Tarun Mathur

‘Hot cross bun’ sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation

We report a 25-year-old young man presenting with cognitive decline, pancerebellar features, spastic quadriparesis, bilateral cataract (operated) and tendo-Achilles swelling (xanthoma). The CT of the head showed bilateral cerebellar hypodensities. There were bilateral cerebellar hypointensities involving dentate nuclei on T1-weighted images with corresponding hyperintensities on T2-weighted MRI. Additionally, an interesting MRI finding—‘hot cross bun’ appearance was seen in pons which has not been reported in the literature so far. Biopsy from tendo-Achilles confirmed xanthoma. He was treated with chenodeoxycholic acid following which he showed improvement in cognition and weakness.

Primary intraventricular hemorrhage: Clinical features, risk factors, etiology, and yield of diagnostic cerebral angiography

BACKGROUND Primary intraventricular hemorrhage (PIVH) is a rare neurological disorder, with bleeding confined to the ventricles only, without recognizable parenchymal or subarachnoid component. AIM The purpose of this retrospective study was to identify clinical features, predisposing risk factors, etiology, radiological features and yield of diagnostic cerebral angiography in identifying the etiological causes. SETTINGS AND DESIGN Records of patients admitted in neurology division were analyzed in a tertiary care teaching hospital. MATERIALS AND METHODS We analyzed the records of 27 patients with PIVH evaluated and treated at our institute from August 2010 to April 2013. PIVH was diagnosed as hemorrhage in the ventricles only, detected by computed tomography scan without evidence of intraparenchymal, subarachnoid hemorrhage or intraventricular hemorrhage associated with trauma. CT angiography (CTA) alone was done in 10 patients (37.03%), digital subtraction angiography (DSA) in 2 patients (7.4%) and both CTA as well as DSA was done in 15 patients (55.5%). STATISTICAL ANALYSIS USED Categorical and continuous data were analyzed using SPSS version 17. RESULTS 17 (62.96%) patients were females and 10 (37.03%) were males with ratio of F:M= 1.7:1. Headache was the commonest mode of presentation (85.18%). Hypertension was most common predisposing factor (29.62%) followed by arterio-venous malformations (AVMs) (25.92%), moyamoya disease (MMD) (11.11%), lenticuostriate artery aneurysm (LSA) (11.11%), arterial dissections (7.4%) and dural arteriovenous fistula (dAVF) (3.7%). CONCLUSIONS PIVH is rare and hypertension is important predisposing factor. Yield of cerebral angiography is high in diagnosing the etiology. AVMs and other rare etiological causes like MMD, LSA aneurysm, arterial dissection, and dAVF should be kept in mind with a high index of suspicion and warrants cerebral angiography in them, as some of the causes are potentially treatable.

Longitudinally extensive transverse myelitis: A retrospective analysis of sixty-four patients at tertiary care center of North-West India

OBJECTIVES To evaluate the demographic profile, clinical presentations, laboratory parameters and etiologies of longitudinally extensive transverse myelitis (LETM) patients in Indian population. PATIENTS AND METHODS LETM is characterized by contiguous inflammatory lesions of spinal cord extending to three or more vertebral segments. Neuromyelitis optica (NMO) is the most common cause of LETM. In clinical practice, both LETM and NMO are thought to be synonymous with each other because of their very frequent association. Other causes of LETM are infective, neoplastic, autoimmune diseases and connective tissue disorders. All other causes should be ruled out before making the diagnosis of NMO in LETM patients. We conducted a retrospective study from August 2010 to February 2016 and analyzed various demographic profile, clinical presentations, laboratory parameters and etiologies in sixty-four patients of LETM. RESULTS In our series, majority of the patients presented with acute bladder dysfunction and paraparesis. Twenty-one patients (32.81%) were clinically diagnosed as NMO, out of which thirteen patients were found to have positive serum NMO antibody. Other etiologies of LETM in our series were multiple sclerosis [9 patients], acute disseminated encephalomyelitis (ADEM) [6 patients], postinfectious [5 patient], subacute combined degeneration (SCD) [4 patient], tuberculous myelitis [4 patients], spinal arteriovenous malformation (AVM) [3 patient] and systemic lupus erythematosus (SLE) [3 patient], respectively. In nine patients, cause could not be ascribed despite thorough investigations. CONCLUSION LETM is a heterogeneous disorder with a varied clinical feature, etiologies and outcome. Even the LETM patients who presented with optic neuritis do not necessarily have NMO. Therefore, the diagnosis of NMO should be made only after excluding other causes of LETM. The presence of NMO-Ab (Aquaporin 4-Ab) predicts the increased risk of recurrence of LETM or conversion to NMO.

A rare case of dural arteriovenous fistula presenting as primary intraventricular hemorrhage.

