Rare Diseases Symptoms Automatic Extraction

Incidental Phaeochromocytoma on Staging PET-CT in a Patient with a Sigmoid Tumour and Situs Inversalis Totalis.

[adrenal incidentaloma]

An adrenal "incidentaloma" is defined as an unexpected finding on radiological imaging performed for unrelated indications. Improvements in radiological technology have seen a dramatic increase in this phenomenon. We report the unique case of a 60-year-old female presenting with a 6-month history of abdominal pain, altered bowel habit, and rectal bleeding. Her past medical history included situs inversus totalis and a patent ductus arteriosus. Colonoscopy revealed an ulcerated tumour in her sigmoid colon. Staging PET-CT confirmed a sigmoid tumour and also identified a large heterogenous enhancing FDG-avid right adrenal mass. Biochemical testing/MIBG imaging confirmed a right adrenal phaeochromocytoma. Hypertension was controlled and excision was performed via a transperitoneal laparoscopic adrenalectomy, in the left lateral decubitus position. Uniquely, liver retraction was not required due to its position in the left hypochondrium. Histology confirmed a benign 46mm phaeochromocytoma. Subsequent uncomplicated sigmoid colectomy/right salpingo-oophorectomy for a locally advanced colonic tumour was performed with adjuvant chemotherapy. This case highlights the importance of accurately identifying functioning adrenal tumours before elective surgery as undiagnosed phaeochromocytomas carry significant intraoperative morbidity/mortality. Right adrenalectomy was made easier in this patient by the liver's unique position. Uncomplicated colorectal resection was made possible by combined preoperative functional/anatomical imaging.

Diseases presenting "hypertension" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • cadasil
  • child syndrome
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cystinuria
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • pendred syndrome
  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated