Primary splenic involvement in kaposiform lymphangiomatosis: A case report

Abstract

Introduction

Kaposiform Lymphangiomatosis (KLA) is a rare, pathologically distinct lymphatic anomaly characterized by abnormal lymphatic channel malformation and a high mortality rate. Previous studies describe primary thoracic involvement.

Presentation of case

A previously healthy eighteen-month-old female presented to the pediatric emergency department with sudden onset of petechiae and bruising. Initial CBC demonstrated profound anemia and thrombocytopenia with rapid progression to disseminated intravascular coagulopathy. The child was admitted to the pediatric ICU where hematologic workup included a bone marrow biopsy negative for leukemia and a negative infectious workup. Pediatric Surgery was consulted for splenomegaly with concern for primary splenic process and consumptive coagulopathy. She underwent emergent splenectomy and following operative intervention her clinical status stabilized with rapid resolution of the coagulopathy and thrombocytopenia. Pathologic evaluation of the spleen confirmed the diagnosis of KLA. Subsequent workup failed to reveal any thoracic or mediastinal involvement of KLA.

Discussion

Although splenic involvement has been described in patients with KLA, according to the published literature, the significant lesions exist in the thoracic cavity. To our knowledge, this is the first reported case of severe consumptive coagulopathy from KLA isolated to the spleen.

Conclusion

Although rare, KLA should be considered early in the diagnosis of a patient presenting with sudden onset of profound thrombocytopenia and coagulopathy.

Highlights

• •Kaposiform lymphangiomatosis (KLA) is a rare lymphatic anomaly that is associated with a high mortality.
• •Morbidity and mortality from KLA stems from pleural and pericardial effusions as well as consumptive coagulopathy.
• •We demonstrate the first reported case of KLA isolated to the spleen with consumptive coagulopathy that resolved following splenectomy.

1. Introduction

Kaposiform lymphangiomatosis (KLA) is a rare, pathologically distinct lymphatic anomaly first described in 2014. Symptoms primarily include new onset dyspnea, cough, or hemorrhage [1]. Previous case series and reports on KLA that the lesions are predominantly in the thorax and mediastinum although there are several reports of concomitant skeletal and splenic involvement [[1], [2], [3], [4]]. We report a child with massive splenomegaly secondary to isolated KLA. This manuscript was prepared following SCARE guidelines [4].

2. Presentation of case

Our patient was a previously healthy eighteen-month-old Caucasian female with no past medical history. She was unvaccinated at the time of illness. She had no relevant family medical history. She was brought to the pediatric emergency department at our institution by her mother because of lethargy and new onset of diffuse petechiae and bruising. The patient's mother denied any signs of external bleeding, including bloody stools, or epistaxis. She also denied any previous episodes similar to this. Initial complete blood count revealed profound anemia (Hemoglobin 3.4 g/dL) and thrombocytopenia (Platelet count 8000 K/uL); follow up coagulation studies demonstrated PT 47 s, INR 5.0, PTT 66 s, and fibrinogen <60 mg/dL. Her physical exam was notable for tachycardia, abdominal distension and petechiae. Pediatric Hematology/Oncology was consulted and she was admitted directly to the Pediatric Intensive Care Unit (PICU). Initial evaluation was broad and included infectious and oncologic workup. The infectious workup was negative for bacterial or viral etiology and bone marrow biopsy with flow cytometry was also negative. The patient continued to suffer from multiple blood dyscrasias that were non-responsive to blood product resuscitation. On day four of the patient's hospitalization, an abdominal ultrasound was performed to determine the source of ongoing abdominal distention. This ultrasound showed massive splenomegaly prompting Pediatric Surgery consult. It was determined that the patient was suffering from a primary splenic consumptive coagulopathy and decision was made to proceed with emergent open splenectomy.

Upon induction of anesthesia Prothrombin Complex Concentrate was administered to treat the coagulopathy. Splenectomy was performed using a stapler across the hilum and except for spleen sequestered blood, minimal blood loss was encountered (Fig. 1). A small accessory spleen was also identified and subsequently removed. She was transported back to the PICU in stable condition for post-operative resuscitation. The estimated blood loss was approximately 310 mL, with 300 mL thought to be sequestered within the spleen.

