Diagnosis and Treatment > Investigation > Ultrasound scan

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Manas Ghosh Sanjiban Hospital, Kolkata, India

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Ambarish Bhattacharya Department of Medicine, Sanjiban Hospital, Kolkata, India

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Kaushik Ghosh Department of Medicine, Malda Medical College, Malda, West Bengal 732101, India

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Atri Chatterjee Department of Neurology, NRS Medical College, Kolkata, India

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Sisir Chakraborty Department of Medicine, College of Medicine and Sagore Dutta Hospital, Kolkata, India

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Sanat Kumar Jatua Department of Medicine, NRS Medical College, Kolkata, India

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Summary

Motor neuron disease (MND) is a progressive devastating neurodegenerative disease, which universally progresses towards death. Hence, every attempt should be made to find out if there are any treatable conditions, which can mimic MND. Herein, we describe a case of hypercalcaemia due to primary hyperparathyroidism confused as MND and subsequently cured with parathyroid surgery.

Learning points

  • Any patient with neurological disorder should have a screening of all the common electrolytes including calcium as electrolyte imbalance can present with paralysis (e.g. hypokalaemia) to amyotrophic lateral sclerosis (e.g. hypercalcaemia).

  • No patient should be stamped as having MND without having a proper work-up of all its differentials as there might be a treatable condition masquerading as MND.

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N Atapattu Lady Ridgeway Hospital, Colombo, Sri Lanka

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K A C P Imalke General Hospital, Matara, Sri Lanka

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M Madarasinghe General Hospital, Matara, Sri Lanka

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A Lamahewage General Hospital, Matara, Sri Lanka

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K S H de Silva Lady Ridgeway Hospital, Colombo, Sri Lanka
Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka

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Summary

Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions.

Learning points

  • Polyuria and polydipsia are rare symptoms of phaeochromocytoma.

  • Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis.

  • Classic features are not always necessary for diagnostic evaluation of rare diseases.

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Sachiko-Tsukamoto Kawashima Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Department of Diabetes, Endocrinology and Metabolism Tango Central Hospital, Kyoto, Japan

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Takeshi Usui Clinical Research Institute

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Yohei Ueda Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Maiko-Kakita Kobayashi Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Mika Tsuiki Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Kanako Tanase-Nakao Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Kazutaka Nanba Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Tetsuya Tagami Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Mitsuhide Naruse Clinical Research Institute

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Yoshiki Watanabe Department of Head and Neck Surgery, National Hospital Organization Kyoto Medical Center, 1-1 Mukaihata-cho, Fukakusa, Fushimi-ku, Kyoto 612-8555, Japan

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Ryo Asato Department of Head and Neck Surgery, National Hospital Organization Kyoto Medical Center, 1-1 Mukaihata-cho, Fukakusa, Fushimi-ku, Kyoto 612-8555, Japan

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Sumiko Kato Osaka Saiseikai Ibaraki Hospital, Osaka, Japan

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Akira Shimatsu Clinical Research Institute

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Summary

Parathyroid cystic adenomas are often misdiagnosed as thyroid cysts and routine preoperative diagnostic tools, such as ultrasonography (US) or 99m technetium-sestamibi (99mTc-MIBI) scans, cannot clearly distinguish between these entities. We present a 67-year-old hypercalcemic woman with a cervical cystic lesion who had negative sestamibi scan results. Her laboratory data indicated primary hyperparathyroidism (serum calcium concentration 14.0 mg/dl, phosphate concentration 2.3 mg/dl, and intact parathyroid hormone (PTH) concentration 239 pg/ml). The cervical US and computed tomography scans revealed a large and vertically long cystic mass (12×11×54 mm). A mass was located from the upper end of the left thyroid lobe to the submandibular region and was not clearly distinguishable from the thyroid. For preoperative definitive diagnosis, we carried out a parathyroid fine-needle aspiration (FNA) and PTH assay (PTH–FNA) of liquid aspirated from the cyst. The intact PTH–FNA concentration was 1.28×106 pg/ml, and the patient was diagnosed with primary hyperparathyroidism due to a cystic mass. She underwent a left upper parathyroidectomy and her serum calcium and intact PTH concentration immediately decreased to normal levels. This report describes the usefulness of PTH–FNA for localizing and differentiating an atypical functional parathyroid lesion from nonfunctional tissue in primary hyperparathyroidism.

