Operative management of splenic injury in a patient with 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.

INTRODUCTION

Proteus syndrome is a hamartomatous disorder consisting of disproportionate, asymmetric overgrowth of body parts, malformations of the capillary, venous and lymphatic types, and dysregulated adipose tissue. Disproportionate overgrowth and giant hemangiomas have also been reported to involve the viscera such as spleen.[12] We hereby present a case of traumatic injury to a pathologic spleen in a patient of Proteus syndrome. The decision-making with regard to surgery or non-operative management in such unusual cases of splenic injury is complicated due to the possibility of pathology in spleen with high chances of bleeding.

CASE REPORT

A 20-year-old female, a known case of Proteus syndrome, presented four days after fall from a bike. She was referred to our level I trauma center after being managed non-operatively for three days at a different hospital in view of increasing abdominal distention and pain. The exact details of the treatment given were not available. On admission in the Emergency Department (ED), her pulse rate was 120 per minute and blood pressure was 108/68 mm Hg. Abdominal examination revealed significant distention with tenderness over the left hypochondrium without rebound tenderness or guarding. The general physical examination was remarkable for the manifestations of Proteus syndrome that included arteriovenous malformations and hemihypertrophy of her left leg with multiple lipomas over the abdomen [Figure 1]. Her hemoglobin was 2.9 g/dl with packed cell volume (PCV) of 12%, platelet count of 1,08,000 cells/cubic mm, and PT-INR of 1.29. Ultrasonogram (USG) of the abdomen showed a moderately enlarged spleen with cystic reticulated appearance. Contrast-enhanced tomography (CECT) of the abdomen showed a non-enhancing enlarged spleen of size 17 cm × 15 cm × 10 cm [Figure 2], massive hemoperitoneum with normal liver and kidney with no leakage of the contrast. In view of low hemoglobin and possibility of pathologic spleen, splenectomy was done. Intra-operative findings included an enlarged spleen with 3 cm laceration along the lower pole and 2 liter of hemoperitoneum. Her Injury Severity Score (ISS) was 9 (3 for splenic injury). Pathological examination showed an enlarged spleen of size 17 cm × 15 cm × 10 cm with spongy cut surface, weighing 230 gm. Histological examination showed multiple vascular spaces lined by single flattened layer of endothelium filled with fibrin and red blood cells, suggesting a hemangiolymphangioma [Figure 3]. She required 5 units of blood transfusion in the peri-operative period, and her hemoglobin increased to 8.7 gm% with a hematocrit of 30%, platelet count of 1,30,000 cells/cubic mm, and PT-INR of 1.20. She was discharged on the 5th post-operative day and is doing well at 6 months of follow-up.

Figure 1

Disproportionate growth of toes with vascular malformations

Figure 2

CECT scan of the abdomen showing enlarged spleen

Figure 3

H and E ×400 showing multiple cystic spaces lined by flattened endothelial cells, filled with eosinophilic material and blood, separated by fibrous stroma, extensively replacing the splenic architecture

DISCUSSION

Proteus syndrome, first described by Cohen and Hayden in 1979, is a congenital dysplasia syndrome of patchy, irregular overgrowth of multiple body tissues and cell lineages arising from a mosaic mutation.[3] It was named by Wiedemann et al. in 1983 after the Greek god Proteus who could change his form at will. Most cases are sporadic, and chromosome analysis is normal. Around 200 cases have only been reported worldwide till now. Once thought to have neurofibromatosis, Joseph Merrick (also known as “the elephant man” and studied by Treves in the 1800s) is now, in retrospect, thought by clinical experts to actually have had Proteus syndrome. Common findings are hemihypertrophy, subcutaneous and visceral hamartomatous tumors, pigmented nevi and exostoses. Vertebral hypertrophy and spinal cord involvement have been reported rarely.[4] Partial gigantism with limb or digital overgrowth is pathognomonic, with an unusual body habitus and, often, cerebriform thickening of the soles of the feet may be present. The patient in our discussion had hemihypertrophy and vascular malformations over the left lower extremity with digital overgrowth and multiple lipomas over the abdomen. Klippel-Trenauny syndrome (KTS) has often been confused with Proteus syndrome. KTS is characterized by vascular malformations, unusual varicosities, and asymmetric enlargement of the limbs, whereas in Proteus syndrome, vertebral, visceral malformations, and other malformations can occur independent of vascular malformations.

Presence of vascular tumors is one of the constant features in Proteus syndrome. Vascular tumors observed in Proteus syndrome differ significantly from the classical hemangiomas. Classical hemangiomas are often present at birth and regress spontaneously while in Proteus syndrome, they appear after birth and grow gradually. These vascular malformations are larger, softer, and more disseminated with histopathology showing variable portions of vascular, lymphatic, and organ tissue.[2] Giant hemangiomas in spleen, causing Kasabach-Merritt syndrome and chronic DIC have been reported in Proteus syndrome.[25] Spontaneous rupture is a risk with such large hemangiomas and occurs in about 25% of such cases. Magnetic resonance (MR) imaging is more sensitive and specific than other modalities in the diagnosis of splenic hemangioma.[6] In our case, spleen was grossly enlarged with USG and CT scan showing multiple cystic spaces raising the possibility of vascular malformations.

Non-operative management is currently being advocated in the management of splenic injury if the following criteria are satisfied- hemodynamic stability (systolic blood pressure >90 mmHg is generally accepted), blunt abdominal injury, absence of associated intestinal injuries, normal level of consciousness, and 24 hour availability of trauma surgeons. A case of non-operative management of splenic injury in a patient with Proteus syndrome complicated with Kasabach-Merritt syndrome has been reported[7] where a 23-year-old male suffered a grade III injury after a fall from a horse and was successfully managed with embolization of splenic artery. In our case, the patient presented after being managed non-operatively for three days. Delayed splenic rupture could be one of the possible reasons for late deterioration. In view of enlarged spleen with cystic spaces raising suspicions of giant hemangiomas, progressively increasing abdominal distention with pain, operative management was considered appropriate. Splenectomy was performed, and the pathological examination showed hemangiolymphangioma. Splenectomy was sufficient in its management, and no further treatment was required. Two other cases of Proteus syndrome involving pubic fractures and recurrent clavicular fractures following trauma have been reported.[89]

CONCLUSION

We suggest that non-operative management (NOM) should be abandoned, and operative management should be undertaken in splenic trauma if there is some pre-existing splenic pathology (like in our case splenomegaly with possibility of splenic hemangioma) along with evidence of hemorrhage or infarction of spleen or significant abdominal pain. NOM may still be tried in pathological spleen with trauma if the injury is minimal (AAST grade I injury) with no significant hemorrhage, abdominal pain, and at no time, the patient had been under hemorrhagic shock/hypotension.