Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts

Leukoencephalopathy, cerebral calcifications, and cysts (LCC) form a very rare association which is named as “Labrune syndrome” after Labrune who reported the first case in 1996. To the best of our knowledge only eight to 10 cases have been reported in literature to date. We report a case of a 26-year-old male with onset of neurological symptoms in late adolescence (at 19 years of age) and presented with complains of continued seizures for 7 years, giddiness with imbalance, and slowly progressive motor symptoms. MRI brain revealed multiple calcifications in bilateral basal ganglia, cerebral white matter, multiple cystic lesions in the supratentorial white matter, and abnormal diffused bilateral white matter T2 hyperintensity suggesting leukoencephalopathy. Histopathological evaluation revealed prominent congested blood vessels suggestive of angiomatous changes and cystic areas suggestive of secondary gliosis.

Diffuse necrotising leukoencephalopathy with microhaemorrhages in a patient with severe COVID-19 disease

A wide range of neurological complications of coronavirus disease 2019 (COVID-19) is increasingly recognised. Although the majority of these remain ischaemic and haemorrhagic events, various disorders are being reported. In particular, several cases of diffuse acute leukoencephalopathy have been observed in critically ill patients with COVID-19 disease. We report the case of a 59-year-old man with multiple comorbidities and severe COVID-19 pneumonia who developed a diffuse leukoencephalopathy with microhaemorrhages and extensive associated white matter necrosis. Although this is the first documented case of extensive COVID-19-associated white matter necrosis, we highlight the relatively constant features of this injury similar to previously reported cases, including symmetrical involvement of the supratentorial white matter, sparing of the peripheral subcortical regions except in the precentral gyri, frequently associated microhaemorrhages, relative sparing of the deep gray matter structures and infratentorial structures, and lack of enhancement.

Unilateral, frontal polymicrogyria and supratentorial white matter microcysts in fetus with Joubert syndrome and related disorders: Prenatal diagnosis with magnetic resonance imaging

Introduction. Joubert syndrome (JS) and related disorders (JSRD) are a group of rare multiple congenital anomalies syndromes, defined by complex midbrain-hindbrain malformation that creates the ?molar tooth sign? (MTS) on brain imaging and may be associated with multisystem organ pathology, mainly of the retina, kidney, liver and skeleton. Prenatal diagnosis of JSRD has proved difficult because of the rarity of the condition and low sensitivity of ultrasound in evaluation of the fetal posterior fossa (PF) in most affected fetuses. Case report. We presented an unusual case of JSRD, pure Joubert syndrome with unilateral frontal polymicrogyria and supratentorial white matter microcysts, diagnosed by magnetic resonance imaging (MRI), in fetus aged 30 gestational weeks. The distinctive MRI features of this rare ciliopathy were confirmed by 6-months postnatal MRI study. The postnatal outcome was poor; clinical follow- up in the first 6 months of life confirmed hypotonia, developmental delay, oculomotor apraxia and seizures. Conclusion. To the best of our knowledge, fetal MRI features of the coexistence of pure JS and supratentorial abnormalities leading to postnatal cerebellar dysfunction and epilepsy, have never been reported before. Presented case may contribute to the broadening of the spectrum of sparse prenatal features of JRSD, and support the stand that presence of neuronal migration abnormalities can affect the clinical outcome and prognosis of fetuses with JSRD.

Confusion, dissociation and bizarre behaviour as the onset of an early Susac syndrome

A 47-year-old woman presented an episode of confusion and disorientation. According to remarkable psychiatric records, she had been treated for major depression and obsessive-compulsive disorder; however, no other relevant background was known. After preliminary examinations, blood analysis and neurological tests were unspecific and inconclusive. Therefore, the case was treated as a possible psychiatric episode related to her previous psychiatric disorders. However, due to the atypical presentation of the case, a cerebral MRI was performed, which demonstrated multiple central lesions of the corpus callosum (‘snowball lesions’), as well as several supratentorial white matter lesions. As a result of the follow-up of the case, sensorineural hearing loss and branch retinal artery were detected, which concluded in the classic triad and the confirmation of the diagnosis of a Susac syndrome.

Frequency, Aetiology, and Outcome of Small Cerebellar Infarction

Background and Purpose: Strokes due to small (<2 cm) cerebellar infarction are under-recognised, and their profile and aetiology have not been well characterised. We aimed to determine the frequency, clinical features, aetiology, and outcome of small as compared to large cerebellar infarction. Methods: This study is a retrospective analysis of clinical and imaging features of a prospectively assessed series of 108 consecutive patients with acute cerebellar infarction admitted to Liverpool Hospital, Sydney, NSW, Australia, during 2011–2015. Results: The mean age of the patients was 67 years, and 33 (31%) had small cerebellar infarction. Compared to large cerebellar infarction, those with small cerebellar infarction had a comparable distribution of vascular risk factors but significantly less nausea and vomiting, gait disturbance, limb ataxia, and dysarthria. The posterior (n = 22, 67%) lobe was most commonly affected, followed by the anterior (n = 9, 27%) and flocculonodular (n = 2) lobes. Dizziness, limb ataxia, and nystagmus were significantly more common in patients with anterior lobe infarction. Vertebrobasilar disease was the presumed aetiology in 40 patients (37%), and was less commonly seen in small as compared to large cerebellar infarction. Cardioembolism affected 37% of the patients, irrespective of the size or topography of the cerebellar infarction, and there was no relation of supratentorial white matter lucencies (WMLs) to the size of cerebellar infarction. At 3 months, 65% of the patients were functionally independent (according to modified Rankin Scale scores of 0–2), and having a poor outcome was significantly related to moderate-to-severe supratentorial WML and large cerebellar infarction. Conclusions: Small cerebellar infarction accounted for one-third of the ischaemic strokes in this location, most often involved the posterior lobe, causing fewer clinical features, and had a better clinical outcome than large cerebellar infarction. Patients with small cerebellar infarction require appropriate vascular management including investigation for a cardioembolic source.