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Full-Text Articles in Medicine and Health Sciences

Pseudotumoral Hemicerebellitis In A Young Male Sailor With Complete Recovery After Steroid Therapy, Khizer Masroor Anns, Faheem Ullah Khan, Muhammad Aman, Anwar Ahmad, Kumail Khandwala, Zainab Aslam Saeed Memon, Izaz Ahmad, Muhammad Ismail Safi Jan 2024

Pseudotumoral Hemicerebellitis In A Young Male Sailor With Complete Recovery After Steroid Therapy, Khizer Masroor Anns, Faheem Ullah Khan, Muhammad Aman, Anwar Ahmad, Kumail Khandwala, Zainab Aslam Saeed Memon, Izaz Ahmad, Muhammad Ismail Safi

Medical College Documents

Pseudotumoral hemicerebellitis is a rare presentation of acute cerebellitis, which involves the inflammation of a single cerebellar hemisphere and most commonly affects children. It mimics a tumor on imaging, hence given the name. In this report, we present a case of pseudotumoral hemicerebellitis in a 30-year-old male who presented to the emergency room (ER) with complaints of vertigo, vomiting, and a headache.


Gall Bladder Schistosomiasis Diagnosed Incidentally Post Laparoscopic Cholecystectomy: A Case Report, Willbroad Kyejo, Sajida Panjwani, Ally Zain Ismail, Blessing Mathew, Caroline Ngimba, Ally Mwanga Sep 2023

Gall Bladder Schistosomiasis Diagnosed Incidentally Post Laparoscopic Cholecystectomy: A Case Report, Willbroad Kyejo, Sajida Panjwani, Ally Zain Ismail, Blessing Mathew, Caroline Ngimba, Ally Mwanga

Internal Medicine, East Africa

Introduction and importance: Schistosomiasis is a neglected tropical disease caused by parasitic worms of the genus Schistosoma. It primarily affects the intestines, liver, and urinary tract however, rare cases have been reported where the parasite invades other organs. This case report presents an incidental finding of schistosomiasis, upon histopathology evaluation, in a patient who underwent laparoscopic cholecystectomy for symptomatic gallstone disease with recurrent attacks of cholecystitis.

Case presentation: We present the case of a 42-year-old female patient who presented to the emergency department with symptoms and signs suggestive of acute cholecystitis. She underwent conservative management with interval laparoscopic cholecystectomy …


Dorsal Pancreas Agenesis, An Incidental Finding During Acute Appendicitis Diagnosis; A Case Report, Willbroad Kyejo, Ally Zain Ismail, Sajida Panjwani, Nancy Matillya, Ahmed Jusabani, Adil Datoo, Pilly Ally Aug 2023

Dorsal Pancreas Agenesis, An Incidental Finding During Acute Appendicitis Diagnosis; A Case Report, Willbroad Kyejo, Ally Zain Ismail, Sajida Panjwani, Nancy Matillya, Ahmed Jusabani, Adil Datoo, Pilly Ally

Family Medicine, East Africa

Introduction and importance: Dorsal pancreas agenesis is a rare congenital anomaly characterized by the absence or severe underdevelopment of the dorsal pancreatic bud. We report a case of a man who presented with features of appendicitis only to the incidentally discovery of dorsal pancreas agenesis during the diagnosis of acute appendicitis. We describe our experience on radiological diagnostic formulation and work up.

Case presentation: We present the case of a 45-year-old male patient who presented to the emergency department with symptoms and signs suggestive of acute appendicitis. A computed tomography scan and laboratory investigations confirmed the diagnosis of appendicitis. Incidentally, …


Testicular Choriocarcinoma With Small Bowel Metastasis And Active Gastrointestinal Bleeding, Asad Saulat Fatimi, Khizer Masroor Anns, Faheemullah Khan, Wasim Ahmed Memon, Junaid Iqbal, Muhammad Aman, Izaz Ahmad, Sahar Fatima Jan 2023

Testicular Choriocarcinoma With Small Bowel Metastasis And Active Gastrointestinal Bleeding, Asad Saulat Fatimi, Khizer Masroor Anns, Faheemullah Khan, Wasim Ahmed Memon, Junaid Iqbal, Muhammad Aman, Izaz Ahmad, Sahar Fatima

Medical College Documents

Testicular choriocarcinomas make up less than 1% of all germ-cell tumors and are highly malignant, attributable to hematogenous spread. While the most common sites of metastasis are the lungs and liver, metastatic spread to the gastrointestinal tract is rare wherein patients may present with GI distress or even an upper GI bleed. In this report, we present a case of known testicular choriocarcinoma in a 40-year-old male who presented to the emergency room with severe anemia and a suspected upper GI bleed.


