There's More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient.

Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), optic atrophy (OA), and deafness (D). We present a case of a 25-year-old diabetic patient, using insulin for 15 years, who had increasing polyuria and polydipsia, along with progressive hearing and vision loss. Laboratory tests revealed elevated hemoglobin A1c (HbA1c) and blood sugar levels. Optic nerve, optic chiasm, pons, and brain stem atrophy was seen on magnetic resonance imaging (MRI) of brain. After workup, a diagnosis of DI was made. Once the diagnosis was reached, treatment with subcutaneous insulin and nasal desmopressin improved patient's symptoms. In juvenile diabetic patients presenting with new onset or worsening polyuria and polydipsia, the possibility of WS should be considered. Early diagnosis and initiation of appropriate management leads to improved outcomes and the quality of life.

A Rare Case Of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.

Acrodermatitis Enteropathica is a rare hereditary condition characterized by perioral dermatitis, diarrhoea, and alopecia. Aetiology includes autosomal recessive inheritance and acquired causes such as protein malnutrition, malabsorption syndromes, premature births, parenteral nutrition, chronic illnesses, and alcoholism. We report a rare case of a 12-year-old boy who presented with cutaneous manifestations involving the whole body, diarrhoea, and sparse hairs. A low level of plasma zinc, and alkaline phosphatase level was found, and he was started on zinc supplements. He significantly improved in a few days, and was discharged after counselling the parents about treatment compliance. This case highlights importance of early diagnosis, and the importance of treatment compliance in Acrodermatitis Enteropathica. It also stresses the need to take measures to ensure the provision of health facilities especially in remote areas.

Appearance Says It All; A Rare Case Of Hypohidrotic Ectodermal Dysplasia.

Ectodermal Dysplasia (ED) is a rare genetic condition characterized by the involvement of ectoderm derivatives such as hair, nail, sweat glands, and teeth. It has many variants, but the two most common ones are hypohidrotic/anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. Herein, we present a case of a 20-year-old female with hypohidrotic ectodermal dysplasia who had anodontia, hypohidrosis, and hypotrichosis, and her condition went unrecognized until she was seen for gastroenteritis at a tertiary care center. This case report will help spread education and awareness regarding such a rare and under-recognized condition. Early diagnosis and intervention help improve the quality of life.

Rare case of dengue encephalitis with extensive brain lesions from Pakistan.

Dengue infection is common in 129 countries including Pakistan, with an estimated 390 million dengue virus infections per year. Asia accounts for 70% of the actual burden. Clinical signs and symptoms of dengue include a high fever (40°C/104 °F) accompanied by two of the following symptoms during the febrile phase: severe headache, pain behind the eyes, muscle and joint pains, nausea, vomiting, swollen glands and rash. Severe dengue is a potentially fatal complication, due to plasma leaking, fluid accumulation, respiratory distress, severe bleeding or organ impairment. Dengue virus does not usually cause neurological manifestations, unlike other arboviral infections. Encephalopathy is the most common neurological complication. Encephalitis is rare manifestation. We report a rare case of dengue encephalitis from Pakistan, with extensive brain lesions involving the thalamus, cerebellar vermis and frontoparietal periventricular regions. Therefore, we suggest dengue encephalitis should be considered in the differential diagnosis of fever with altered sensorium, especially in Asian countries such as Pakistan where dengue is rampant as dengue encephalitis can be fatal at times.

Case of steroid refractory dengue myositis responsive to intravenous immunoglobulins.

Dengue is an arbovirus infection that usually presents with the symptoms of high-grade fever, myalgia and rash. Dengue is spread by the Aedes aegypti mosquito and frequent outbreaks are being reported in regions like Pakistan, India and Sri Lanka. Although muscle ache is quite common with dengue fever, overt myositis is of very rare occurrence. Here, we report a case of a young girl who presented to us with serologically confirmed dengue infection, and having bilateral upper and lower limb weakness. Her raised creatine kinase, along with her electromyography pattern was suggestive of myositis. Her condition was steroid-resistant and responded only to intravenous immunoglobulin. She was discharged in a stable condition.

Concurrent thrombotic thrombocytopenic purpura and Guillian Barre Syndrome post infectious diarrhea.

Thrombotic thrombocytopenic purpura (TTP) characterized by microangiopathic hemolytic anemia, thrombocytopenia and signs of organ dysfunction, is due to either congenital or acquired deficiency of ADAMTS13 gene. Guillian Barre Syndrome (GBS) is a post infectious disorder, most commonly associated with C. jejuni infection. Both conditions have high mortality if untreated and have been reported with other comorbid conditions. We found only one case report of sequential TTP and GBS. However, we report the first case of concurrent TTP and GBS infection in a 22 years old female after bloody diarrhea, successfully managed by symptomatic treatment, sessions of plasmapheresis, and hemodialysis. TTP and GBS have both been associated with bacterial and viral infections, and antibodies formed against them may result in cross reactivity due to molecular mimicry. It is suggested although unproven that in such cases, patients likely developed cross-reactivity against both platelet and neurogenic glycoproteins (the linking antigen) following predisposing infection.

