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.