Chronic Diarrhea: A Rare Presentation Of Hodgkin's Lymphoma, Saira Furqan, Sajjad Ali Khan, Dania Ali, Kaleemullah Badini Nov 2022

Chronic Diarrhea: A Rare Presentation Of Hodgkin's Lymphoma, Saira Furqan, Sajjad Ali Khan, Dania Ali, Kaleemullah Badini

Section of Diabetes, Endocrinology and Metabolism

Hodgkin's Lymphoma is a cancer affecting the lymphatic system. There are two subtypes of Hodgkin's Lymphoma: Nodular lymphocyte predominant (NLPHL) and classical Hodgkin's Lymphoma which has further four types. It has a bimodal distribution and is more common among males. The most common presentation is painless swelling in the neck, armpit or groin region. Associated Symptoms include night sweats, unintentional weight loss, fever, persistent cough or dyspnea. Involvement of the gastrointestinal tract is a rare occurrence. Diagnosis is based on hematological, radiological and histochemical studies. Here we report a rare presentation of a 47-year-old male who presented with symptoms of …


Diagnostic Challenge Of Perimenopause Molar Pregnancy In A 52-Year-Old Lady: Case Report, Willbroad Kyejo, Davis Rubagumya, Gregory Ntiyakuze, Nancy Matillya, Munawar Kaguta, Miriam Mgonja, Lynn Moshi Oct 2022

Diagnostic Challenge Of Perimenopause Molar Pregnancy In A 52-Year-Old Lady: Case Report, Willbroad Kyejo, Davis Rubagumya, Gregory Ntiyakuze, Nancy Matillya, Munawar Kaguta, Miriam Mgonja, Lynn Moshi

Family Medicine, East Africa

Introduction and importance: Gestational trophoblastic disease is an uncommon group of pregnancy-related dis- orders, with a course of trophoblastic proliferation, including hydatidiform mole (Agha et al., 2020), invasive and metastatic mole, choriocarcinoma, placental-site trophoblastic tumor, and epithelial trophoblastic tumor. Choriocarcinoma and trophoblastic tumor of the placenta are the most important tumors associated with pregnancy.

Case findings: A 52-year-old woman Para 2 Living 3, 3 years post-menopausal presented with prolong per vaginal bleeding for five weeks accompanied by lower abdominal pain. Diagnosis of gestational trophoblastic disease (choriocarcinoma type) was made by using beta HCG, radiology, and histology report. Patient underwent total …


Pregnancy Following Robot-Assisted Laparoscopic Bilateral Endometriotic Cystectomy Rare Case Report Of Endometriosis Stage Iv, Willbroad Kyejo, Ally Zain Ismail, Brenda Moshi, Gregory Ntiyakunze, Nancy Matillya, Munawar Kaguta Sep 2022

Pregnancy Following Robot-Assisted Laparoscopic Bilateral Endometriotic Cystectomy Rare Case Report Of Endometriosis Stage Iv, Willbroad Kyejo, Ally Zain Ismail, Brenda Moshi, Gregory Ntiyakunze, Nancy Matillya, Munawar Kaguta

Family Medicine, East Africa

Introduction and importance: Endometriosis is a common cause of infertility in women. In this case report we explain successful conception in deep-infiltrating ovarian endometriosis following robot-assisted surgery and androgenic agonist treatment.

Case presentation: A 38-year-old current Para 2, Living 2 presented 8 years ago with chronic lower abdominal pain, dysmenorrhea, and delayed conception. Advance endometriosis was highly suspected from the history and examination. Robot-assisted laparoscopic partial cystectomy was performed for the deep-infiltrating ovarian endometriosis. She was then discharged with postoperative androgenic agonists and with timed intercourse, she got pregnant within 9 months.

Clinical discussion: Advanced endometriosis (Stage III or …


Shortness Of Breath In A Young Lady, Rare Case Report Of Thoracic Endometriosis, Willbroad Kyejo, Ally Zain Ismail, Davis Rubagumya, Rahma Bakari, Munawar Kaguta, Nancy Matillya Jun 2022

Shortness Of Breath In A Young Lady, Rare Case Report Of Thoracic Endometriosis, Willbroad Kyejo, Ally Zain Ismail, Davis Rubagumya, Rahma Bakari, Munawar Kaguta, Nancy Matillya

Family Medicine, East Africa

Introduction and importance: Endometrial glandular tissue can implant in the thorax of women suffering from endometriosis. The clinical presentation is depends on site of implantation. Complications include pneumothorax, pneumohemothorax or hemothorax.

