Intracranial hypertension in a patient with Hutchinson-Gilford progeria syndrome.

Hutchinson-Gilford syndrome, also known as progeria, is a rare genetic disorder that causes premature and accelerated ageing from the neonatal period. The disease is caused by de novo mutations in the LMNA gene. Patients present with a range of symptoms, including skin, bone, joint and cardiac disorders, as well as characteristic facial dysmorphia. Intracranial hypertension is not a known symptom of this disease. To the best of our knowledge, no case of a patient with Hutchinson-Gilford syndrome presenting with intracranial hypertension without a traumatic context has been reported in the literature to date. This report presents the case of a child diagnosed with Hutchinson-Gilford syndrome who presented with intracranial hypertension at the age of three years, with no secondary cause identified. Long-term treatment with acetazolamide was required to control the intracranial hypertension. We hypothesise that the intracranial hypertension may be related to vascular abnormalities observed in Hutchinson-Gilford syndrome, which may cause a venous drainage dysfunction. To support the hypothesis of a non-random association between intracranial hypertension and Hutchinson-Gilford syndrome, further reports of similar cases in children with the syndrome are required.