Fig. 1.

Splenectomy was performed using a stapler across the hilum.

On the first postoperative day the patient's multiple blood dyscrasias had resolved and her coagulation studies were within normal limits (Table 1). Blood product resuscitation was subsequently stopped. PET scan was performed on postoperative day 1 and revealed no increased tissue avidity or radiographic evidence to suggest residual disease. The patient was subsequently discharged home on postoperative day 5. Pathology of the spleen subsequently came back as Kaposiform Lymphangiomatosis with positive staining for NRAS Q61R. Vaccination regimens for Neisseria meningitidis, Streptococcus pneumoniae, Haemophiles Influenzae were initiated on POD#4 and continued as directed by pediatric infectious disease; in addition, oral penicillin therapy was initiated after discharge with recommendation to continue until the child reaches 5 years of age.

Table 1.

Summary of Relevant Laboratory Studies.

	Initial	HD 1	HD 2	HD 3	OR	POD 1	POD 2	POD 3	1 Year
Hemoglobin	3.8	5.3	5.6	6.5	5.9	10.3	9.6	10.4	10.4
Platelets	10	11	8	8	14	250	250	1082	449
PT/INR	47/5.0	41/4.1	32/3.0	27/2.0	47/5.0	14/1.0	14.5/1.1	14.6/1.1	13.3/1.0
PTT	66	55	52	48	67	26	27	31	30
Fibrinogen	<60	<60	<60	<60	<60	278	313	327	242

HD = hospital day, OR = operating room, POD = post operative day.

She has had no significant post-operative sequelae at one year follow-up; bloodwork has been normal and follow-up CT scans of her chest, abdomen, and pelvis have shown no further disease.

3. Discussion

The case that we present differs from all other previously reported cases of Kaposiform Lymphangiomatosis for many reasons. Previously reported cases demonstrate lesions in the chest with some reports of concomitant lesions in the spleen and skeletal system. In general, the presenting features are respiratory-related symptoms, such as acute development of dyspnea and hemorrhage, although there are reports of consumptive coagulopathy [[1], [2], [3], [4]]. These patients have also consistently demonstrated pleural of pericardial effusions requiring drainage. The major difference in our patient is there has been no thoracic or mediastinal involvement identified in our patient to date. Our patient has had repeat imaging studies with no evidence of thoracic involvement, nor any evidence of pericardial or pleural effusion.

This case required surgical treatment for its unique presentation. Based upon our literature review, the treatment of KLA is predominantly medical therapy with surgical involvement reserved for recalcitrant cases. Medical management has included immunomodulators such as sirolimus, corticosteroids, Interferon-a, and Vincristine all with varied response [3,[5], [6], [7]]. Reports of surgical management include pleurodesis, thoracic duct ligation, and resection [1,2]. There are two reported cases of mediastinal resection reported by Croteau, et al. which had significant morbidity; one child required long term drainage of a persistent chylothorax and the other child required extracorporeal membrane oxygenation and ultimately expired [1]. Given that our patient was suffering from a consumptive coagulopathy from a primarily splenic process, our curative treatment of splenectomy alone is unique. The only other case report of primary splenic KLA was presented by Suárez-Vilela et al. and the patient unfortunately did not survive because of massive peripancreatic and perisplenic hemorrhage [8]. The finding that our patient has had no ongoing evidence of disease, either by laboratory findings or follow up imaging, following splenectomy is remarkable and points to resection as the treatment of choice for patients with splenic involvement.

4. Conclusion

Kaposiform Lymphangiomatosis is a rare disease usually presenting with respiratory distress or coagulopathy. In patients with coagulopathy and concern for splenic involvement, splenectomy is the most definitive treatment option.

Consent

Written informed consent was obtained from the patient's parents/legal guardian for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request. All authors attest that they meet the current ICJME criteria for Authorship.

Ethical approval

XXXXX XXXXX IRB policies state that case reports do not meet the definition for human subjects research, and has deemed this case report “not research”.

Guarantor

Dr. Robert Gates (Robert.gates@prismahealth.org)

Sources of funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Declaration of competing interest

The authors have no conflicts of interest to disclose.