Case presentation: A 31 year old woman with history of infertility presented with shortness of breath and was found to have a significant right sided pneumohemothorax. Drainage was done followed by chemical pleurodesis using bleomycin with resolution of symptoms on her follow up.

Clinical discussion: Thoracic endometriosis tend to present with chronic or sub-acute symptoms which are nonspecific symptoms leading to late diagnosis. Video Assisted Thoracoscopic surgery offer both …


Lenalidomide Induced Secondary Acute Lymphoblastic Leukemia In A Multiple Myeloma Patient: A Case-Report, Saqib Raza Khan, Muhammad Tariq, Sidra Malik Fayyaz, Salman Muhammad Soomar, Munira Moosajee Apr 2022

Lenalidomide Induced Secondary Acute Lymphoblastic Leukemia In A Multiple Myeloma Patient: A Case-Report, Saqib Raza Khan, Muhammad Tariq, Sidra Malik Fayyaz, Salman Muhammad Soomar, Munira Moosajee

Section of Haematology/Oncology

Lenalidomide mechanism of action has been shown to modulate the different components of the immune system. A 68-year-old lady presented to us with severe backache and was then diagnosed with MM. Lenalidomide started as per protocol along with dexamethasone. Later, she presented with complaints of generalized weakness and her workup showed significant blast cells with Pan-B-cell markers consistent with secondary B-ALL. The reported incidence of secondary Acute Lymphocytic Leukemia is 2.3%. The development of more aggressive neoplasm in a patient with prior malignancy dictates a poor outcome and hence such patients should be enrolled in a clinical trial whenever available


A Case Report Of Minimally Invasive Percutaneous Ultrasound Guided Tuberculous Iliopsoas Abscess Drainage In An Immunocompromised Patient, Allyzain Ismail, Neelam Ismail, Athar Ali, Shabbir Adamjee, Ahmed Jusabani, Zainab Fidaali Mar 2022

A Case Report Of Minimally Invasive Percutaneous Ultrasound Guided Tuberculous Iliopsoas Abscess Drainage In An Immunocompromised Patient, Allyzain Ismail, Neelam Ismail, Athar Ali, Shabbir Adamjee, Ahmed Jusabani, Zainab Fidaali

General Surgery, East Africa

Introduction and importance: Iliopsoas abscess is a collection of pus that presents with nonspecific features with often delays in diagnosis however cause significant morbidity and mortality with Mycobacterium tuberculosis to be considered as causative agent in at risk individuals in tuberculous endemic regions. Management involves drainage and initiation of adequate antibiotics with radiological guided percutaneous approach considered the appropriate initial approach.

Case presentation: 50-year-old immunosuppressed presenting with left iliopsoas abscess who underwent ultrasound guided drainage and placement of pigtail catheter successfully without the need for open surgical drainage. Our experience of interventional radiology for diagnosis of causative agent and treatment …


Pulmonary Adenoid Cystic Carcinoma Presenting Late With Intrapericardial Extension: Case Report, Manzar Abbas, Usama Qamar, Syeda Maria Ahmad Zaidi, Faiqa Binte Aamir, Ali Aahil Noorali, Haseeb Ur Rahman, Saulat Hasnain Fatimi Feb 2022

Pulmonary Adenoid Cystic Carcinoma Presenting Late With Intrapericardial Extension: Case Report, Manzar Abbas, Usama Qamar, Syeda Maria Ahmad Zaidi, Faiqa Binte Aamir, Ali Aahil Noorali, Haseeb Ur Rahman, Saulat Hasnain Fatimi

Medical College Documents

Adenoid cystic carcinoma, also known as cylindroma, is one of the rare and unexplored clinical presentations of lung cancer, for which existing knowledge is scarce. This case report discusses a presentation of this tumor in the right lung, which subsequently extended to the left atrium through the right superior pulmonary vein. The extension of this rare tumor into the left atrium makes this case both uniquely distinctive and clinically relevant. The management strategy opted for this case was a right posterolateral thoracotomy and right pneumonectomy with partial resection of the left atrium. The desired outcome of this report is to …


