Cingulum bundle integrity in schizophrenia with auditory verbal hallucinations: A diffusion tensor imaging tractographic study

Background & objectives: Cingulum bundle (CB) is frequently implicated in schizophrenia; however, its role in specific symptoms of schizophrenia such as auditory verbal hallucinations (AVHs) is less explored. Few studies have reported association between reduced integrity of CB and severity of AVH. Using a symptom-based approach, this diffusion tensor imaging (DTI) tractographic study was aimed to assess and compare the integrity of CB in schizophrenia with AVH, schizophrenia without AVH and healthy controls. Methods: A total of 92 right-handed adult individuals (aged 18-50 yr) were recruited across three study groups. Those with Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5) diagnosis of schizophrenia with AVH (group I; n=30) were compared to those with DSM-5 schizophrenia without lifetime AVH (group II; n=32) and healthy controls (group III; n=30; screened using Mini International Neuropsychiatric Interview version-7.0.0. and negative family history). Clinical assessments (groups I and II) included scale for assessment of positive symptoms, scale for assessment of negative symptoms, clinical global impression-schizophrenia and psychotic symptom rating scale. All participants underwent DTI, and quantitative tract-based measurements of fractional anisotropy (FA) were obtained for images using DTI studio version-3.0. Results: All groups were comparable for age, gender, education and severity of illness. Group I had significantly lower FA values in the cingulate gyrus (CG) part of the left CB compared to groups II and III. No significant difference was found between groups II and III. Interpretation & conclusions: The findings of this study suggest that the disruption in the left CB appears to be specific for AVH-positive schizophrenia. The finding is, however, preliminary subject to replication in future studies. Further investigations are needed to understand its relevance in the context of AVH-positive schizophrenia.

Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.

Background & objectives: spinocerebellar ataxia 7 (SCA7) is a rare form of neurodegenerative disorder with the clinical manifestation of cerebellar ataxia and retinal degeneration. In this study we describe the clinico-genetic characteristics of nine SCA7 families of Indian origin and cross compare these with other available worldwide studies. Methods: Thirty five individuals from nine SCA7 families were clinico-genetically characterized and CAG repeat distribution analysis was carried out in 382 control DNA samples from healthy controls (derived from 21 diverse Indian populations based on ethnic and linguistic and geographical location). Results: Of the nine families studied, 22 affected individuals and one asymptomatic carrier were identified. The average age at disease onset was 23.4±12.6 yr. The length of expanded CAG ranged from 40-94 with mean value of 53.2±13.9. The main clinical findings in affecteds individuals included cerebellar ataxia, and retinal degeneration along with hyper-reflexia (95%), slow saccades (85%) and spasticity (45%). Analysis of the association of number of CAG repeats with disease onset revealed that <49 repeats were associated with earlier age at onset in South East Asians compared to European populations. Further analysis of CAG repeats from 21 diverse Indian populations showed pre-mutable repeats (28-34) alleles in the IE-N-LP2 population. Six of the nine families identified in this study belonged to the same ethnic population. Interpretations & conclusion: Our results show that presenece of SCA7 is relatively rare and confined to one ethnic group from Haryana region of India. We observed a homogeneous phenotypic expression of SCA7 mutation as described earlier and an earlier age of onset in our patients with CAG <49. The identification of pre-mutable allele in IE-N-LP2 suggests this population to be at the risk of SCA7.

Autologous intravenous bone marrow mononuclear cell therapy for patients with subacute ischaemic stroke: a pilot study.

