Patient Demographics > Country of Treatment > Finland
You are looking at 1 - 3 of 3 items
Search for other papers by Leevi A Toivonen in
Google Scholar
PubMed
Search for other papers by Marko H Neva in
Google Scholar
PubMed
Search for other papers by Thanos Sioris in
Google Scholar
PubMed
Search for other papers by Pia Isomäki in
Google Scholar
PubMed
Search for other papers by Saara Metso in
Google Scholar
PubMed
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.
Search for other papers by Minna Koivikko in
Google Scholar
PubMed
Search for other papers by Tapani Ebeling in
Google Scholar
PubMed
Search for other papers by Markus Mäkinen in
Google Scholar
PubMed
Search for other papers by Juhani Leppäluoto in
Google Scholar
PubMed
Search for other papers by Antti Raappana in
Google Scholar
PubMed
Search for other papers by Petteri Ahtiainen in
Google Scholar
PubMed
Search for other papers by Pasi Salmela in
Google Scholar
PubMed
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.
Search for other papers by Marlene Tarvainen in
Google Scholar
PubMed
Department of Internal Medicine, Tampere University Hospital, Tampere, Finland
Search for other papers by Satu Mäkelä in
Google Scholar
PubMed
Department of Internal Medicine, Tampere University Hospital, Tampere, Finland
Search for other papers by Jukka Mustonen in
Google Scholar
PubMed
Department of Internal Medicine, Tampere University Hospital, Tampere, Finland
Division of Internal Medicine, Seinäjoki Central Hospital, Seinäjoki, Finland
Search for other papers by Pia Jaatinen in
Google Scholar
PubMed
Summary
Puumala hantavirus (PUUV) infection causes nephropathia epidemica (NE), a relatively mild form of haemorrhagic fever with renal syndrome (HFRS). Hypophyseal haemorrhage and hypopituitarism have been described in case reports on patients with acute NE. Chronic hypopituitarism diagnosed months or years after the acute illness has also been reported, without any signs of a haemorrhagic aetiology. The mechanisms leading to the late-onset hormonal defects remain unknown. Here, we present a case of NE-associated autoimmune polyendocrinopathy and hypopituitarism presumably due to autoimmune hypophysitis. Thyroid peroxidase antibody seroconversion occurred between 6 and 12 months, and ovarian as well as glutamate decarboxylase antibodies were found 18 months after acute NE. Brain MRI revealed an atrophic adenohypophysis with a heterogeneous, low signal intensity compatible with a sequela of hypophysitis. The patient developed central (or mixed central and peripheral) hypothyroidism, hypogonadism and diabetes insipidus, all requiring hormonal replacement therapy. This case report suggests that late-onset hormonal defects after PUUV infection may develop by an autoimmune mechanism. This hypothesis needs to be confirmed by prospective studies with sufficient numbers of patients.
Learning points:
-
Pituitary haemorrhage resulting in hypopituitarism has been reported during acute HFRS caused by PUUV and other hantaviruses.
-
Central and peripheral hormone deficiencies developing months or years after HFRS have also been found, with an incidence higher than that in the general population. The pathogenesis of these late-onset hormonal defects remains unknown.
-
This case report suggests that the late-onset hypopituitarism and peripheral endocrine defects after HFRS could evolve via autoimmune mechanisms.
-
The sensitivity of current anti-pituitary antibody (APA) tests is low. A characteristic clinical course, together with typical brain MRI and endocrine findings may be sufficient for a non-invasive diagnosis of autoimmune hypophysitis, despite negative APAs.