Vol 10, No 4 (2006)
Original paper
Published online: 2006-08-08
Patient with bilateral, adrenal pheochromocytoma and neurofibromatosis type 1 - case report
Mariola Pęczkowska, Agata Kubaszek, Hanna Janaszek-Sitkowska, Elżbieta Florczak, Marek Kabat, Maciej Otto, Anna Okruszko, Jacek Szmidt, Andrzej Januszewicz
Nadciśnienie tętnicze 2006;10(4):294-300.
Vol 10, No 4 (2006)
Prace oryginalne
Published online: 2006-08-08
Abstract
Neurofibromatosis type 1 (NF1) is one of the most common
autosomal dominant disorders in man, affecting 1 in 3000
people. Café au lait spots, axillary freckling, dermal neurofibromas
and Lisch nodules of the iris are the most frequent
manifestations of the disease. Affected persons are also at
risk of developing benign and malignant tumors. The association
between NF1 and pheochromocytoma is present in
1-10% of cases. Clinical features of pheochromocytoma in
neurofibromatosis 1 patients are similar to those in patients
with sporadic pheochromocytomas, unlike pheochromocytomas
associated with other hereditary syndromes. Here we
report a case of pheochromocytoma associated with NF1.
48-year-old man with NF1 was admitted to our hospital
because of uncontrolled hypertension. On physical examination,
cafe-au-lait spots and neurofibromas were observed.
Lisch nodules were visible in split lamp. 24-hour urine catecholamine
excretion was elevated. Computed tomography
revealed two small tumors in both adrenal glands which
was confirmed by 131I-MIBG scintigraphy. After diagnosis of
pheochromocytoma had been established, medical management
was initiated using phenoxybenzamine with concomitant
using of metoprolol and was continued for two weeks
preoperatively. Bilateral laparoscopic adrenalectomy was performed.
Histopathological examination confirmed diagnosis of pheochromocytoma. The authors discuss the pathogenetic
aspects of this rare pathological association and clinical manifestation
of NF1.
Abstract
Neurofibromatosis type 1 (NF1) is one of the most common
autosomal dominant disorders in man, affecting 1 in 3000
people. Café au lait spots, axillary freckling, dermal neurofibromas
and Lisch nodules of the iris are the most frequent
manifestations of the disease. Affected persons are also at
risk of developing benign and malignant tumors. The association
between NF1 and pheochromocytoma is present in
1-10% of cases. Clinical features of pheochromocytoma in
neurofibromatosis 1 patients are similar to those in patients
with sporadic pheochromocytomas, unlike pheochromocytomas
associated with other hereditary syndromes. Here we
report a case of pheochromocytoma associated with NF1.
48-year-old man with NF1 was admitted to our hospital
because of uncontrolled hypertension. On physical examination,
cafe-au-lait spots and neurofibromas were observed.
Lisch nodules were visible in split lamp. 24-hour urine catecholamine
excretion was elevated. Computed tomography
revealed two small tumors in both adrenal glands which
was confirmed by 131I-MIBG scintigraphy. After diagnosis of
pheochromocytoma had been established, medical management
was initiated using phenoxybenzamine with concomitant
using of metoprolol and was continued for two weeks
preoperatively. Bilateral laparoscopic adrenalectomy was performed.
Histopathological examination confirmed diagnosis of pheochromocytoma. The authors discuss the pathogenetic
aspects of this rare pathological association and clinical manifestation
of NF1.
Keywords
pheochromocytoma; neurofibromatosis type 1; hypertension
Title
Patient with bilateral, adrenal pheochromocytoma and neurofibromatosis type 1 - case report
Journal
Arterial Hypertension
Issue
Vol 10, No 4 (2006)
Article type
Original paper
Pages
294-300
Published online
2006-08-08
Page views
905
Article views/downloads
5150
Bibliographic record
Nadciśnienie tętnicze 2006;10(4):294-300.
Keywords
pheochromocytoma
neurofibromatosis type 1
hypertension
Authors
Mariola Pęczkowska
Agata Kubaszek
Hanna Janaszek-Sitkowska
Elżbieta Florczak
Marek Kabat
Maciej Otto
Anna Okruszko
Jacek Szmidt
Andrzej Januszewicz