Isolated leptomeningeal angiomatosis in the sixth decade of life, an adulthood variant of Sturge Weber Syndrome (Type III): role of advanced Magnetic Resonance Imaging and Digital Subtraction Angiography in diagnosis

Abstract

Background Sturge-Weber syndrome (SWS) is primarily diagnosed in pediatric population, but clinical presentation in late adulthood is rarely reported. Evolution of radiological findings in the adulthood variant of SWS with isolated leptomeningeal angiomatosis has never been reported to our knowledge. Case presentation We report here a case of an isolated temporo-parieto-occipital leptomeningeal angiomatosis on the right cerebral hemisphere in a sixty-two-year-old male who presented with generalized seizure, GCS score 14/15 (E4 V4 M6) with equal and reacting pupils, psychomotor slowing, left hemineglect and grade 4 power in the left upper and lower limbs. Over a period of 48 h his neurological status deteriorated, but recovered spontaneously over a week on titration with anticonvulsants. He had a prior history of treatment for focal leptomeningitis, three years ago. Cerebrospinal fluid (CSF) analysis showed glucose of 75 mg/dL, proteins of 65 mg/dL and culture grew no organisms. On follow-up, he had intermittent episodes of focal seizure for two years. Initial, computed tomography of brain showed hyperdense lesion in the parieto-occipital convexity subarachnoid space on the right cerebral hemisphere mimicking subarachnoid hemorrhage and computed tomography angiography showed no significant abnormality. Magnetic resonance imaging (MRI) of brain showed intense pial enhancement in the right temporo-parieto-occipital region with a subtle T2W hyperintense signal in the underlying subcortical white matter without edema or infarct or mass effect. Digital subtraction cerebral angiography (DSA) showed hypertrophy of the cerebral arteries, arteriolo-capillary bed and venules in the right temporo-parieto-occipital territory associated with early arterio-capillary and venous opacification. Serial MRI done after six months, one and two years showed increase in the T2W hyperintense signal in the subcortical white matter and cortical atrophy with no changes in the pial enhancement. MR perfusion imaging showed reduced cerebral blood flow (CBF) and cerebral blood volume (CBV) in the right parieto-temporo-occipital cortical and subcortical regions and increased perfusion in the leptomeninges with reduction of the NAA / Cr ratios in spectroscopy. Conclusion Conglomeration of various radiological findings in MRI, Perfusion, MRS and DSA with the clinical presentation can aid in establishing the diagnosis of this rare presentation of SWS-type 3 variant in late adulthood.

Clinical Reasoning: Drug Resistant Epilepsy in a 61-Year-Old Man With Abnormal MRI Brain Findings and Management With Vagal Nerve Stimulator

“…[1][2][3][4] It is very rarely seen in later life. 5 It is believed to be caused by abnormal persistence of embryonic venous plexus near the ectoderm that was destined to form venous drainage of the occipital and parietal region of the brain and facial skin. 3,4 The low-flow angiomata in SWS are at risk of thrombosis and calcification, which eventually lead to ischemia and gliosis of surrounding nervous tissue and atrophy.…”

“…To our knowledge, there are few cases reported that have been diagnosed at a later age. 5 Brain MRI without contrast may not show leptomeningeal angioma at times, and contrast imaging is very important in patients suffering from seizures to achieve a good diagnosis. 2,4,5 Cerebral calcifications can be seen on brain MRI in patients with encephalitis, purulent meningitis, celiac disease, leukemia, and ossifying meningoencephalopathy, and hence, appropriate investigations including CSF analysis and cerebral angiography are advised.…”

“…5 Brain MRI without contrast may not show leptomeningeal angioma at times, and contrast imaging is very important in patients suffering from seizures to achieve a good diagnosis. 2,4,5 Cerebral calcifications can be seen on brain MRI in patients with encephalitis, purulent meningitis, celiac disease, leukemia, and ossifying meningoencephalopathy, and hence, appropriate investigations including CSF analysis and cerebral angiography are advised. 1,4,6 With this syndrome, 75%-90% of the patients may suffer from epilepsy; diagnosis of type III SWS requires a high index of suspicion.…”

“…1,8,9 The late diagnosis and poor control of seizures may lead to surrounding atrophy and cognitive decline in patients. 5,9 Patients with ≤2 seizures in 6-month duration are considered to have a good seizure control. 10 Patients with seizures which are resistant to ≥2 antiseizure medications should be referred to an epileptologist and should be admitted to the epilepsy monitoring unit for better characterization of seizures and medication optimization.…”

“…10,11 It is commonly diagnosed in neonates and rarely found later in life. There are only few case reports describing the diagnosis of this syndrome in the 5 th and 6 th decade of life 9 Patients with seizure freedom more than 6 months at a time are considered to have a good seizure control, which is noted in 60-70% of patients with anti-seizure medications. 3…”