Case presentation
We report two dichorionic diamniotic twins from a first-degree consanguineous couple with no pathological familial medical. The pregnancy was carried out at term and without incident. The elder sister is 11 years old and in good health. At 17 months, twin A developed hemiplegia and blindness for 04 weeks.
Brain imaging showed ischemic stroke, and further etiological investigation could not identify the origin of this event. Yet, the evolution was good with restoring the motor function and vision, and the patient was discharged. Between 17 months and 06 years, both twins were lost from sight. At the age of 06, the second twin B, was hospitalized for a severe urinary infection. Investigations showed bilateral nephrocalcinosis, severe hypokalemia, and elevated blood pressure. Clinical examination, lab tests, and imaging were carried out for the second sister (A), who had a history of stroke.
They also revealed hypokalemia, nephrocalcinosis, and the existence of hypertension. Creatinine clearance for both sisters was under the normal limit, indicating kidney failure.
The treatment of both patients was based on amiloride, hydrochlorothiazide, and potassium supplementation.
An echocardiogram and fundus examination were requested to assess the impact of hypertension, and they were normal in both patients. During the follow-up, twin B had recurrent urinary tract infections. Retrograde urethrocystography showed bilateral vesicoureteral reflux (VUR) grade 3. Renal scintigraphy was recommended, and the patient has been referred to the surgeon to discuss the necessity of surgical treatment. A genetic study on twin B was consistent with Ulick syndrome. Figure 1  demonstrated the exact pathophysiology of AME, while Figure 2  showed the type of AME’s inheritance as a family pedigree.