BACKGROUND

Spinocerebellar Ataxia (SCA) represents a rare and heterogeneous group of neurodegenerative disorders, typically characterized by the progressive loss of coordination of movement, resulting primarily from cerebellar dysfunction. This case report discusses the history, clinical presentation, and diagnostic findings of a patient who exhibited symptoms suggestive of SCA. Given the notable familial pattern, further evaluation was undertaken using genetic testing. The objective of this paper is to present the clinical, genetic findings, and inheritance pattern of a patient and her family with SCA.

CASE PRESENTATION

Our case is a 36-year-old Filipino female with progressive cerebellar dysfunction for over a decade. Cranial Magnetic Resonance Imaging (MRI) revealed bilateral cerebellar atrophy. Genetic testing identified a Variant of Uncertain Significance (VUS) in the inositol 1,4,5- triphosphate receptor type 1 (ITPR1) gene, a finding consistent with Spinocerebellar Ataxia type 15 (SCA 15). This represents the first reported case of SCA 15 in the Philippines and in Asia.

A detailed pedigree assessment revealed that 18 immediate and extended family members had similar symptoms suggestive of hereditary ataxia. Ten relatives had already passed away, and four could not be contacted for further evaluation. Three available family members were examined and likewise demonstrated comparable cerebellar findings, supporting a familial pattern of the disease.

CONCLUSION

The findings from this case series suggest that SCA 15 may be present in Filipino families, with an autosomal dominant (AD) inheritance pattern. While no data on the prevalence or incidence of SCA15 in the Philippines currently exists, this report calls attention to the need for further research and genetic studies within the Filipino population.

Human ; Female ; Adult: 25-44 Yrs Old ; Spinocerebellar Ataxias ; Ataxia ; Mutation ; Genes ; Asia

Carotid-cavernous fistula (CCF) is a rare and dangerous neurological disorder that arises due to an abnormal communication between the internal carotid artery (ICA) or the external carotid artery (ECA) and their branches and the cavernous sinus. It can either be a direct fistula (high-flow with acute symptoms) most commonly resulting from trauma (70-90%) or an indirect fistula (low-flow with insidious symptoms) secondary to hypertension, atherosclerosis and collagen vascular disorders. The shunting of arterial blood into the venous system leads to venous hypertension causing various clinical manifestations depending on the venous drainage patterns and the shunt flow. Increased anterior, posterior and superior venous drainage results to orbital/ocular, cavernous and cortical symptomatology, respectively. This paper aims to present a case of 58-year old Filipino female with a 2-day history of sudden, severe headache, vomiting and blurring of vision followed by decrease in sensorium and sudden proptosis and chemosis of the left eye. Patient had no co-morbidities, history of trauma, surgeries, facial skin infections or prior febrile illness. The left eye had exophthalmos, subconjunctival hyperemia, scleral edema/chemosis and ocular bruit. Neurologic examination showed a stuporous patient with multiple cranial nerve deficits (impaired direct and consensual pupillary reflex left, complete ptosis left, sluggish corneal reflex left, impaired oculocephalic reflex left), right hemiplegia and meningeal signs. Cranial Computed Tomography (CT) Angiogram revealed an acute parenchymal hemorrhage in the left frontotemporal lobe with subarachnoid component, with engorged left cavernous sinus and dilated left superior ophthalmic vein. Digital Subtraction Angiography (DSA) was done revealing a direct type of left carotid-cavernous fistula with massive ICA shunting to the cavernous sinus, superior ophthalmic vein and inferior petrosal sinus. The clinical and radiographic evidence were consistent with a Direct/Type A CCF. Unique in this case was a patient with no history of trauma presenting with simultaneous orbital/ocular, cavernous and cortical symptomatology – a clinical picture of CCF that has never been documented in any literature nor included in any classification system. The presence of all three symptomatology can be explained by a direct/highflow fistula that resulted to increased anterior, posterior and superior venous drainage as documented in the DSA. In addition, spontaneous intracranial hemorrhage in CCF is exceptionally rare and it is the most daunting symptomatology of this disease. With that, this specific case may pave the way to a new classification scheme and determine its corresponding treatment approach.
Carotid-Cavernous Sinus Fistula ; Cavernous Sinus