Volume 26, Issue 120, February 2022

Neurofibromatosis type – 1 (NF-1) presenting as intracerebral haemorrhage in a young adult- unveiling a rare culprit

Anamika Giri¹, Sourya Acharya², Amol Andhale³, Sunil Kumar⁴, Rohan Kumar Singh⁵, Abhijit Chandankhede⁶

¹Resident, Dept. of Medicine, Jawarharlal Nehru Medical College and Acharya Vinoba Bhave, Sawangi Meghe, Wardha, Maharashtra, India
²Professor and Head, Dept. of Medicine, Jawarharlal Nehru Medical College and Acharya Vinoba Bhave, Sawangi Meghe, Wardha, Maharashtra, India
³Senior Resident, Dept. of Medicine, Jawarharlal Nehru Medical College and Acharya Vinoba Bhave, Sawangi Meghe, Wardha, Maharashtra, India
⁴Professor, Dept. of Medicine, Jawarharlal Nehru Medical College and Acharya Vinoba Bhave, Sawangi Meghe, Wardha, Maharashtra, India
⁵Resident, Dept. of Radiodiagnosis, Jawarharlal Nehru Medical College and Acharya Vinoba Bhave, Sawangi Meghe, Wardha, Maharashtra, India
⁶Asst. Professor, Dept. Of Neurosurgery, Jawarharlal Nehru Medical College and Acharya Vinoba Bhave, Sawangi Meghe, Wardha, Maharashtra, India

ABSTRACT

Neurofibromatosis type I (NF-I) is an autosomal dominant disorder. Epidemiologic data suggests it affects 1 in 3000 individuals. Various vascular abnormalities are reported to be associated with NF-1. Amongst these cerebrovascular anomalies are common in form of vascular stenosis or aneurysms. Arteriovenous malformations of the brain are still rarely found. We present a case of a 24 year old male who presented to this hospital with one episode of generalised tonic clonic seizure. After clinical examination and investigations the diagnosis of intracerebral haemorrhage due to rupture arteriovenous malformation and NF-1 was made. This report highlights the rare association of intracerebral vasculopthy with NF-1.

Keywords: Pectus Excavatum, Neurofibromatosis, Aneurysm

Medical Science, 2022, 26, ms52e2019

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DOI: https://doi.org/10.54905/disssi/v26i120/ms52e2019

Published: 30 January 2022