Learning points

  • Cystic parathyroid lesions, even in the case of elevated PTH levels, can produce negative results in 99mTc-MIBI scans.

  • Preoperative diagnosis of parathyroid cysts detectable on US is possible by parathyroid FNA and PTH assay (PTH–FNA) of liquid aspirated from the cyst, if malignancy is not suspected.

  • PTH–FNA could be helpful in the differential diagnosis of an equivocal cervical tumor.

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K Nadarasa Department of Endocrinology, St Bartholomew's Hospital, London, UK

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M Bailey Department of Endocrinology, St Bartholomew's Hospital, London, UK

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H Chahal Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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O Raja Department of Endocrinology, St Bartholomew's Hospital, London, UK

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R Bhat Department of Neonatology, King's College Hospital, London, UK

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C Gayle Department of Diabetes, King's College Hospital, London, UK

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A B Grossman Department of Endocrinology, St Bartholomew's Hospital, London, UK

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M R Druce Department of Endocrinology, St Bartholomew's Hospital, London, UK

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Summary

We present the case of a patient with metastatic parathyroid carcinoma whose hypercalcaemia was medically managed through two pregnancies. The diagnosis was made when the patient presented with chronic knee pain and radiological findings consistent with a brown tumour, at the age of 30. Her corrected calcium and parathyroid hormone (PTH) levels were significantly elevated. Following localisation studies, a right parathyroidectomy was performed with histology revealing parathyroid carcinoma, adherent to thyroid tissue. Aged 33, following biochemical recurrence of disease, the patient underwent a second operation. A subsequent CT and FDG–PET revealed bibasal pulmonary metastases. Aged 35, the patient was referred to our unit for treatment of persistent hypercalcaemia. The focus of treatment at this time was debulking metastatic disease using radiofrequency ablation. Despite advice to the contrary, the patient conceived twice while taking cinacalcet. Even though there are limited available data regarding the use of cinacalcet in pregnancy, both pregnancies continued to term with the delivery of healthy infants, using intensive medical management for persistent hypercalcaemia.

Learning points

  • Parathyroid carcinoma is a rare cause of primary hyperparathyroidism.

  • Hypercalcaemia during pregnancy can result in significant complications for both the mother and the foetus.

  • The use of high-dose cinacalcet in pregnancy has been shown, in this case, to aid in the management of resistant hypercalcaemia without teratogenicity.

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Mahmud Abo Salook Endocrine Institute

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Carlos Benbassat Endocrine Institute
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

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Yulia Strenov Pathology Laboratory, Rabin Medical Center, Beilinson Campus, Petah Tiqva 49100, Israel

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Amit Tirosh Endocrine Institute
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

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Summary

A 55-year-old male, with a positive medical history for hypothyroidism, treated with stable doses for years was admitted with subacute thyroiditis and a feeling of pain and pressure in the neck. Laboratory tests showed decrease in TSH levels, elevated erythrocyte sedimentation rate, and very high antithyroid antibodies. Owing to enlarging goiter and exacerbation in the patient's complaints, he was operated with excision of a fibrotic and enlarged thyroid lobe. Elevated IgG4 plasma levels and high IgG4/IgG plasma cell ratio on immunohistochemistry led to the diagnosis of IgG4-mediated thyroiditis. We concluded that IgG4-thyroiditis and IgG4-related disease should be considered in all patients with an aggressive form of Hashimoto's thyroiditis.

Learning points

  • IgG4-related disease is a systemic disease that includes several syndromes; IgG4-related thyroiditis is one among them.

  • IgG4-thyroiditis should be considered in all patients with an aggressive form of Hashimoto's thyroiditis.

