Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease expands and as more cases are identified. Here, we report the oldest known individual succumbing to NAXD-related neurometabolic crisis, at 32 years of age.

Incidentally Identified Pulmonary AVM: An Unusual Cause for Stroke in a Young Patient.

Pulmonary arteriovenous malformation is an uncommon though important potential source for embolic right-to-left extracardiac shunt as a cause for both silent and clinically evident stroke. We present this case to highlight this pathology as a cause for stroke, the importance of treating this malformation, even if incidentally identified, and finally the role of echocardiography in screening for extracardiac shunt and indicating those patients that may benefit from further investigations looking for extracardiac shunt.

Adjuvant immunosuppression for paradoxical deterioration in tuberculous meningitis including one case responsive to cyclosporine. A tertiary referral hospital experience.

Background: Tuberculous meningitis (TBM) accounts for 1-4% of all tuberculosis (TB) presentations. Paradoxical deterioration in non-HIV patients is a common manifestation of anti-tuberculosis therapy, characterised by clinico-radiological deterioration. We report a case series of TBM admissions to our institution including one case with paradoxical deterioration refractory to corticosteroids who responded to adjuvant cyclosporine.

Nontraumatic spinal cord ischaemic syndrome.

This study presents the clinical features and functional outcomes of eight consecutive patients who were admitted to our institution between 2012 and 2014 with nontraumatic spinal cord infarction (SCI), a rare and devastating condition. We also present a literature review of aetiologies and prognostic factors relevant to our case series. The mean age of our cohort was 64 years and five patients were female.

Acute dysphasia and reversible cognitive decline in a patient with probable cerebral amyloid angiopathy-related inflammation.

Cerebral amyloid angiopathy related inflammation (CAAri) is becoming increasingly recognised as a subset of cerebral amyloid angiopathy (CAA). CAAri generally presents with subacute cognitive decline, headaches, seizures, behavioral changes, and focal neurological deficits. We describe a patient who developed acute dysphasia and reversible cognitive decline due to probable CAAri.