Medicine and Health Sciences Commons^™

Mcph1: A Novel Case Report And A Review Of The Literature, Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli

Department of Biological & Biomedical Sciences

Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neurogenesis, often associated with a variable degree of intellectual disability (ID). The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, nearly all following a recessive inheritance pattern. The first causative gene identified, MCPH1 or Microcephalin, encodes a centrosomal protein that modulates chromosome condensation and cell cycle progression. It is also involved in DNA damage response and telomere maintenance in the nucleus. Despite numerous studies on MCPH1 function, MCPH1-affected individuals are rare and the available clinical reports are …

Multiple System Atrophy - The Cerebellar Type With “Hot Cross Bun Sign” On Mri, Rehana Shaikh, Saba Sohail, Nasreen Naz

Department of Radiology

Multiple system atrophy (MSA) is an adult onset, progressive, idiopathic neurodegenerative disease that clinically manifest as MSA-C with cerebellar signs predominant, MSA-P with Parkinsonian features predominant and MSA-A with autonomic signs and symptoms. MRI has an important role in its diagnosis with a characteristic finding described as "hot cross bun" sign seen in MSA of cerebellar type (MSA-C). We have seen two cases of MSA-C referred to Radiology Department, Civil Hospital Karachi in February 2017 and March 2017 who presented with difficulty in walking and speech and foecal and urinary incontinence. The MRI showed atrophy of pons, cerebellum and middle …

Reading Between The Joints-Using Spinal Magnetic Resonance Imaging For Evaluation Of Instability, Komal Naeem, S. Ather Enam

Section of Neurosurgery

No abstract provided.

Intracranial Cavernous Angiomas, Syed Faraz Kazim, Atta-Ul-Aleem Bhatti, Ather Enam

Section of Neurosurgery

Objective: To describe the clinical presentation, diagnosis, and management of patients presenting with intracranial cavernous angiomas (CAs) at a tertiary care hospital in Pakistan.
Study Design: Case series. Place and Duration of Study: Section of Neurosurgery, The Aga Khan University Hospital (AKUH), Karachi, from January 1990 to September 2008.
Methodology: A retrospective case note review of all patients diagnosed with intracranial CAs at AKUH during the study period. The studied variables included patient demographics, clinical presentation, family history of intracranial CAs or other space occupying lesions, modality of diagnosis, management, and outcome. Results were described as frequency percentages.
Results: During …

Magnetic Resonance Imaging (Mri) Findings In White Matter Disease Of Brain, Humera Ahsan, Muhammad Zafar Rafique, Fozia Ajmal, Mohsin Wahid, Muhammad Azeemuddin, Farah Iqbal

Department of Radiology

Demyelinating and dysmyelinating white matter diseases are important components of neurological problems. Recently, Magnetic Resonance Imaging (MRI) has played a key role in diagnoses of white matter diseases. Therefore, the purpose of the current study is to evaluate the usefulness of MRI in determining the type and frequency of white matter disease. We studied 35 patients who visited the Radiology Department of the Aga Khan University Hospital (AKUH) for MRI with suspected demyelinating/dysmyelinating disorder from January 2003 to December 2005. Multiple Sclerosis (MS) (17; 48%) and leukodystrophies (10; 29%) were the most common diseases. The MRI helped identify the sites …

Acute Stroke Secondary To Internal Carotid Artery Pseudoaneurysm: Mri Findingsand Treatment With Endovascularcoiling, Mohammad Wasay, Alper Dai, Neeraj Dubey, Saadat Kamran

Department of Medicine

Internal carotid artery pseudoaneurysms are uncommon. We report a young man with history of trivialtrauma who presented with middle cerebral artery stroke.Head CT scan revealed a right parapharyngeal mass. MRI confirmed the diagnosis of internal carotidpseudoaneurysm. Cerebral angiogram showed dissection of internal carotid artery with a large pseudoaneurysm and almost complete occlusion of vessel distal to aneurysm.Vessel was obliterated by fibercoiling and gluing byendovascular technique to diminish risk of furthere mbolization. MRI characteristics of carotid pseudoaneurysms and role of endovascular treatment arediscussed.

Cerebral Venous Thrombosis: Recent Advances And Need For An Asian Registry, Mohammad Wasay, Ayeesha K. Kamal

Department of Medicine

No abstract provided.

Wernekink Comissure Syndrome: A Rare Midbrain Syndrome Secondary To Stroke, Alper I. Dai, Mohammad Wasay

Department of Medicine

Wernekink commissure involves the decussation of superior cerebellar peduncle (SCP) in midbrain. We report an elderly hypertensive, diabetic man who developed slurred speech, ataxia, and internuclear ophthalmoplegia. MRI examination revealed an unusual ischemic stroke involving Wernekink commissure. This rare stroke pattern involving decussation of SCP occurs in the setting of small arterial disease. The association between the anatomic location of the stroke and clinical findings is noteworthy.

Neurology In The 21st Century: Contemporary State Of Diagnostics And Therapeutics, Saad Shafqat, Mohammad Wasay

Department of Medicine

Although neurological disease has been recognized since antiquity, neurology as a systematic clinical discipline is less than 130 years old. Neurological practice has traditionally been constrained by the complexity of the human nervous system, which has been slow to yield its secrets. Over the last three decades, however, clinical neurology has been transformed in terms of both diagnostics and therapeutics and now marches in lockstep with the cutting edge of medicine. Efficacious treatments are now available for the majority of neurological diseases, including epilepsy, migraine, Guillain-Barre syndrome, Parkinson's disease, multiple sclerosis, and ischemic stroke. This neurological revolution has been enabled …

Prognostic Indicators In Patients With Intracranial Tuberculoma: A Review Of 102 Cases, Mohammad Wasay, M. K. Moolani, J. Zaheer, Bhojo A. Khealani, R. A. Smego, A. R. Sarwari

Department of Medicine

Objective:

To see the characteristics, course and outcome of patients suffering from intracranial tuberculoma.

Methods:

Retrospective review of 102 patients diagnosed as intracranial tuberculoma at a tertiary care center over 10 years.

Results:

A total of 102 cases were seen with an age range of 1 to 75 years (mean, 30 years). Predisposing factors included Diabetes mellitus (8 patients) and pregnancy or puerperium (7 patients). Five pediatric patients had tuberculoma despite documented BCG vaccination. Fever (59%), headache (57%), meningeal irritation (36%) were the commonest presenting features; one-third of patients were drowsy or comatosed at presentation. Cerebrospinal fluid analysis was performed …