  • Patients with suspected IgG4-thyroiditis should have blood tested for IgG4/IgG ratio and appropriate immunohistochemical staining if possible.

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Lauren J Baker Endocrinology Department, Concord Hospital, Sydney, New South Wales, Australia

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Anthony J Gill Pathology Department, Royal North Shore Hospital, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

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Charles Chan Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
Anatomical Pathology Department, Concord Hospital, Sydney, New South Wales, Australia

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Betty P C Lin Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
Anatomical Pathology Department, Concord Hospital, Sydney, New South Wales, Australia

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Bronwyn A Crawford Endocrinology Department, Concord Hospital, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

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Summary

In 2006, a 58-year-old woman presented with thyrotoxicosis. She had undergone left hemithyroidectomy 14 years before for a benign follicular adenoma. Ultrasound imaging demonstrated bilateral cervical lymphadenopathy with enhanced tracer uptake in the left lateral neck on a Technetium-99m uptake scan. Fine-needle aspiration biopsy of a left lateral neck node was insufficient for a cytological diagnosis; however, thyroglobulin (Tg) washings were strongly positive. The clinical suspicion was of functionally active metastatic thyroid cancer in cervical lymph nodes. A completion thyroidectomy and bilateral cervical lymph node dissection were performed. Histology demonstrated benign multinodularity in the right hemithyroid, with bilateral reactive lymphadenopathy and 24 benign hyperplastic thyroid nodules in the left lateral neck that were classified as parasitic thyroid nodules. As there had been a clinical suspicion of thyroid cancer, and the hyperplastic/parasitic thyroid tissue in the neck was extensive, the patient was given ablative radioactive iodine (3.7 GBq). After 2 years, a diagnostic radioactive iodine scan was clear and the serum Tg was undetectable. The patient has now been followed for 7 years with no evidence of recurrence. Archived tissue from a left lateral neck thyroid nodule has recently been analysed for BRAF V600E mutation, which was negative.

Learning points

  • Thyrotoxicosis due to functional thyroid tissue in the lateral neck is very rare and may be due to metastatic thyroid cancer or benign parasitic thyroid tissue.

  • Parasitic thyroid nodules should be considered as a differential diagnosis of lateral neck thyroid deposits, particularly where there is a history of prior thyroid surgery.

  • Parasitic thyroid nodules may occur as a result of traumatic rupture or implantation from a follicular adenoma at the time of surgery.

  • The use of ablative radioactive iodine may be appropriate, as resection of all parasitic thyroid tissue can prove difficult.

  • BRAF mutational analysis of parasitic thyroid tissue may provide extra reassurance in the exclusion of papillary thyroid carcinoma.

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Pramila Dharmshaktu Department of Medicine, Maulana Azad Medical College, New Delhi, India

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Aditya Kutiyal Department of Medicine, Maulana Azad Medical College, New Delhi, India

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Dinesh Dhanwal Department of Medicine, Maulana Azad Medical College, New Delhi, India

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Summary

A 21-year-old female patient recently diagnosed with severe hypothyroidism was found to have a large ovarian cyst. In view of the large ovarian cyst, she was advised to undergo elective laparotomy in the gynaecology department. She was further evaluated in our medical out-patient department (OPD), and elective surgery was withheld. She was started on thyroxine replacement therapy, and within a period of 4 months, the size of the cyst regressed significantly, thereby improving the condition of the patient significantly. This case report highlights the rare and often missed association between hypothyroidism and ovarian cysts. Although very rare, profound hypothyroidism that can cause ovarian cysts in an adult should always be kept in the differential diagnosis to avoid unnecessary ovarian surgery.

Learning points

  • Hypothyroidism should be considered in the differential diagnosis of adult females presenting with multicystic ovarian tumours.

  • Adequate thyroid hormone replacement therapy can prevent these patients from undergoing unnecessary and catastrophic ovarian resection.

  • Surgical excision should be considered only when adequate thyroid replacement therapy fails to resolve ovarian enlargement.