Covid-19 Bbibp-Corv Vaccine And Transient Heart Block - A Phenomenon By Chance Or A Possible Correlation - A Case Report, Pirbhat Shams, Jamshed Ali, Sheema Saadia, Aamir Hameed Khan, Fateh Ali Tipoo Sultan, Javed Tai Nov 2021

Covid-19 Bbibp-Corv Vaccine And Transient Heart Block - A Phenomenon By Chance Or A Possible Correlation - A Case Report, Pirbhat Shams, Jamshed Ali, Sheema Saadia, Aamir Hameed Khan, Fateh Ali Tipoo Sultan, Javed Tai

Section of Cardiology

Importance: Bradyarrhythmia during COVID19 illness carries prognostic significance. Electrophysiological side effects of COVID19 vaccine remain largely unknown. It is imperative to report nature of cardiovascular side effects of the vaccine.
Case presentation: An 80 years-old-man presented with complains of dizziness, trepidation and shortness of breath following his first shot of COVID-19 BBIBP-CorV (Sino-pharm). ECG on arrival showed 2:1 atrioventricular block with an underlying old left bundle branch block. The AV block changed into Mobitz type-I over the course of next 2 days and into a sinus 1:1 conduction on fourth day of presentation. However, our patient underwent permanent pacemaker implantation …


Uterine Artery Embolization Combined With Methotrexate For Broad Ligament Ectopic Pregnancy In A 30-Year Old Primigravida, Khurram Khaliq Bhinder, Azza Sarfraz, Zouina Sarfraz, Shaista Riaz, Samreen Aslam, Zouina Ameena Jun 2021

Uterine Artery Embolization Combined With Methotrexate For Broad Ligament Ectopic Pregnancy In A 30-Year Old Primigravida, Khurram Khaliq Bhinder, Azza Sarfraz, Zouina Sarfraz, Shaista Riaz, Samreen Aslam, Zouina Ameena

Department of Paediatrics and Child Health

We present the case of 30-year old primigravida female at 11 weeks' gestation who was diagnosed to have ectopic pregnancy on obstetric ultrasound. An MRI pelvis was ordered to assess invasion into the posterior myometrium which confirmed a single right-sided broad ligament-extra uterine pelvic ectopic pregnancy with extrinsic mass effect on the right lower uterine segment without frank myometrial invasion. On an urgent basis, a uterine artery embolization (UAE) was performed by targeting the right femoral artery. Selective catheterization was performed of both uterine arteries and the right side showed a major feeder of the gestational sac. Supplied dose of …


Eccrine Spiradenoma: A Rare Adnexal Tumour With Atypical Presentation: A Case Report, Adnan Salim, Muhammad Usman Tariq, Sana Zeeshan Feb 2021

Eccrine Spiradenoma: A Rare Adnexal Tumour With Atypical Presentation: A Case Report, Adnan Salim, Muhammad Usman Tariq, Sana Zeeshan

Section of Neurosurgery

First described in 1934, eccrine spiradenoma (ES) is a rare, benign adnexal tumour arising from eccrine sweat glands. It commonly presents as a slow-growing nodule on the upper trunk, and head and neck region, mostly in the age bracket of 15-35 years, with no gender preference. While no established guidelines exist for optimal management of malignant ES, some therapies have been studied. The diagnosis of this entity is extremely important as it can harbour a malignant component with disastrous outcomes which may be missed due to its strong resemblance to benign lesions, such as a papilloma. Here, we present the …


Bilateral Systematised Epidermolytic Epidermal Nevus: A Case Report, Sabeika R. Kerawala, Najam-Us-Saher Rizvi, Saadia Tabassum Feb 2021

Bilateral Systematised Epidermolytic Epidermal Nevus: A Case Report, Sabeika R. Kerawala, Najam-Us-Saher Rizvi, Saadia Tabassum

Section of Internal Medicine

Verrucous epidermal nevi (VEN) are benign congenital hamartomas consisting of keratinocytes. Histological examination mostly exhibits hyperkeratosis, acanthosis, papillomatosis and, rarely, the features of epidermolytic hyperkeratosis (EHK). We report a case of a 6-year-old boy who presented at Aga Khan University Hospital, Karachi, Pakistan with bilaterally symmetrical linear epidermal nevi following Blaschko's lines and showing epidermolytic hyperkeratosis on histology. The patient was treated with topical keratolytics and emolients which led to considerable improvement. To the best of the authors' knowledge, this is the first report of VEN from Pakistan.