Electroencephalography Patterns of Subacute Sclerosing Panencephalitis.

INTRODUCTION AND BACKGROUND: This article explores the electroencephalography (EEG) pattern in patients of suspected subacute sclerosing panencephalitis (SSPE) visiting Lady Reading Hospital, Peshawar. Pakistan has a huge deficit of research culture, and limited studies are done on this topic. This study concluded that a typical pattern is the most common EEG pattern, although atypical and normal EEG patterns were also observed. It is worth inclusion into the existing literature and may be used for future literature review of similar studies done elsewhere in Pakistan to give a wider perspective comprised of a larger sample size - integrating all studies. OBJECTIVE:  To determine the frequency of different patterns of EEG (typical, atypical, and normal) in SSPE patients. METHODOLOGY:  Seventy-seven patients of both male and female genders between ages one to 20 years, who were diagnosed with SSPE, were included in the study. Dyken's criteria were used to diagnose the patients. A prior history of previous measles infection with signs and symptoms suggestive of SSPE and positive anti-measles IgG antibodies in the cerebrospinal fluid (CSF) was found in all the patients included in the study. Besides this, typical EEG patterns and raised CSF globulin levels were also used for confirmation of the diagnosis. All the patients fulfilling the above criteria and presenting to the neurology department of Lady Reading Hospital, Peshawar, from February 1, 2019, to November 30, 2019, were included in the study. All the patients underwent the EEG monitoring in the same EEG laboratory and were reported by the same consultant with careful exclusion of any artifacts during the study. RESULT: There were 59 (76.62%) males and 18 (23.37%) females. The mean age was 15 ± 8.6 years, and the mean duration of symptoms was 4.79 ± 1.68 months. EEG was normal in 14 (18.18%) patients, while 63 (81.81%) patients had an abnormal EEG pattern, with a majority of 53 (84.12%) patients showing periodic delta wave complexes. Only 10 (15.87%) patients showed atypical patterns. CONCLUSION:  Almost all the patients of SSPE showed periodic high-amplitude delta waves complexes, which usually occurs in patients with a disease duration of more than four months. However, further studies with a large sample size are needed for the confirmation of this observation.

Dural Venous Sinus Thrombosis Leading to Subarachnoid Hemorrhage.

Dural venous sinus thrombosis (DVST) leading to subarachnoid hemorrhage (SAH) is rarely reported in the literature. A 25-year-old primigravida with a history of pre-eclampsia presented with sudden onset headache, confusion, and loss of consciousness. Examination revealed bilateral equivocal planters and bilateral papillary edema. MRI and magnetic resonance venography (MRV) showed the right sinus thrombosis with elements of SAH. The coagulation profile was unremarkable. She was commenced on low molecular weight heparin with periodic monitoring of her Glasgow Coma Scale (GCS). Her condition started improving gradually. Repeat MRI and MRV after 10 days showed resolution of thrombosis and SAH. She was discharged with follow-up, and she was doing well on her recent visit two weeks later.

Vitamin D Levels and Bone Mineral Density in Premenopausal Women Compared to Postmenopausal Women: A Multi-Centre Study From Pakistan.

Introduction Despite the sunny climate, women in Pakistan are prone to vitamin D deficiency and subsequent low bone mineral density. The current study explores the extent of this deficiency in both pre- and postmenopausal women in our setting.  Methodology A cross-sectional study was conducted at the outpatient departments of Lady Reading Hospital and Hayatabad Medical Complex Peshawar, Pakistan during the time period between March 2018 and June 2019. Hundred premenopausal women (control group) and 100 postmenopausal women (study group) were inducted in the study. Serum vitamin D levels were determined in patients with suspected vitamin D deficiency. Bone mineral density (BMD) was determined for each patient and the cost of each scan was afforded by our department. A dual-energy x-ray absorptiometry (DEXA) scan was used to perform the bone mineral density assessment. The data was analyzed using Statistical Package for Social Sciences (SPSS) version 26 (IBM, Chicago, IL). Results Serum 25OHD concentration in postmenopausal women was significantly lower compared to premenopausal women (p<0.001). In the study group, 36.0% of women had a severe deficiency of serum vitamin D levels, whereas, in the control group, only two women suffered from severe deficiency of vitamin D. Similarly, bone mineral density was also significantly correlated with the menopausal status of the women (p<0001). It was found that three-fifths of the postmenopausal women had a low bone density. Twenty-four percent of postmenopausal women had very low BMD. In comparison, only a single premenopausal woman was found to have a Z-score of below -2.0. Conclusion The current study highlights the impact of menopause on vitamin D levels and BMD. In our study, we found a significant difference between vitamin D levels and BMD in women of reproductive age compared to postmenopausal women.

