Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: A novel observation from south India.

A 37-year-old gentleman presented with macrocephaly since early childhood and progressive impairment of motor and cognitive functions. Magnetic resonance imaging revealed extensive white matter involvement and frontotemporal subcortical cysts. Absent ankle jerk and abnormal nerve conduction study raised a possibility of associated peripheral neuropathy. Sural nerve biopsy was suggestive of dysmyelinating neuropathy. This report serves to expand the clinical spectrum of this rare leukodystrophy.

Neurological manifestations of Ehlers-Danlos Syndrome.

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance.

Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently described disease. It is characterized clinically by a large head, mild neurological symptoms and a remarkably slow course of functional deterioration. The MRI is characterized by 'swollen white matter' and large symmetrical cystic changes in the cerebral hemispheres. MLC should be considered in the differential diagnosis of children with megalencephaly and leukoencephalopathy. We report a child with this disease and discuss the MRI and MRS features.

Functional MR imaging of hand motor cortex in a case of persistent mirror movement.

Persistent mirror movements are unwanted movements restricted to muscles homologous to those moved intentionally on the opposite body half. It is rarely observed and the functional MRI findings in a case of persistent mirror movement are described.

CT features of intracranial metastases of unknown primaries.

Intracranial metastases of central nervous system are relatively common in patients with systemic cancer. Computed tomography (CT) scans of 60 patients of intracranial metastatic disease of unknown primaries, at the time of surgery, were retrospectively analyzed. These patients primarily presented with neurological dysfunction. They were operated upon for various reasons and histopathological diagnosis was obtained. There were 39 male and 21 female patients, with age range of 18 to 74 years. The common clinical symptoms were raised intracranial pressure without lateralization, acute onset hemiplegia and seizures. Multiple cranial nerve palsies were observed in 4 patients. Histopathologically the intracranial lesions consisted of metastatic adenocarcinoma (32 cases) or metastatic squamous cell carcinoma (28 cases). Among cases of adenocarcinoma, CT revealed solitary lesions in 17 and multiple lesions in 13 cases. Two had extraaxial deposition in the region of petrous apex. Out of squamous cell carcinomas, 17 lesions were solitary, while 10 were multiple and one had extraaxial deposition in the region of petrous apex. This study is unique as it consisted of CT features of intracranial metastases of unknown primary malignant disease elsewhere in the body.

MRI in subacute combined degeneration of spinal cord: a case report and review of literature.

A 56 year old man presented with acute onset posterior column and lateral spinothalamic tract dysfunction over a period of 15 days. MRI showed diffuse hyperintensity on T2WI involving the posterior columns. A diagnosis of subacute combined degeneration (SCD) of the spinal cord was considered and confirmed by laboratory findings. The patient showed complete recovery on B12 therapy. MRI lesion also compeletely resolved.

Intracranial infective aneurysms: angiographic evaluation with treatment.

Infective intracranial aneurysms are relatively uncommon. They develop due to septic embolisation of the vasa vasorum or lumen of the artery, with resultant focal arteritis and necrosis, leading to aneurysm formation. They are an important cause for intracranial haemorrhage. Six cases of infective aneurysms are described. A focus of infection could be detected in all the patients. Surgery was done in three cases, out of which two patients made significant recovery, while one patient died in the immediate postoperative period. Out of the three cases, treated conservatively with antibiotic therapy, there was total resolution on follow up angiogram in two, while one patient was lost to follow up.

Open and minimally open lips schizencephaly.

Two patients with isolated schizencephaly, a very rare congenital anomaly of the brain, who presented with epilepsy are presented. According to imaging morphology, there are two types of schizencephaly, 'open lip' and 'minimally open lip'. These two cases emphasize that while MRI is superior to CT in the diagnosis of congenital brain anomalies, schizencephaly can be diagnosed by its characteristic CT features.

Intramedullary spinal epidermoid cyst.

Intramedullary epidermoid cysts of the spinal cord are rare tumours, especially those not associated with spinal dysraphism. Around 50 cases have been reported in the literature. Of these, only seven cases have had magnetic resonance imaging studies. We report two cases of spinal intramedullary epidermoid cysts with MR imaging. Both were not associated with spina bifida. In one patient the tumour was located at D4 vertebral level, while in other within the conus medullaris. The clinical features, MR imaging characteristics and surgical treatment of such rare intramedullary benign tumours are discussed, and the relevant literature reviewed.

Posterior circulation abnormalities in moyamoya disease : a radiological study.

Moyamoya disease (MMD) is an uncommon entity outside Japan. Though the clinical and radiological features are well described, involvement of the posterior circulation has not been highlighted. Out of 10 patients of MMD studied, the posterior circulation was involved in 9 (3 bilateral, 6 unilateral). The P1 segment was most commonly affected. Interestingly, no infarcts were seen in the territory of the posterior circulation in any patient. Five patients showed recent haemorrhages on scan. It was thalamic haemorrhage in four and subarachnoid in one patient. The posterior circulation is frequently involved in MMD as evident on angiography. However, ischaemic events of the posterior circulation are not frequent, as the posterior circulation acts as collateral pathway for the diseased anterior circulation till later stages of the disease.

Radiological findings in moyamoya disease.

The clinical, angiographic and computed tomographic features in eight children with Moyamoya disease were evaluated. The CT Scan findings were correlated with the angiographic features and the stage of the vascular disease. Stenosis/occlusion of the supraclinoid internal carotid artery (ICA) and the proximal parts of the anterior (ACA) and middle cerebral arteries (MCA) were commonest angiographic findings. The cervical ICA was narrow in four patients. Infarcts (100%), abnormal enhancement patterns (63%) and cerebral atrophy (88%) were the frequent CT scan findings. Although the CT scan findings did not correlate entirely with the angiographic and clinical findings, they were more frequently abnormal in later stages of the disease. The volume of Moyamoya increased progressively up to stage 3 of the disease only to decrease with further progression. The etiology of Moyamoya disease in Indian children is not clear. However, the clinical and radiological features are similar to that in the Japanese.