Case report

A 24-year-old female patient who was diagnosed at birth with double-inlet double-outlet right ventricle, left ventricle hypoplasia, and left atrial isomerism had undergone total cava-pulmonary connection procedure performed at the age of eight. She was admitted with progressive neurological deterioration occurring over a period of 6 months.

She had a normal motor and mental development, a higher educational level, and only suffered from respiratory problems related to hypoxemia until the age of 23. Her first neurologic complaint was a new onset headache which was due to a temporoparietal brain abscess detected on MRI. Antimicrobial treatment including metronidazole, vancomycin, and ceftriaxone was given for the abscess in another hospital. One month later, she started experiencing difficulty walking, pain, and allodynia in her limbs. Diagnostic workup for her pain in the extremities including peripheral arterial and venous Doppler ultrasonography was normal. Electroneuromyographic studies showed sensory and motor axonal polyneuropathy predominant in lower limbs which might be related to ceftriaxone and metronidazole. Therefore, these antibiotherapies were discontinued. In the follow-up period, vancomycin was also stopped because of renal insufficiency and brain abscess was treated surgically with a burr hole aspiration method resulting in clinical and radiological recovery.

After the operation, she was able to walk again without assistance. But 2 months later, she was hospitalised in the ICU because of heart failure treated with vascular stenting applied to the level of pulmonary bifurcation and anastomosis. Afterward, her walking ability and cognitive functions gradually deteriorated over 1 month. On admission to our neurology clinic, neurological examination revealed impaired orientation and cooperation, and attention deficit (with a mini-mental state examination score of 20/28) as well as neck flexion weakness, quadriparesis predominant on the right side with the presence of the Babinski sign, and impaired joint position sense. She was using antiplatelet therapy (acetylsalicylic acid 100 mg per day). Her blood oxygen saturation level was between 83 and 87% without any changes before and after the onset of the symptoms. Furthermore, she was cyanotic and moderately hypertensive.

Brain MRI showed enlargement of cerebral arterial and venous system notably on deep venous structures, expanded perivascular spaces, and diffuse leptomeningeal enhancement following gadolinium injection probably as a consequence of the retarded motion of blood in the enlarged vessels (Fig 1). Cerebral angiography confirmed these findings, showing also the enlargement of the punctured femoral artery. Moreover, a similar enlargement of spinal arteries was seen on cerebral angiography (Fig 2). However, the ophthalmic examination did not find any abnormalities of retinal vessels.

Figure 1.

Intracranial vascular enlargement is seen in T2 weighted (a, b) and diffuse leptomeningeal contrast enhancement in T1 weighted (c, d) magnetic resonance images.

Figure 2.

Enlargement of cranial and spinal vasculature (arrow) is showed by digital subtraction angiography.

Positron emission tomography was also performed to better understand the functionality of the brain parenchyma and showed bilateral hypometabolic activity on the parietal and occipital lobes, predominant on the left side. However, brain perfusion MRI did not detect any hypoperfused area. Furthermore, somatosensorial evoked potential study results revealed an impairment of the posterior cord conduction and autonomic involvement compatible with the presence of myelopathy. Her antiplatelet therapy has been continued with the same dosage and physiotherapy was started to improve functionality. Six months later, the patient experienced an acute ischaemic infarct in the anterior and middle cerebral artery border zone, presenting with an epileptic seizure. She was admitted to another hospital where she died.