Myotonic dystrophy in a Pakistani family: a case series and literature review

Myotonic dystrophy also known as (Steinert\u27s disease) is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population. It is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, cataracts, intellectual deterioration and endocrinopathies. Affected men may have gonadal atrophy and infertility. On the other hand women are generally fertile. We report a case series of three individuals belonging to the same family presenting with characteristic features of myotonic dystrophy. The presentation of these cases depicts that this disease can lead to disability, loss of independence and social isolation especially in the elderly. They warrant adequate work up for diagnosis which may sometimes be extensive. Proper genetic counseling of the family is required regarding nature of the disease and with risks and prognosis

An analysis of pattern and burden of patients Referred for nerve conduction study in a Tertiary care hospital in Pakistan

Background: To analyze the trend and load of neurological diseases in a university medical center for reffered electrophysiology. Methodology: From January 2016 to December 2018, this retrospective study was carried out in department of Neurology, Pakistan Institute of Medical Sciences (PIMS) Islamabad. A total of 4527 patients were evaluated during this time period in neurophysiology lab through computerized data

A Case of Acute Psychosis Following Dengue Fever

Dengue fever has been infecting millions of people all around the world specially the rural areas of South East Asia according to World Health Organization. It is caused by an Arbovirus and transmitted by the bite of an infected female Aedes aegyptii mosquito. Dengue commonly presents with fever and thrombocytopenia; rare presentations include acute pancreatitis, dengue hemorrhagic stroke and encephalopathy. Common psychiatric complications of dengue fever include anxiety, depression, manic episodes and catatonia. We present a rare case of a 51 year old man who presented with an acute episode of psychosis including over talkativeness, irritability, authoritative and disinhibited behavior, suspiciousness, over familiarity, self important ideas and loss of sleep 15 days following dengue fever. Rapid resolution of symptoms was seen with low dose anti-psychotics and patient fully recovered over a follow up period of 2 months. Literature on psychosis following dengue fever is sporadic with very few publications. Every patient coming from those areas where dengue is endemic and presenting with acute onset of psychotic disorder followed by fever should be screened for dengue. Early recognition is important for appropriate treatment and family counseling about the likely temporary nature of the patient’s symptoms

A Rare Case of X-Linked Bulbo-Spinal Muscular Atrophy with Sensory Neuropathy and Tremors

Kennedy disease (KD) is also known as spino bulbar muscular atrophy caused by a tandem C-A-G tri-nucleotide repeat. It is an adult-onset X-linked recessive inherited neurodegenerative disease involving lower motor neuron damage with predominance of facial muscles. It is often accompanied with androgen sensitivity, sensory nerve damage and endocrinal involvement. It has similar confusing symptoms and is often mis-diagnosed with most of the neuromuscular diseases like POEMS syndrome, myasthenia gravis, mitochondrial myopathy and amyotrophic lateral sclerosis. Hence clinical differentiation is important to prevent adverse outcomes and un-necessary treatment. Here we describe a rare case of a 46 year old Pakistani male who presented to us with progressive weakness and tingling of the limbs, bulbar symptoms, postural tremors and painful recurrent ulceration of the feet. Based on family history, clinical and electro diagnostic study he was diagnosed to have Kennedy disease. To the best of our knowledge, it is the first case report of Kennedy disease from Pakistan

Awareness of stroke among general Practitioners

Stroke is the 2nd leading cause of death and 3rd leading cause of disability after cancer and ischemic heart disease. The recognition of acute stroke symptoms and knowledge about timely and prompt referral of a patient for possible thrombolysis is a need of time for which general practitioners (as they have to be the first responders many a times across Pakistan) need to be equipped with the advance knowledge about stroke treatment

A Rare Case of Thiamine Responsive Megaloblastic Anemia Presenting with Seizures

Thiamine responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare entity inherited as an autosomal recessive disorder. It consists of a pentad of diabetes-mellitus, megaloblastic anemia, thrombocytopenia, leukopenia and sensory-neural hearing loss. The defect occurs due to mutations in SLC19A2 gene resulting in the deficiency of a thiamine transporter proteins which prevents the transport of thiamine in to the cells and tissues. Here we report a 13 year old boy with megaloblastic anemia, sensory-neural deafness and young onset diabetes mellitus who presented with generalized tonic-clonic seizures. Diagnosis was based on clinical features and a rapid response to thiamine replacement with adequate control of seizures. This clinical entity and its association with epilepsy is extremely rare and must be thought of amongst the differentials of megaloblastic anemia and epilepsy. This rare case emphasizes the unique association of TRMA with epilepsy. Early diagnosis and management with thiamine drastically improves anemia, seizure control and blood glucose levels. To the best of our knowledge, it is the first case report of TRMA with epilepsy from Pakistan