  • In younger women with ovarian cysts, it is also desirable to avoid unnecessary surgery so as to not compromise fertility in the future.

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Gautam Das University Hospital of Wales, Cardiff CF14 4XW, UK

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Vinay S Eligar University Hospital of Wales, Cardiff CF14 4XW, UK

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Jyothish Govindan University Hospital of Wales, Cardiff CF14 4XW, UK

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D Aled Rees University Hospital of Wales, Cardiff CF14 4XW, UK

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Summary

Background: Hyperandrogenic states in pregnancy are rare but arise most commonly due to new-onset ovarian pathology in pregnancy. We describe the case of a young woman who presented in the latter half of her pregnancy with features of hyperandrogenism. We review the biochemical and imaging findings and discuss the differential diagnosis.

Case presentation: A 26-year-old woman presented in the later part of her pregnancy with widespread hirsutism. Biochemical testing confirmed hyperandrogenism (testosterone, 13.7 nmol/l and second-trimester pregnancy range, 0.9–4.9 nmol/l), although she had no history of menstrual disturbance, hirsutism or acne prior to conception. Radiological evaluation (ultrasound and magnetic resonance imaging) revealed multiple cystic lesions in both ovaries, leading to a presumptive diagnosis of hyperreactio luteinalis (HL). The implications of maternal hyperandrogenism on foetal virilisation were considered and the patient was counselled appropriately. She delivered a healthy baby boy uneventfully. Androgen levels, hirsutism and acne normalised within a few weeks of delivery.

Conclusion: HL can occur at any stage of pregnancy and is an important differential diagnosis in pregnant patients with features of androgen excess. Most cases regress spontaneously after delivery and major interventions are usually not needed.

Learning points

  • Hyperandrogenism in pregnancy is rare.

  • Clinical features are similar to the non-pregnant state in the mother but virilisation in the foetus can have profound consequences.

  • HL and pregnancy luteoma are the most common ovarian pathologies leading to hyperandrogenism in pregnancy.

  • Spontaneous regression occurs in the post-partum period in the vast majority of cases and surgery is only required for local complications.

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Roghieh Molaei Langroudi Diagnostic Radiology Department, Poursina Hospital, Guilan University of Medical Sciences, Guilan, Iran

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Fatemeh Ghazanfari Amlashi Guilan Endocrinology and Metabolism Research Center, Razi Hospital, Rasht, Guilan, Iran and

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Mohammad Hassan Hedayati Emami Department of Endocrinology, Guilan Endocrinology and Metabolism Research Center, Razi Hospital, Rasht, Guilan, Iran

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Summary

Background: Spontaneous ovarian hyperstimulation syndrome (sOHSS) can occur following hypothyroidism. Ultrasonography facilitates diagnosis and monitoring of this syndrome. We describe ovarian sonographic changes in a hypothyroid patient with sOHSS after treatment with levothyroxine (l-T4).

Case presentation: A 15-year-old girl presented with abdominal pain and distension for a few months. On examination, she had classical features of hypothyroidism. Abdominal and pelvic ultrasound revealed enlarged ovaries with multiple thin-walled cysts and mild ascitic fluid. On follow-up, abdominal ultrasound showed significant reduction of ovary size after 6 weeks of initiation of l-T4. Normal ovary size with complete regression of ovarian cysts was seen after 4 months.

Conclusion: Serial ultrasound in sOHSS associated with hypothyroidism showed regression of ovarian cysts and ovarian volume after 4 months whereas in other studies, it is reported to happen in various durations, presumably according to its etiology.

Learning points

  • OHSS can rarely occur due to hypothyroidism.

  • This type of OHSS can be simply treated by l-T4 replacement, rather than conservative management or surgery in severe cases.

  • Ultrasound follow-up shows significant regression of ovarian size and cysts within 6 weeks of initiation of l-T4.

  • Ultrasound follow-up shows normal ovarian size with complete resolution of ovarian cysts 4 months after treatment.

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