Hereditary sensory autonomic neuropathy II, a rare disease in a large Pakistani family

Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these patients can progress to necrosis and shedding of digits and limbs. Here we report two cases of HSAN II belonging to a Pakistani family. Individual 1, a forty five year old man, had complete loss of pain sensation since birth. Self-mutilation and complication of injuries resulted in the shedding of all the digits and right foot and surgical amputation of left leg. Individual 2, a five year old girl,had delay in healing of wounds and self-mutilation. Examination showed a complete lack of pain sensation throughout her body and hyporeflexia. As the genetic cause of HSAN II is unknown, identification of more patients will allow further research on this disease and possibly develop a cure

A rare case of simple hereditary recessive optic atrophy

Simple Autosomal Recessive Optic Atrophy (AROA) is a rare hereditary disorder that belongs to a group of disorders called Hereditary Optic Atrophy. Patients diagnosed with simple AROA have complete blindness since birth or from first few months of life. This blindness does not improve with age. However, no other organ or system is affected in this disorder. There is no known cause or gene mutation associated with it. Here we report a case of a two year old child diagnosed with simple AROA. Family history of the patient revealed that an older deceased relative also suffered from similar symptoms. Identification of this and similar cases of the simple AROA can help us better understand this disorder and hopefully one day help us develop a treatment for it

A Rare Case of Becker Disease in a 7 Year Old Boy

Becker Disease is an autosomal recessive version of the rare congenital disorder called Myotonia Congenita. Due to the rarity of Becker Disease, the genetic and pathological basis of this disease have not been studied well and possible diagnostic methods and techniques are yet to be explored. The existing method of diagnosis of such a case is predominantly dependent on the clinical examination. More work and studies need to be done on the diagnostic aspect of this disease to discover newer diagnostic methods for this disease, which are more reliable and specific. In order to develop better diagnostic methods for the disease, more cases of Becker disease need to be reported, with details of clinical and structural abnormalities. Here, we present the case report of a seven year old boy who has a history and clinical findings suggestive of Becker disease. Identification of this and similar cases of Becker disease can help us better understand this disease and hopefully one day help us develop a treatment for it

Flipped classroom instructional approach in undergraduate medical education

Objective: In this study we implemented the “flipped classroom” model to enhance active learning in medical students taking neurosciences module at Aga Khan University, Karachi. Methods: Ninety eight undergraduate medical students participated in this study. The study was conducted from January till March 2017. Study material was provided to students in form of video lecture and reading material for the non-face to face sitting, while face to face time was spent on activities such as case solving, group discussions, and quizzes to consolidate learning under the supervision of faculty. To ensure deeper learning, we used pre- and post-class quizzes, work sheets and blog posts for each session. Student feedback was recorded via a likert scale survey. Results: Eighty four percent students gave positive responses towards utility of flipped classroom in terms of being highly interactive, thought provoking and activity lead learning. Seventy five percent of the class completed the pre-session preparation. Students reported that their queries and misconceptions were cleared in a much better way in the face-to-face session as compared to the traditional setting (4.09 ±1.04). Conclusion: Flipped classroom(FCR) teaching and learning pedagogy is an effective way of enhancing student engagement and active learning. Thus, this pedagogy can be used as an effective tool in medical schools

Three siblings with Charcot-Marie-tooth Disease with no other family history

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited disorders of the peripheral nervous system. Patients diagnosed with CMT disease have axonal degeneration which results in muscle wasting, sensory loss and weakness. These patients have a very characteristic walking gait and shape of hands, along with other changes. Despite many common visible changes, no singular common genetic mutation for this disease or its cure has been identified. Therefore more case series for this disease needs to be identified so that future studies increase our knowledge about this disease. Here, we present a case series of 3 out of 4 siblings who have been diagnosed with CMT disease. Based on their age, these siblings show the different developmental stages of this disease. More of such case series need to be identified and reported so that we can identify the true genetic cause of this disease and develop a definitive cure for it

