare. Thyroid-stimulating hormone (TSH) was 0.03 mIU/mL (normal range [NR] 0.45-5.33), serum free thyroxine (FT4) 2.40 ng/dL (NR 0.61-1.44), total triiodothyronine (TT3) 113 ng/dL (NR 87-178), TSI < 0.10 IU/L (NR < 0.10), and erythrocyte sedimentation rate (ESR) 21 mm/hour (NR < 15). After 7 weeks of prednisone, symptoms resolved, FT4 was 0.95 ng/dL and TT3 91 ng/dL. At 11 weeks after SAT onset, TSH was <0.01 mIU/mL, TT3 257 ng/dL, FT4 3.03 ng/dL, TSI 1.94 IU/L, then 3.42 IU/L 2 weeks later, TRAb 8.72 IU/L (NR < 2), and ESR 4 mm/hour. After 1 month of methimazole, FT4 was 1.32 ng/dL and TT3 110 ng/dL. Genetic testing revealed HLA-B35 and DRB1*15:01 positivity. Discussion GD after SAT is thought to be due to activation of thyroid autoimmunity from SAT in genetically susceptible individuals8. Conclusions This case illustrates the induction of thyroid autoimmunity after SAT, resulting in GD, supporting TSI and/or TRAb testing if hyperthyroidism recurs. Presence of HLA associations with SAT and GD suggests a genetic contribution to the development of thyroid autoimmunity.
Published: 30 September 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.09.003

Abstract:
Background Ewing Sarcoma (ES) with Ectopic ACTH Syndrome (ectopic ACTH) is extremely unusual. This report details the first case in English literature of pediatric ES involving proximal humerus with florid ectopic ACTH. Case Report A nine-year-old girl presented with mooning of face and abdominal distension since 5 months with unremarkable past history. Her 8 am serum cortisol was 42μg/dl (reference:4.3-22.4μg/dl). Serum ACTH of 225pg/ml(reference:10-46pg/ml) suggested ACTH-dependent Cushing's Syndrome. Serum cortisol after Overnight-Dexamethasone-Suppression-Test was 60μg/dl (reference:<1.8μg/dl) suggesting non-suppressibility. High-Dose-Dexamethasone-Suppression-Test was non-suppressible(suggesting ectopic ACTH secretion). MRI brain was normal. Chest X-ray demonstrated lytic lesion in left humerus. MRI and 3D-CT, left shoulder showed expansile lesion in proximal humerus. A tru-cut bone biopsy with histopathology and immunostaining revealed clusters of small round cells with mitotic index of 6-8/10hpf. CD99 staining confirmed ES. Ketoconazole was initiated. She received one cycle of chemotherapy with cyclophosphamide, vincristine, doxorubicin and succumbed to the illness one-week post-chemotherapy. Discussion Ectopic ACTH in the pediatric age group is rare and coupled with the underlying etiology as ES makes this case unique. Only four cases of ectopic ACTH with ES have been previously reported in tibia, retroperitoneum, ischiopubic rami, and ribs. This is the first case of ES to have origin in the humerus with ectopic ACTH. Conclusions This case highlights an atypical presentation of ectopic ACTH caused by ES arising from the humerus. The etiology of ectopic ACTH as ES was made by the chance radiographic evidence of a lytic humerus lesion rather than symptoms.
, Nidhi Agrawal, Elcin Zan, Valerie Peck
Published: 30 September 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.09.004

Abstract:
A 70 year-old woman was referred for a pituitary lesion incidentally discovered during the evaluation of headaches.
Kripa Elizabeth Cherian, Nitin Kapoor,
Published: 18 September 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.09.002

