Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.

Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS). Dandy-Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and hydrocephalus is often associated with agenesis of the corpus callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. But radiological features of DWM with microcephaly and intracranial calcification are very unusual and have been rarely reported in the literature.[1] We report a case of infant showing clinical features suggestive of congenital CMV infection with negative serology and radiological imaging suggestive of DWM with extensive intracranial calcification. Pseudo-TORCH syndrome with radiological features of DWM is a congenital developmental abnormality. Inspite of hydrocephalus, it does not require cerebrospinal fluid (CSF) diversionary procedure due to lack of increased intracranial pressure. Conservative management for seizure disorder is the optimal therapy.

Intracerebellar haemorrage in a haemophilia child.

Hemophilia A is an inherited, X-linked, recessive disorder caused by deficiency of clotting factor VIII. Intracranial hemorrhage is the leading cause of morbidity and mortality in these patients. Use of factor replacement products and medications had improved outcome in these patients. But in developing countries many such patients are not able to afford factor replacement products. We report a case of traumatic intracerebellar hemorrage in a hemophilia child. This child presented to us as a case of sub-acute intracerebellar hemorrage, he was managed conservatively with six units of fresh frozen plasma transfusion. He improved clinically and on follow-up investigation hematoma was found to have dissolved spontaneously. Through this report we want to emphasize that those cases of hemophilia presenting with acute or sub-acute intracranial bleed, conservative approach through procoagulant transfusion and intravenous fibrinolysis inhibitors should be tried as first line of management. Before daring for surgery sufficient amount of factor replacement should be kept available.

Spinal cord compression due to primary intramedullary tuberculoma of the spinal cord presenting as paraplegia: A case report and literature review.

BACKGROUND: Spinal cord compression can be due to various causes but spinal intramedullary tuberculoma is a rare cause. We report a case that had an intramedullary spinal cord tuberculomas in which the diagnosis was made histologically, without evidence of symptoms of systemic tuberculosis. This lesion, located in the thoracic region, mimicked as an intramedullary tumor radiologically. CASE DESCRIPTION: The patient was a 25-year-old male who presented with a history of progressive paraparesis. Initial diagnosis was made as an intramedullary tumor by magnetic resonance imaging (MRI). The treatment of the patient involved is complete surgical excision of intramedullary lesion followed by appropriate antituberculous therapy. Postoperatively, his neurological symptoms were dramatically improved. With combination of both surgical and medical treatments, excellent clinical outcome was obtained. CONCLUSION: This case illustrates the risk of misdiagnosis and the importance of histological confirmation of a pathological lesion as spinal cord tuberculoma prior to surgical therapy, which should be kept in mind as a differential diagnosis of the intramedullary spinal cord tumors.

Large vertex meningoencephalocele with schizencephaly: An interesting case with neurosurgical challenge.

An encephalocele is a developmental disorder of neural tube closure, where as schizencephaly is a developmental disorder of neuronal migration. There are only few case reports suggesting association of schizencephaly with meningoencephalocele. We report a case of 6-year-old child who was brought by her parent with complaints of progressive swelling over her vertex since birth, left sided hemiparesis and intermittent generalized tonic clonic convulsion for last 3 years. Clinical examination, computed tomography (CT) and magnetic resonance imaging (MRI) of brain revealed a large calvarial defect with meningoencephalocele and associated schizencephaly. Initially, ventriculoperitoneal (VP) shunt was carried out, followed by successful repairing of the defect. This case is interesting for late presentation, management difficulties and associated anomalies "schizencephaly", which is a rare developmental disorder.

Cranio cervical tuberculous hypertrophic pachymeningitis.

BACKGROUND: Hypertrophic pachymeningitis is a unique clinical entity characterized by fibrosis and thickening of dura mater resulting in neurological dysfunction. It could be idiopathic or due to variety of inflammatory and infectious conditions. Tuberculous hypertrophic pachymeningitis involving cranio cervical region is rarely reported. CASE DESCRIPTION: A 50-year-old female presented with history of progressive quadriparesis and stiffness of neck for 2 years, dysphagia to liquid for past 3 months. Her condition rapidly deteriorated when another physician prescribed her corticosteroid. Physical examination revealed high cervical compressive myelo-radiculopathy with lower cranial nerve palsy and neck rigidity. Series of serum analysis, cerebrospinal fluid (CSF) study and contrast magnetic resonance imaging (MRI) clinched the diagnosis. She improved on antitubercular treatment. CONCLUSION: In case of multilevel cervical compressive myelo-radiculopathy with lower cranial involvement, possibility of hypertrophic pachymeningitis should be kept in mind. Before diagnosing it as idiopathic, infectious causes should be excluded otherwise prescription of corticosteroid will flare up the disease process.

Primary extradural spinal ganglioneuroblastoma: a case report.

We report a case of ganglioneuroblastoma of the spinal cord in a 25-year-old man. Clinical history was short with paraparesis and bladder involvement. The MRI picture was that of an extradural solid tumor with extension to both intervertebral foramina, more suggestive of nerve sheath tumour rather than malignant embryonal tumour. Diagnosis was established by histopathological study. We could not find such a presentation of spinal ganglioneuroblastoma as an extradural, primary tumour in the literature. We discuss the radio-pathological features, surgical management and post-operative outcome.

A case of multiple myeloma presenting as scalp swelling with intracranial extension.

Multiple myeloma is a malignant neoplasm of bone marrow affecting plasma cells. It is usually detected in skull bone with characteristic features of multiple punched-out lesions. Its presentation as a solitary scalp swelling with underlying skull bone erosion and intracranial extension is very rare. A 35-year-old female presented to us with complains of rapidly growing left-side scalp swelling with right-side paresis and simple partial seizure of right upper limb. Local examination, X-ray skull, CT scan, and MRI of brain were suggestive of a malignant lesion. Near total excision of lesion was done. Histopathological study was suggestive of plasmacytoma of skull. Bone marrow study further confirmed it as a case of multiple myeloma. Cases presenting with solitary osteolytic skull lesions, possibility of plasmacytoma, or multiple myeloma should be kept in mind.