Primary intraventricular haemorrhage (PIVH) is rare. Dural arteriovenous fistula causing PIVH is extremely rare. We report a case of a 17 year old boy who presented with left hemiparesis, left lower motor neuron facial palsy and ataxia. His computed tomography head revealed primary intraventricular hemorrhage. Catheter super selective angiography revealed a dural arterio venous fistula with arterial feeder arising from the middle meningeal artery as well as from the inferior marginal tentorial artery. Glue injection led to successful disappearance of the fistula and eventual clinical recovery.

Brainstem transient ischemic attacks due to compression of pons from a persistent primitive trigeminal artery

Sir, Persistent primitive trigeminal artery (PPTA) is the most common type of persistent carotid‐basilar arterial anastomosis.[1] Most cases have been incidentally detected[1,2] but can present with brainstem symptoms.[2] Possible mechanisms of brain‐stem ischaemia are low perfusion pressure in the vertebrobasilar system and Figure 1: (a) Brain MRI shows indentation of the right ventral pons by the right persistent primitive trigeminal artery. (b and c) MR angiography shows right persistent primitive trigeminal artery c b a hypothalamus and disturbance in neuro‐endocrine function with subsequent hyperphagia and obesity.[3] The other possibility of accessory satiety center around fourth ventricle is also to be considered due to the common embryological origin of hypothalamus and cerebellum from alar plates.[4] This atypical presentation widens the pathophysiology of eating disorders away from the usual hypothalamic location, and needs further corroboration.

Erdheim-Chester disease with isolated craniocerebral involvement

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis with distinctive radiographic and pathological features. Intracranial involvement is further a rarity, usually producing diabetes insipidus or cerebellar-brainstem symptoms. We report a 40-year-old man presenting with recurrent secondarily generalised seizures. An MRI scan of the brain revealed multiple enhancing intracranial masses in frontal, temporal and parietal regions. Biopsy from the left frontotemporal lesion confirmed it to be a rare case of ECD. The patient received a short course of corticosteroids initially and subsequently remained well-controlled on antiepileptic therapy alone. A repeat MRI of his brain showed significant resolution of lesions. Osteolytic lesions in the skull vault were detected during follow-up which also disappeared. Interestingly, there was no involvement of long bones or any other system even after 12 years of follow-up.

Atypical hemifacial spasm due to vertebral artery dolichoectasia: rare cause of a rarer clinical entity.

A 32-year-old man presented with atypical left hemifacial spasm (HFS) with MRI showing compression of left facial nerve at the root exit zone. HFS rarely presents atypically with onset in orbicularis oris and later spreading upward to involve the orbicularis oculi as was seen in our case. Atypical presentation of hemifacial spasm is rare and vertebral artery dolichoectasia as the underlying aetiology, like in our case is even rarer and has not been described in literature so far.

Lenticulostriate Artery Aneurysm Presenting as Subarachnoid Haemorrhage

Lenticulostriate perforating artery aneurysms are rare [1]. Lenticulostriate artery (LSA) aneurysms are endarteries, small and fragile and supply internal capsule and basal ganglia and LSA aneurysms may be saccular or fusiform and commonly present with basal ganglia hemorrhage [1,2]. They can be associated with conditions like moyamoya disease, hypertension, vasculitis and arterio-venous malformations (AVMs) [1-4]. LSA aneurysms which by itself is an uncommon entity usually presents with intraparenchymal haemorrhages [3,5]. Rarely LSA aneurysms presents with subarachnoid haemorrhage (SAH) or primary intraventricular haemorrhage PIVH [1-3,5,6]. We report a rare case of LSA aneurysm presenting with SAH who was successfully managed conservatively.

Rapid thrombosis of middle cerebral artery aneurysm after subarachnoid haemmorhage

Spontaneous thrombosis of intracranial aneurysm is a rare event but is frequent after subarachnoid haemorrhage (SAH) and in fusiform or giant saccular aneurysms. We report a case of a 20-year-old man presenting with SAH due to rupture of a giant aneurysm of the middle cerebral artery. Initial CT angiography (CTA) revealed partially thrombosed MCA aneurysm but digital subtraction angiography performed 3 days later revealed complete occlusion of the aneurysm. Rapid thrombosis of aneurysm within 3 days has not been reported in literature so far.

Mycotic aneurysms of the intracranial and peripheral circulation: A rare complication of bacterial endocarditis.

Meanwhile, patient was started on broad spectrum antibiotics as patient’s family refused for any interventional treatment and follow‐up angiogram was carried out after 2 weeks of antibiotic therapy, which revealed 40% reduction in the size of middle cerebral artery aneurysm. Clinically also, the hemiparesis recovered, fever subsided, and he became ambulatory with some residual dysarthria. Angiographic features that favour a diagnosis of mycotic aneurysm are multiplicity, distal location, fusiform shape, and change in size or appearance of new aneurysm on follow‐up angiogram as was seen in our patient.[2] Case Report