Background & objectives: Bone marrow mononuclear cell therapy has emerged as one of the option for the treatment of Stroke. Several preclinical studies have shown that the treatment with mononuclear cell (MNCs) can reduce the infarct size and improve the functional outcome. We evaluated the feasibility, safety and clinical outcome of administering bone marrow mononuclear cell (MNCs) intravenously to patients with subacute ischaemic stroke. Methods: In a non-randomized phase-I clinical study, 11 consecutive, eligible and consenting patients, aged 30-70 yr with ischaemic stroke involving anterior circulation within 7 to 30 days of onset of stroke were included. Bone marrow was aspirated from iliac crest and the harvested mononuclear cells were infused into antecubital vein. Outcomes measured for safety included immediate reactions after cell infusion and evidence of tumour formation at one year in whole body PET scan. Patients were followed at week 1, 4-6, 24 and 52 to determine clinical progress using National Institute of Health Stroke Scale (NIHSS), Barthel Index (BI), modified Rankin Scale (mRS), MRI, EEG and PET. Feasibility outcomes included target-dose feasibility. Favourable clinical outcome was defined as mRS score of 2 or less or BI score of 75 to 100 at six months after stem cell therapy. Results: Between September 2006 and April 2007, 11 patients were infused with bone-marrow mononuclear cells (mean 80 million with CD-34+ mean 0.92 million). Protocol was target-dose feasible in 9 patients (82%). FDG-PET scan at 24 and 52 wk in nine patients did not reveal evidence of tumour formation. Seven patients had favourable clinical outcome. Interpretation & conclusions: Intravenous bone marrow mononuclear cell therapy appears feasible and safe in patients with subacute ischaemic stroke. Further, a randomized controlled trial to examine its efficacy is being conducted.

Lupus Vulgaris of external nose with septal perforation - A rarity in antibiotic era.

Lupus vulgaris (LV) is the commonest morphological variant of cutaneous tuberculosis. Case of LV of external nose extending to internal nose causing septal perforation is documented here. Histopathology of biopsy taken confirmed the diagnosis of LV. Patient responded well to Anti-tubercular therapy (ATT).

Giant retropharyngeal abscess secondary to tubercular spondylitis.

Chronic retropharyngeal abscess secondary to tubercular spondilitis is a rare phenomenon. Anatomical location of this abscess makes it a life threatening condition requiring prompt diagnosis and treatment thus preventing morbidity and mortality. Authors are documenting a case of tubercular spondylitis of cervical region in a 12-year old male child with huge retropharyngeal abscess extending to superior mediastinum. Clinically, patient had respiratory distress but no neurological deficit. USG (Ultrasonography) guided aspirate of abscess sent for microscopy and culture showed acid fast bacilli. Multiple USG guided aspirations under antibiotic and antitubercular cover (Category I) were done. Patient is doing well at three month follow-up.

Gliomatosis cerebri.

A 6-year-old boy who presented with worsening hemiplegia, behaviour problems and seizures after an episode of encephalitis-like illness is reported. MRI revealed diffuse signal change and swelling of the left cerebral hemisphere. The diagnosis of gliomatosis cerebri was confirmed by brain biopsy. Parents refused radiotherapy and the child worsened and died 6 months after diagnosis.

Intraventricular neurocysticercosis.

Neurocysticercosis is the commonest CNS parasitic disease worldwide but cysticercal meningitis and intraventricular lesions are relatively rare, especially in Indian patients. We herein report a girl with cysticercal meningitis that remained undiagnosed and the patient later presented with unilateral hydrocephalous due to Foramen of Monroe block by an intraventricular cyst. The need for CSF examination with Wright-Giemsa staining to avoid missing CSF eosinophilia is discussed.

Rhombencephalosynapsis: association with single umbilical artery.

A 6-year-old girl who presented with developmental delay and non-progressive ataxia is described. MRI of brain showed agenesis of cerebellar vermis with fusion of cerebellar hemispheres and dentate nuclei. MRI findings were characteristic of rhombencephalosynapsis. Partial agenesis of corpus callosum and absent septum pellucidum were also seen. The child had also been noted to have a single umbilical artery at birth: a hitherto undescribed association.

Cerebral blastomycosis: a case report.

Blastomycosis is a chronic systemic fungal infection characteristically affecting the skin and lungs. Involvement of the central nervous system (CNS) is unusual, with cases generally presenting with meningitis, and rarely as intracranial mass lesion and solitary or multiple abscesses. Only two cases of intracranial extra-axial blastomycosis have been reported from India, and we report the third case, which presented as meningioma in a 23-year old female.

Autosomal recessive type I lissencephaly.

