Rare Diseases Symptoms Automatic Extraction

Operative management of splenic injury in a patient with proteus syndrome.

[proteus syndrome]

A 20-year-old female with Proteus syndrome sustained splenic injury after fall from a bike. She was initially managed non-operatively at a different hospital for three days and was then referred to our level I trauma center in view of increasing abdominal pain and distention. On admission in the Emergency Department (ED), her pulse rate was 120 per minute and blood pressure was 108/68 mm Hg. Clinical examination showed a distended abdomen with left hypochondrial pain. Ultrasonogram (USG) and Computed Tomography (CT) of the abdomen showed splenomegaly and grade III splenic injury with significant hemoperitoneum. Her hemoglobin was 2.9 g/dl with packed cell volume (PCV) of 12%. In view of low hemoglobin and possibility of pathologic spleen, splenectomy was done. Microscopic examination of the spleen showed hemangiolymphangioma. The patient was discharged on the 5(th) post-operative day and is doing well at 6 months of follow-up.

Diseases presenting "abdominal pain" symptom

  • 22q11.2 deletion syndrome
  • adrenal incidentaloma
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • focal myositis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma

This symptom has already been validated