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Patient Demographics

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Leevi A Toivonen Department of Orthopaedic and Trauma Surgery, Department of Internal Medicine

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Marko H Neva Department of Orthopaedic and Trauma Surgery, Department of Internal Medicine

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Thanos Sioris Department of Cardiothoracic Surgery, Department of Internal Medicine

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Pia Isomäki Centre for Rheumatic Diseases, Department of Internal Medicine

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Saara Metso Unit of Endocrinology, Department of Internal Medicine, Faculty of Medicine and Health Technology, Tampere University, Tampere University Hospital, Tampere, Finland

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Summary

Gorham–Stout disease (GSD) is a rare bone disease characterized by massive osteolysis and lymphatic proliferation. The origin of the condition is unknown, and no established treatment protocol exists. Massive pleural effusion is a frequent complication of GSD in the thoracic region. We present the case of a 23-year-old male with thoracic GSD, subsequent paraparesis, and life-threatening pleural effusion. The patient was managed by a multidisciplinary team with a good recovery. The pleural effusion was successfully treated with a pleuro-peritoneal shunt. This is the first report of the use of this mini-invasive technique in the management of pleural effusion related to GSD. Further, we present the potential role of interleukin-6 and bone resorption markers in the measurement of the disease activity.

Learning points

  • Multidisciplinary approach is important in the management of rare and severe disorders such as Gorham-Stout disease.

  • Pleuro-peritoneal shunting is a valuable option in the treatment of pleural effusion related to GSD.

  • Interleukin-6 and bone resorption markers appear useful in measuring the disease activity of GSD.

Taxonomy:
Clinical Overview, Gland/Organ, Bone, Topic, Bone, Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, White, Country of Treatment, Finland, Related Disciplines, Surgery, Publication Details, Case Report Type, Novel treatment
DOI:
https://doi.org/10.1530/EDM-21-0101
Volume/Issue:
Volume 2022: Issue 1
Open access
Minna Koivikko Department of Internal Medicine, University of Oulu and Oulu University Hospital, Oulu, Finland

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Tapani Ebeling Department of Internal Medicine, University of Oulu and Oulu University Hospital, Oulu, Finland

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Markus Mäkinen Department of Pathology, University of Oulu, Oulu, Finland

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Juhani Leppäluoto Institute of Biomedicine, University of Oulu, Oulu, Finland

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Antti Raappana Department of Otorhinolaryngology, University of Oulu and Oulu University Hospital, Oulu, Finland

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Petteri Ahtiainen Department of Internal Medicine, Central Finland Central Hospital, Jyväskylä, Finland

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Pasi Salmela Department of Internal Medicine, University of Oulu and Oulu University Hospital, Oulu, Finland

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Summary

Multiple endocrine neoplasia type 1 NM_001370259.2(MEN1):c.466G>C(p.Gly156Arg) is characterized by tumors of various endocrine organs. We report on a rare, growth hormone-releasing hormone (GHRH)-releasing pancreatic tumor in a MEN1 patient with a long-term follow-up after surgery. A 22-year-old male with MEN1 syndrome, primary hyperparathyroidism and an acromegalic habitus was observed to have a pancreatic tumor on abdominal CT scanning, growth hormone (GH) and insulin-like growth factor 1 (IGF1) were elevated and plasma GHRH was exceptionally high. GHRH and GH were measured before the treatment and were followed during the study. During octreotide treatment, IGF1 normalized and the GH curve was near normal. After surgical treatment of primary hyperparathyroidism, a pancreatic tail tumor was enucleated. The tumor cells were positive for GHRH antibody staining. After the operation, acromegaly was cured as judged by laboratory tests. No reactivation of acromegaly has been seen during a 20-year follow-up. In conclusion, an ectopic GHRH-producing, pancreatic endocrine neoplasia may represent a rare manifestation of MEN1 syndrome.

Learning points

  • Clinical suspicion is in a key position in detecting acromegaly.

  • Remember genetic disorders with young individuals having primary hyperparathyroidism.

  • Consider multiple endocrine neoplasia type 1 syndrome when a person has several endocrine neoplasia.

  • Acromegaly may be of ectopic origin with patients showing no abnormalities in radiological imaging of the pituitary gland.

Taxonomy:
Clinical Overview, Gland/Organ, Pancreas, Topic, Neuroendocrinology, Tumours and neoplasia, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, White, Country of Treatment, Finland, Related Disciplines, Gastroenterology, General practice, Genetics, Publication Details, Case Report Type, Insight into disease pathogenesis or mechanism of therapy
DOI:
https://doi.org/10.1530/EDM-21-0079
Volume/Issue:
Volume 2022: Issue 1
Open access