Lissencephaly (LIS) is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle and microscopic evidence of incomplete neuronal migration, excluding polymicrogyria and other cortical dysplasias. It is important to consider LIS in the diagnosis of developmental delay as many patients may be diagnosed as cerebral palsy. It may have familial occurrence and can occur in sibs of same family often leading to a diagnostic problem. Several lissencephaly syndromes have been described. Here a familial syndrome of lissencephaly is reported. Autosomal recessive inheritance is suggested by recurrence in sibs within the same family, but germ cell mosaicism for a dominant mutation cannot be excluded.

SCIWORA-Spinal Cord Injury Without Radiological Abnormality.

Following trauma, the commonly used radiological investigations, plain radiographs and computed tomography (CT) studies do not rule out injury to the spinal cord. This is especially true for children, as an entity known by the acronym SCIWORA (spinal cord injury without radiological abnormality) exists and the changes may be picked up only on magnetic resonance imaging (MRI). Early treatment (within 6 hours) with high dose methylprednisolone improves the outcome. Spinal trauma being common it is possible that the burden of neurological handicap following this can be reduced by increasing awareness and early treatment with steroids. In the community, pediatricians are often the first medical contact after spinal trauma and awareness of the lacune of conventional imaging techniques is important especially if clinical symptoms pertaining to the spine are present. The community pediatrician is hereby made aware of the need to investigate spinal trauma with a MRI for possible SCIWORA situation as it generates a possibility for therapeutic intervention to alter the outcome positively.

Sellar Tuberculoma: An unusual infection.

Tuberculomas are common intracranial lesions in our country. However, tubercular infection of pituitary gland is very unusual. We present a case of intrasellar tuberculoma mimicking pituitary adenoma, and suggest the radiological features and management. A 22-year-old woman had presented with generalized dull aching mild to moderate headache for 8 months and decreased vision in both eyes for 6 months. Visual acuity was 6/9 in both eyes but visual fields and fundus examination were normal. There were no other significant findings. CT scan and MRI (brain) showed a sellar- suprasellar lesion. The pituitary stalk was thickened, as was the mucosa of sphenoid sinus, which raised the suspicion of an infectious pathology other than pituitary macroadenoma. Surgery was performed through sublabial transsphenoid route. A firm, rubbery, yellowish, non-suckable and relatively avascular lesion was found in the sella. Only subtotal decompression was done. Frozen section biopsy was suggestive of inflammatory pathology. Histopathology revealed features compatible with tuberculosis. We suggest that tuberculosis should be considered in the differential diagnosis of sellar lesions, especially if associated with contrast enhancement and thickening of sphenoid sinus mucosa or pituitary stalk, particularly in patients from tuberculosis endemic areas. Most of these patients are negative for workup for systemic tuberculosis. Intraoperatively, a frozen section should be sent and if it shows inflammatory pathology, only a decompression for biopsy should be done. We do not advise radical decompression of these lesions as anti-tubercular treatment is sufficient for cure.

Intraventricular rhabdoid tumor.

Malignant rhabdoid tumor (MRT) most commonly occurs in kidney. In the central nervous system, cerebellum is the most common site of occurrence. CNS rhabdoid tumors typically occur in small children, do not respond favorably to treatment and are usually fatal within 1-year. Here is reported a 4-year-old child who presented with features of raised intracranial pressure. Apart from papillodema, there were no neurological signs. Imaging revealed a left lateral ventricular heterogeneous mass abutting the foramen of monro, with mild irregular contrast enhancement and hydrocephalus. The child underwent right ventriculo-peritoneal shunt followed by craniotomy and gross total tumor resection. He was discharged 10-days after surgery without any neurological deficits. Histopathology revealed features compatible with rhabdoid tumor. Despite radiotherapy and chemotherapy, the child died of progressive disease 10-months after surgery. The highly malignant nature of this tumor makes early diagnosis essential for aggressive management and prognostication.

Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy.

Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD.

Giant intraparenchymal neurocysticercosis: unusual MRI findings.

We report a case of surgically proven giant neurocysticercosis (NCC). MR imaging revealed an unusually large solitary parenchymal cystic lesion showing signal intensity similar to CSF on all pulse sequences, with internal septations and a small nodule in the anterior aspect of this lesion compatible with this diagnosis. Identification of a scolex in a cystic lesion with CSF intensity plays a key role in the diagnosis of NCC. The presence of internal septations is an atypical feature.