Hemichorea Associated with type 2 Diabetes: A Rare Neurological Complication

Diabetic hemichorea/hemiballism is a spectrum of hyper kinetic, involuntary, irregular, purposeless, non-rhythmic, rapid and unsustained movements flowing from one part of the body to another. It involves contra lateral basal-ganglia and often striatum of the brain. Here we are reporting an un-usual case of choreiform movement disorder which was sudden in onset. It was accompanied with abnormally high values of blood glucose. Our patient had a complete remission of symptoms after an adequate control of blood glucose was achieved. This case illustrates the importance and rarity of hyperglycemia as a rare cause of hemichorea. It recovers rapidly and has a good prognosis. Screening for hyperglycemia even in those patients without a prior history of diabetes is very important, once they present with an involuntary movement disorder. Recognition and early treatment is beneficial to prevent adverse outcomes. Today, in the medical literature it is often referred to as C-H-BG (chorea, hyperglycemia, basal ganglia) syndrome

Association of Hypomagnesaemia & Hypocalcemia with Intracerebral Hemorrhage and Outcome

Determine if hypomagnesemia & hypocalcemia on admission was associated with ICH and outcome. Magnesium is a vascular smooth muscle relaxant and appears to provide protection against cellular injury in experimental stroke models. The implication of low serum magnesium in primary ICH is not well defined. All patients with a primary ICH presented to PIMS, Islamabad prospectively analyzed in a pilot study. Demographics, initial lab values, ICH location, Mg+2 level, NIHSS & MRS at presentation were recorded. All patients with INR \u3c= 1.5 were included in this study. We took normal serum magnesium in our study was 1.8 - 2.5 mEq/dL. Statistical significance was determined using linear regression adjusting for admission systolic blood pressure (SBP). We identified 66 patients who met the inclusion criteria. The mean age was 52.76 years with minimum and maximum age was 25 and 80 years respectively. Total male and female patients were 40 (61%) and 26 (39.4%). The total number of patients with hypomagnesemia was 23 (30%) and with hypocalcemia was 54 (65%). All patients having hypomagnesemia (30%) also had subsequent hypocalcemia. Mean systolic Blood pressure (SBP) was 156.65 mmHg and 55patients (84.62%) presented with high SBP. All patients with hypomagnesemia presented with high SBP (p=0.001). Hypomagnesemia and hypocalcemia both were showed statically significant association with poor MRS & NIHSS score (p=0.013 and p=0.001). Hypomagnesemia was not showed statistically significant relation with the outcome (p=0.11) while hypocalcemia showed a remarkable association with outcome (p=0.001)

Polyneuropathy associated with iga Paraproteinemia: a case report and literature Review.

Paraproteinemia is precipitated by an accumulation of monoclonal plasma cells or B lymphocytes. Idiopathic neuropathies that are associated with paraproteinemia account for only 10% of the neuropathies. Paraprotein acts like an antibody and is targeted against myelin and axons present in the peripheral nerves. Despite being of interest for quite a long time, the caudal relationship between paraproteinemias and peripheral neuropathies still remains a sorcery. We report a case of a middle aged male who presented with pain and parasthesias in both arms and legs. His workup revealed him to be having a paraproteinemic neuropathy consistent with IgA Lambda chains that account for being the most rare type of monoclonal gammopathy than IgM or IgG having the potential to progress to smouldering multiple myeloma

Obstructive sleep apnea in middle age male smokers

OBJECTIVE: Obstructive sleep apnea is the most common type of sleep apnea. This was designed to establish the relationship between smoking and obstructive sleep apnea. Methods:This cross-sectional study was conducted at the outpatient department of Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from August 2018 to November 2018 (dates mentioned in methods are different) and comprised of males aged 30-50 years. Participants were divided into two groups of smokers and non-smokers and Berlin questionnaire was used to collect data employing systemic random sampling. SPSS 22 was used for analysis. Results:There were 768 male participants in the study equally split between smokers and non-smokers. Mean age was 39±5.76 years. Percentage of high-risk group among smokers was 36.5% and among non-smokers was 16.7%. Percentage of low risk group among smokers was 63.5% and among non-smokers was 83.3%. The odds ratio of obstructive sleep apnea was 2.87 times more in smokers than non-smokers. Conclusion:Long term smoking had a strong association with obstructive sleep apnea