X-Linked Hypophosphatemic Osteomalacia With Phex Mutation Presenting Late In Pakistan, Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan Jan 2021

X-Linked Hypophosphatemic Osteomalacia With Phex Mutation Presenting Late In Pakistan, Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Abstract.introduction.and.importance: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.
Case presentation: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth.
Clinical discussion: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the …


Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan Jan 2021

Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Introduction and importance: Hajdu Cheney Syndrome (HCS) is a rare skeletal disease characterized by severe, progressive focal bone loss with osteoporosis, variable craniofacial, vertebral anomalies and distinctive facial features. It is inherited as an autosomal dominant disease although sporadic cases have been described in literature. Identifying these cases in clinical practice is important for proper diagnosis and management.
Case presentation: We report a case of a 36-year-old male patient presented at metabolic bone disease clinic at the Aga Khan University Hospital with history of multiple fragility fractures and juvenile osteoporosis since childhood. DNA sequence analysis of the NOTCH2 coding sequence …


Anorectal Malformation, Associated With Colon Atresia And Intestinal Malrotation, A Case Report, Allyzain Ismail, Lazaro Mboma, Victor Ngotta, Masawa Nyamuryekung'e Jan 2021

Anorectal Malformation, Associated With Colon Atresia And Intestinal Malrotation, A Case Report, Allyzain Ismail, Lazaro Mboma, Victor Ngotta, Masawa Nyamuryekung'e

Internal Medicine, East Africa

Introduction and importance: In this case report from Muhimbili National Hospital, Dar es salaam, Tanzania, we present the unexpected findings of anorectal malformation, colonic atresia, and intestinal malrotation in a 2-day old neonate. This combination is exceedingly rare, with only case reports published in the literature. We describe the challenges in diagnosis and offer our insights based on this experience and review of the literature.

Case presentation: Our patient was a male born at term, weighing 2600 g, diagnosed clinically with a high anorectal malformation. He was planned for colostomy, and we unexpectedly found a collapsed descending colon. Exploration revealed …


Post-Vaccination Pharyngeal-Cervical-Brachial Variant Of Guillain-Barré Syndrome, Funmilola T. Taiwo, Daniel E. Ezuduemoih, Philip Adebayo Jul 2020

Post-Vaccination Pharyngeal-Cervical-Brachial Variant Of Guillain-Barré Syndrome, Funmilola T. Taiwo, Daniel E. Ezuduemoih, Philip Adebayo

Internal Medicine, East Africa

The pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré syndrome (GBS) is very rare. It is characterized by weakness of the upper extremities associated with bulbar symptoms and facial diplegia. Documented cases were post-infectious, a post-vaccination occurrence has not been documented in the available literature. Even rarer is the occurrence of any variant of GBS following the mumps measles rubella (MMR) vaccine. The neurophysiological hallmark of PCB variant of GBS is a combination of myelinopathy and axonopathy, hence, its consideration as a subtype of the acute motor axonal neuropathy (AMAN) variant. It should be suspected in any case of acute-onset flaccid symmetrical weakness …


Case Report: Lady With Bone Pains For 5 Years-Parathyroid Carcinoma, Azra Rizwan, Abid Jamal, Maseeh Uz Zaman, Saira Fatima Aug 2018

Case Report: Lady With Bone Pains For 5 Years-Parathyroid Carcinoma, Azra Rizwan, Abid Jamal, Maseeh Uz Zaman, Saira Fatima

Section of Diabetes, Endocrinology and Metabolism

Background: Parathyroid cancer is a rare cause of primary hyperparathyroidism. It presents a diagnostic and therapeutic challenge that may not be recognized preoperatively, and is often not conclusively identified during the operation. We present the case of a lady with backache and hypercalcemia, but with inadequate work-up for her condition for several years.

