Spontaneous retroperitoneal hemorrhage in Menkes disease

Abstract

Rationale:Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Intracranial hemorrhage secondary to tortuous intracranial arteries is a well-known complication of MD, but spontaneous retroperitoneal hemorrhage, to the best of our knowledge, has never been reported in a patient with MD. Herein, we describe the first case of retroperitoneal hematoma as a complication of MD in a 4-year-old boy.Patient concerns:A 4-year-old Taiwanese male patient with MD was referred to the hospital and presented with a palpable epigastric mass.Diagnoses:On the basis of the findings of ultrasonography and enhanced computed tomography, the diagnosis was retroperitoneal hematoma.Interventions:Interventions included laparotomy with evacuation of the hematoma, manual compression, and suture of the bleeding vessels.Outcomes:There were no postoperative complications.Lessons:This case emphasizes that bleeding in patients with MD is possible at any site in the body owing to the unstable structure of the connective tissues. Timely diagnosis with proper imaging studies can lead to prompt and appropriate management and save patients from this life-threatening condition.

Retroperitoneal Hematoma after Birth due to Iliac Vascular Injury: a Case Report and Review of Literature

“…RPH may occur during pregnancy and puerperium as a result of rupture of one of the retroperitoneal arteries and also because of coagulation disorders, Ehlers Danlos syndrome and hepatic rupture [2][3][4][5]. Although RPHs occur mostly after trauma, they may also develop spontaneously.…”

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease

“…Jankov et al 5 reported a similar case of a male neonate who also presented in extremis due to rupture of an iliac aneurysm with no prior diagnosis of MD. Peng et al 6 described the case of a 4-year-old boy with a known diagnosis of MD, who presented with spontaneous retroperitoneal hemorrhage secondary to bleeding of multiple friable and tortuous abdominal blood vessels. In the first 2 cases, the unusual and acute nature of the presentations combined with, perhaps, limited awareness made the diagnosis of MD unclear until autopsy examination and genetic examination confirmed the diagnosis.…”

“…Color Doppler ultrasonography can also be used to map blood vessels and assess blood flow within them. 6 Computed tomography (CT) and/or magnetic resonance imaging (MRI) angiography can then be considered, as they provide further detail; however, CT involves irradiation and MRI is not as widely available as US or CT.…”

“…In the first 2 cases, the unusual and acute nature of the presentations combined with, perhaps, limited awareness made the diagnosis of MD unclear until autopsy examination and genetic examination confirmed the diagnosis. Successful treatment was possible in Peng et al.’s case 6 due to a prior diagnosis of MD, smaller bleeding vessels, timely diagnosis, and emergent intervention.…”

ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle

“…LMAN1 receptor complex defects cause combined FV+VIII deficiency and mild coagulation disorder [ 90 ], underlining importance of mannose binding lectins in glycosylated protein trafficking. LMAN1 is a collectin requiring LOX activation, and in MNK low hepatic copper can affect maturation and trafficking leading to mild clotting deficiency [ 91 ].…”