Abstract:
Background/Objective Vanishing bone disease (VBD) is a rare entity, characterized by massive osteolysis and lympho-vascular proliferation. Our objective is to report a 22-year-old man presenting with VBD of ribs and challenges involved with management in this location. Case report A 22-year-old man presented with left-sided chest and back pain. X-ray done showed missing left 4th to 6th ribs. ESR was normal[5 mm/hr N: <10], ruling out overt infectious and inflammatory pathology. PET-CT excluded an underlying malignancy. Serum protein electrophoresis did not show an M band. Normal calcium [9.0 mg/dL N: 8.3-10.4 mg/dL] and PTH[38 pg/mL N:8-74 pg/mL] excluded primary hyperparathyroidism as a cause for osteolysis. A CT scan of chest revealed only lytic destruction and resorption of the left 4th-6th ribs. A diagnosis of VBD was made. A biopsy was deferred owing to the location of disease involving the thoracic-cage which could cause permanent lymphatic leak. He was administered parenteral zoledronate - 4mg monthly for three months, then once every three months for the next two years with interferon alpha 2B 6 MIUs/c thrice weekly, then twice a week and tapered to once every 10 days. On follow-up at three years, he remained stable, with no further osteolysis or radiographic progression of disease. Discussion/Conclusion VBD may present diagnostic and therapeutic challenges; the abovementioned patient was diagnosed with the same, after excluding secondary causes of osteolysis. While a high index of suspicion is required to diagnose VBD, it also mandates close monitoring and follow up.
Lindsay Tm. Hoang, Andrea N. Snitchler, Michael I. Orestes, Mohamed Km. Shakir, Thanh D. Hoang
Published: 8 September 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.09.001

Abstract:
A 53-year-old woman presented with a 4-cm left thyroid mass discovered during a physical examination. She reported no history of head or neck radiation and no family history of thyroid carcinoma. However, she has a long history of hypothyroidism, treated with daily 88 mcg levothyroxine. She has not had any history of weight loss or other systemic symptoms over the past year and denies any compressive symptoms, dysphagia, odynophagia, or hoarseness. Neck ultrasound showed a heterogeneous and atrophic right thyroid lobe 2.2 x 0.4 x 1.1 cm. The left thyroid lobe measures 4.8 x2.1 x 1.9 cm. The isthmus measures 0.2 cm. There was a left mid/posterior gland, TIRADS 5, highly suspicious solid, isoechoic mass, measures 3.4 x 2.0 x 3.5 cm (Figure 1Figure 1). Laboratory findings showed normal serum TSH and calcitonin levels. An ultrasound-guided fine needle aspiration of the thyroid mass revealed abundant squamous cells without follicular cells or colloid present (Figure 2Figure 2). What is the diagnosis?
Sina Jasim
Published: 28 August 2021
AACE Clinical Case Reports, Volume 7; https://doi.org/10.1016/j.aace.2021.08.003

Abstract:
Thank you for being part of our journal and welcome to another issue of AACE Clinical Case Reports. The current issue includes many interesting and educational case reports to share. We will provide a summary of those cases. For more details, please access ACCR online journal available at https://www.aaceclinicalcasereports.com/
Khushboo Agarwal, Remya Rajan, Jinson Paul, , Nitin Kapoor, Thomas V. Paul
Published: 24 August 2021
AACE Clinical Case Reports; https://doi.org/10.1016/j.aace.2021.08.002

Abstract:
Background /Objective:The treatment of Camurati-Engelmann disease (CED) involves the use of glucocorticoids, analgesics and bisphosphonates; experience with the use of losartan is limited. Our objective is to describe the case of a patient diagnosed with CED whose symptoms remained refractory while on steroids and bisphosphonates, and was successfully treated with losartan. Case Report A 27-year-old female presented with bony pains involving her extremities and large joints for one year. Clinical examination revealed bony tenderness and proximal myopathy with elevated CTX1617 pg/mL(N:137-573 pg/mL) and P1NP 163ng/mL(N:5.1-58.3 ng/mL). Calcium (9.4 mg/dL;N:8.3-10.4 mg/dL),phosphate(3.4mg/dL;N:2.5-4.5mg/dL)and parathormone(62 pg/mL; N:8-80 pg/mL)were normal. X-rays showed hyperostosis involving the diaphyseal region of long bones of the lower and upper limbs and a provisional diagnosis of CED was made. She was treated with prednisolone, 30 mg daily, with which she reported some improvement. As she had developed exogenous Cushing syndrome with prednisolone, its dose was tapered. Subsequently her bony pains worsened. Thereafter, she was initiated on oral alendronate. Owing to persistent pain, losartan was added following which she had marked improvement in bony pains with reduction in CTX (375 pg/mL) and P1NP (50 ng/mL). Discussion Occasionally, CED presents therapeutic challenges and when its symptoms remain refractory to conventional doses of steroids and bisphosphonates, other options may be needed. The abovementioned patient was initiated on losartan which acts by downregulation of TGF β1, leading to improvement of pain. Conclusion Losartan, downregulates TGF β1 and may be offered as a steroid-sparing option in individuals diagnosed with CED in case symptoms remain refractory to conventional treatment.
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