Sturge-Weber Syndrome: A Case Report in a 39 Yr- Old Man with Delayed Diagnosis

Case Report

Austin J Clin Neurol 2015;2(6): 1049.

Sturge-Weber Syndrome: A Case Report in a 39 Yr- Old Man with Delayed Diagnosis

MUSTAPHA Adekunle Fatai¹*, ADEBANJO Oluyemi Mary² and ADEBIMPE Oluwafisayo Adenike³

¹Department of Medicine, Division of Neurology, Ladoke Akintola University of Technology, Nigeria

²Department of Medicine, LAUTECH Teaching Hospital, Nigeria

³Department of Behavioural Sciences, LAUTECH Teaching Hospital, Nigeria

*Corresponding author: Mustapha Adekunle Fatai, Department of Medicine, Division of Neurology, Ladoke Akintola University of Technology (LAUTECH) Teaching Hospital, Osogbo Osun state, Nigeria

Received: April 07, 2015; Accepted: May 10, 2015; Published: May 17, 2015

Abstract

Sturge Weber Syndrome is a rare neurocutaneous disease characterized by facial port-wine stain, ocular abnormalities (glaucoma and choroidal haemangioma), and leptomeningeal angioma most often involving the occipital and posterior parietal lobes. This syndrome consists of a constellation of clinical features such as a facial neavus, seizures, hemiparesis, intracranial calcifications and mental retardation. We report a 39 year old cobbler who presented at the neurology clinic of LAUTECH Teaching Hospital Osogbo Nigeria on account of recurrent generalized seizures and learning difficulties since childhood. On examination, he had a right hyperpigmented periorbital patch with chemosis and complete visual loss in the right eye.

Electroencephalography (EEG) revealed generalized epileptiform activity and brain CT scan yielded multiple cerebral calcifications in keeping with Sturge Weber Syndrome. Patient is currently on carbamazepine, Folic acid and Cognitol and seizure control has improved remarkably and is being followed up at our out-patient clinic.

Keywords: Sturge Weber syndrome; Angioma; Seizure; Mental retardation

Introduction

Sturge-Weber syndrome, also known as encephalotrigerminal angiomatosis is a rare neurocutaneous disease characterized by facial port-wine stain, leptomeningeal angioma with or without glaucoma [1].

The Syndrome can be classified into 3 according to Roach Scale.

Type I – Facial and leptomeningeal angioma. Patient may have glaucoma.

Type II – Facial angioma only (without CNS involvement). Patient may have glaucoma

Type III – Leptomeningeal angioma only, usually without glaucoma.

Sturge Weber Syndrome (SWS) was first described by Schirmer in 1860 and later more comprehensively by Sturge in 1879, who associated dermatological and ophthalmological changes of the disease to the neurological manifestations. Weber complemented it with the documentation of radiologic findings seen in these patients [2]. It has a frequency of 1:50,000 live births [3]. It occurs sporadically all over the world and cuts across racial, gender and age divides. There are few hospital reports about this disease from Nigeria.

Case Presentation

A 39yr-old man was brought to the neurology clinic of LAUTECH Teaching Hospital Osogbo Nigeria by the mother in late 2012, on account of a history of recurrent generalized seizure and learning difficulties since childhood.

Seizure started before his first birthday, with frequency of one episode per day. The seizures were initially atonic but as he grew up, they became characterized by abnormal behavior such as being dazed, fidgeting with objects or running aimlessly around the house. These manifestations evolved over time to generalized tonic-clonic seizures preceded by loud cries and associated with tongue biting, foaming from the mouth and recurrent falls. The seizure frequency was about 2-3 per week and lasted about 2-3 minutes a few months prior to presentation and patient usually had postictal weakness and occasional urinary incontinence. He was treated with traditional medicine without much success. He suffered several burns injury as a result of the seizure as well as several episodes of tooth loss. He dropped out of school while in junior secondary school due to learning difficulty and poor academic performance. He has since found it difficult to learn a trade and has settled down to be a parttime shoe repairer. He had no history of hemiparesis, recurrent headaches or oral abnormalities of note, is the pregnancy history of the mother who took several unspecified drugs to abort the pregnancy that resulted into his birth owing to an existing large family size.

He was born with a port-wine stain around the right eye. The stain gradually became darker as he grew older. The right eye was also noticed to be bulging out as he was growing up and becoming red in the process. He lost vision in the same eye at age of 7.

On examination, he had a barely visible hyperpigmented patch in the distribution of ophthalmic branch of right trigeminal nerve as shown in Figure 1 and a nevus on the medial aspect of the right arm as seen in Figure 2. He also had several keloid scars on his trunk as depicted in Figure 3.