Rationale:
Marfan syndrome (MFS) is a genetic disorder of the connective tissue. MFS has an incidence of about 2 to 3 persons per 10,000 population. MFS is characterized majorly by the involvement of the eyes, skeletal muscles, and cardiovascular system. There are limited case reports of co-existence of MFS and type 2 diabetes mellitus (T2DM).
Patient concerns:
A 16-year-old male patient who got admitted to our hospital with complaints of loss of vision from left eye for the last 3 days.Diagnosis of MFS along with luxation of left eye lens, and T2DM were made according to the patient's symptoms, signs, biochemical results, and ultrasonography.
Interventions:
The patient received "vitrectomy (posterior approach (left eye)) + cataract extraction (left eye) + intraocular lens implantation (left eye) surgery" for luxation of left eye lens. The patient received "Bentall Operation" for MFS, and was prescribed warfarin 5 mg qod and spironolactone 20 mg bid during the follow-up period. The patient received continuous subcutaneous insulin infusion (CSII) during hospitalization, and then changed to insulin glargine preparation during the follow-up period.
Outcomes:
The vision was restored after the eye surgery and the patient also recovered well after the Bentall Operation. Additionally, there were no obvious complications during hospitalization and the follow-up period. Blood glucose levels were within normal range.
Lessons:
There is a need to improve the recognition of MFS among school and community doctors. Early detection, diagnosis, and treatment of this rare disease can improve the quality of patient's life.