Misconceptional views about epilepsy exist across social class system of society

Epilepsy affects over 1% of population worldwide. Studies have shown that although our understanding about epilepsy has come a long way, misconceptions about its etiology and treatment exist in rural slums. However, no study has been conducted to see whether such misconceptions exist in middle and upper socio-economic class. This study aims to explore the existence of misconceptions and social stigma in the middle and upper socio-economic class. Materials and Methods: We conducted a survey-based study about epilepsy on 227 participants, belonging to middle and upper socio-economic class. Results: The symptoms of generalized tonic-clonic seizures were correctly described by participants. However, magic, superstition and ‘jin’ were considered as the etiology by some. Incorrect treatment options, like shoe sniffing and ‘taweez’ etc., were also mentioned. Social stigmas regarding sharing information about epilepsy and marrying epileptics also existed. Discussion: Our study shows that although the general understanding about epilepsy was correct in majority of participants belonging to the middle upper socio-economic class, it was restricted to generalized tonic clonic seizures. Key misconceptions regarding the etiology and treatment of epilepsy and social stigma associated with it did exist. These findings emphasize the need to educate all segments of the society about epileps

Acute childhood ischemic stroke: a pakistani tertiary care hospital experience

Stroke in pediatric population is increasingly recognized and has diverse clinical presentation and risk factor profile. Majority of patients survive acute stroke but remain disabled. The reported literature on the subject from our part of world is scarce.Methods:A retrospective chart review was carried out for stroke patients between 1 month and 14 years of age, admitted between January 2009 and January 2015. Their demographic, clinical and radiological data was collected and analyzed.Results:Twenty nine patients were admitted with stroke over 5 years. Their mean age was 5.7 ±11.7 and male to female ratio was 3:1. The most common clinical features reported were seizures (72%), paresis (62%), and altered mental status (52%) followed by fever (38%), cranial nerve palsies (34%) and vomiting (35%). Cardiovascular diseases (28%) were the most common identifiable etiologic factors. Only 59% had unilateral strokes. Fifty five percent had anterior circulation strokes, 14% had posterior circulation strokes while 31% had involvement of both vascular territories. Only 31% had single vessel strokes. Twenty-eight percent of the patient died during the hospital stay (mean stay was 7±5 days). 62% of the infants compared to 18% of older kids (p=0.01), 62% of patients with both vascular territories compared 15% in single territory (p=0.03) and 58% of patients with bilateral strokes compared to 6% in unilateral strokes (p=0.03) died.Conclusions: Cardiovascular diseases are most common etiologic factors of stroke in pediatric age group and it carries high acute mortality. Bilateral and multiple territorial strokes, and age less than one year were associated with acute mortality

Video microscope robotic arm-assisted, neuronavigation-guided glioma resection and regional sampling

High-grade gliomas possess internal pathological heterogeneity. Selective sampling of different tumor regions can help in the study of this heterogeneity. In this report, we have described the use of a novel navigation and optical system for the selective regional sampling of a high-grade glioma lesion. A 45-year-old gentleman presented to us with complaints of intermittent frontal headaches for past eight months. On examination, he had subtle pyramidal weakness in left upper and lower extremities. Magnetic resonance imaging (MRI) showed a large contrast-enhancing, space-occupying lesion in the right frontal lobe causing perilesional edema and midline shift. We marked four different regions on the preoperative MRI using apparent diffusion coefficient (ADC) mapping and contrast enhancement pattern in four different combinations using presurgical planning software (BrightMatter™ Plan) (Synaptive Medical, Inc., Toronto, Canada). These pre-identified areas were exported into BrightMatter™ Servo (Synaptive Medical, Toronto, Canada), an integrated robotic video microscope with a neuronavigation system where these areas were selectively sampled and sent for analysis. The BrightMatter™ Servo not only helped us to the target areas but also helped to identify a safe trajectory, respecting white matter tracts. Histopathology showed a neoplastic lesion composed of mononuclear round cells with the perinuclear halo in a fibrillary stroma with admixed mini-gemistocytes consistent with the diagnosis of a Grade 3 anaplastic astrocytoma. A selective regional sampling of the gliomas can be reliably performed using BrightMatter™ technologies to study the pathological heterogeneity of these lesions