A Rare Case of Bertolotti's Syndrome in a Young Patient: A Case Report and Literature Review.

Bertolotti's syndrome is a congenital condition characterized by the sacralization of the lower lumbar vertebrae or the lumbarization of the sacral vertebrae. The cause of pain in Bertolotti's syndrome is multifactorial. This lumbosacral transitional vertebra has a prevalence of 4% to 30%. Rarely, it is considered in the differential diagnosis of low back pain in young people. Therefore, every aspect of Bertolotti's syndrome needs to be meticulously addressed, and it should be included in the differential diagnosis of chronic back pain. Herein, we present a case of Bertolotti's syndrome presented with chronic lower back pain, confirmed on X-ray and magnetic resonance imaging (MRI). He was managed with analgesics and steroids injection with regular follow-up.

Sociodemographic and Clinical Features in Patients Presented With Accidental and Deliberate Self-Poisoning: A Comparative Study from Lady Reading Hospital Medical Teaching Institution, Peshawar, Pakistan.

Objectives To evaluate the sociodemographic and clinical characteristics of patients presented with acute self-poisoning at a tertiary care hospital in Pakistan. Methods and Patients A comparative study was conducted at Lady Reading Hospital MTI between May 2018 to May 2019 for a duration of 12 months. All patients diagnosed with acute self-poisoning were included in the study. Patients with inconclusive diagnosis, who were dead prior to the arrival to the hospital, or had an incomplete history of poison exposure were excluded from the study. At the time of arrival to the emergency department, the patient was first stabilized. Patients were grouped into two according to the type of exposure, i.e., accidental self-poisoning and deliberate self-poisoning (DSP). Sociodemographic and clinical characteristics of patients were recorded in a preformed proforma. The data were analyzed using Statistical Package for the Social Sciences (SPSS) Version 26 (IBM Corp., Armonk, NY, USA). Results The mortality rate in patients with accidental poisoning was 9.62%, whereas it was 26.28% in DSP patients. Data were stratified according to the mode of poisoning, i.e., accidental vs DSP, and variables were assessed in patients who did not survive. It was found that 60% of patients who died in the accidental group were aged 0-15 years. In contrast, only one patient between aged 0-15 years died in the DSP group and the majority of the deaths occurred in those aged 25.1-35 years (31 [75.6%]). Conclusions In conclusion, women more often attempted suicide, whereas males suffered accidental poisoning more frequently. Firstly, we found a female predominance in the DSP group, whereas males were more prevalent in with young children experiencing accidental poisoning. Longer time from ingestion of poison to the arrival is associated with poor patient prognosis.

Spectrum of Morphologic Features of Lupus Nephritis According to Nephrology/Renal Pathology Society (ISN/RPS) Classification.

Introduction Lupus nephritis is one of the most important secondary glomerulopathy and a significant cause of chronic renal failure. Early diagnosis is key to improved prognosis. The International Society of Nephrology/Renal Pathology Society (ISN/RPS) classification stratifies renal biopsy evaluation in different classes that correlates with clinical renal outcome. In the current study, we aimed to evaluate the proportion of patients in each class of lupus nephritis in our population. Methods We evaluated renal biopsies of 128 patients that fulfilled the clinical and serologic criteria of lupus nephritis. The histologic classification was done according to the ISN/RPS classification, and immunofluorescence studies were performed. Active and chronic lesions were assessed on renal biopsy, and association of different histopatholgic parameters with lupus classes was done. Results The mean age was 28.85±12.24 years. Most of the patients were from age group ≤25 years (48.4%). Active lesions were seen in 66 (51.6%) patients, with endocapillary hypercellularity being the most common active lesion type, i.e. 81.8%. Chronic lesions were noted in 42 (32.8%) patients, with glomerular sclerosis being the most common chronic lesion type, i.e. 69%. Majority of the patients belonged to class IV (46.9%). Females were more likely to present at advanced lupus stage compared to males, and older patients (>50 years) had a higher chance to present at a late stage (class IV and higher). Active lesions were significantly found more frequently in classes III and IV, while chronic lesions were more likely to present in classes III to V. Conclusion We found that a significant proportion of patients of lupus nephritis in our population presents at an advanced stage as more than 60% patients were of class IV or higher. This signifies lack of appropriate clinical surveillance of patients and assessment of renal functions early in disease course. This also necessitates revision of our locoregional protocols to manage lupus nephritis patients and a need to perform a renal biopsy early in disease course.