Case Presentation: A middle aged lady of Asian descent presented with backache. Initial work up revealed mild hypercalcemia, negative work up for multiple myeloma, negative sestamibi scan for parathyroid pathology. A phenomenally elevated parathormone (PTH) level-2105 pg/mL (16-87 pg/mL), and rising serum calcium, 15.1 mg/dL, (8.6-10.5 …


Bone Graft Donor Site Infection With A Rare Organism, Aeromonas Hydrophila: A Typical Location, Presentation And Organism With 2 Years Follow-Up: Case Report, Obada Hasan, Wajiha Khan, Muneeba Jessar, Aly Zaheer Pathan, Riaz Hussain Lakdawala Aug 2018

Bone Graft Donor Site Infection With A Rare Organism, Aeromonas Hydrophila: A Typical Location, Presentation And Organism With 2 Years Follow-Up: Case Report, Obada Hasan, Wajiha Khan, Muneeba Jessar, Aly Zaheer Pathan, Riaz Hussain Lakdawala

Section of Orthopaedic Surgery

Introduction: Aeromonas are Gram-negative bacilli often causing necrotizing fasciitis or sepsis in immunocompromised patients. Aeromonas Hydrophila is most often found in immunocompromised patients or those with burns or aquatic trauma. When patients present with a discharge and infection on bone graft donor site and progressive sepsis, an Aeromonas hydrophila infection should be considered in the differential diagnosis.
Presentation of Case: We report here a rare case of Aeromonas hydrophila with surgical site sep- sis/infection in an immunocompromised 69 years old female, with several comorbids. Here we are reporting infection on donor surgical graft site, sparing major surgical site with the …


Psoas Abscess Masquerading As A Prosthetic Hip Infection: A Case Report, Muhammad Atif, Azeem Tariq Malik, Shahryar Noordin Nov 2017

Psoas Abscess Masquerading As A Prosthetic Hip Infection: A Case Report, Muhammad Atif, Azeem Tariq Malik, Shahryar Noordin

Section of Orthopaedic Surgery

Introduction: Psoas abscess is an unusual condition and is defined as a collection of pus in the iliopsoas compartment. Due to the unique anatomy of psoas muscle it forms a conduit for spread of infection from upper part of body to hip joint in neglected cases.
Case Presentation: A 67year old lady presented with left groin pain for three weeks. She underwent an uncemented unipolar hemiarthoplasty eight years back. Currently, she developed fever and was unable to do any active left hip range of motion. Passive motion of the left hip was restricted to 30° flexion, no internal rotation, 5° …


Recurrent Renal Cancer In Birt-Hogg-Dube Syndrome: A Case Report, Hammad Ather, Nida Zahid Nov 2017

Recurrent Renal Cancer In Birt-Hogg-Dube Syndrome: A Case Report, Hammad Ather, Nida Zahid

Department of Surgery

Introduction: Birt-Hogg-Dube syndrome (BHDS) is a rare autosomal dominant disease. It is caused by constitutional mutations in the FLCN gene. Since BHDS is a rare syndrome therefore it is unknown to many physicians. However, it is important to identify this rare syndrome at early stages because incidence of renal cancer in BHD patients is very high and its detection at early stages can prevent its metastasis. Hence, we want to present a case of BHDS and draw the attention of the treating physician to this rare inherited disorder and discuss its appropriate diagnosis and management.CASE PRESENTATION: We present a case …


Twiddlers Syndrome Presenting As Life Threatening Electrical Storm, Shahrukh Hashmani, Aamir Hameed Khan Oct 2017

Twiddlers Syndrome Presenting As Life Threatening Electrical Storm, Shahrukh Hashmani, Aamir Hameed Khan

Section of Cardiology

A 75-year-old man underwent implantation of a single chamber implantable cardioverter defibrillator (ICD) for primary prevention of his underlying severe non-ischaemic cardiomyopathy. Thirteen months later, he presented to the emergency room(ER) with inappropriate ICD shocks as a result of over sensing of the right ventricular lead and double counting of the right atrial signals. The chest X-ray (CXR) revealed a right ventricular ICD lead displaced into the right atrium with coiling in the pocket. The right ventricular shocking coil was noted at the tricuspid annulus. The lead was removed from the pocket and was replaced with a new lead. This …


Primary Adrenal Non-Hodgkin Lymphoma: A Case Report And Review Of The Literature, Nanik Ram, Owais Rashid, Saad Farooq, Imran Ulhaq, Najmul Islam Apr 2017

Primary Adrenal Non-Hodgkin Lymphoma: A Case Report And Review Of The Literature, Nanik Ram, Owais Rashid, Saad Farooq, Imran Ulhaq, Najmul Islam

Section of Diabetes, Endocrinology and Metabolism

Background: Lymphomas are cancers that arise from the white blood cells and have been traditionally divided into two large subtypes: Hodgkin and non-Hodgkin lymphoma. B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma; almost 85% of patients with lymphoma have this variant. Lymphomas can potentially arise from any lymphoid tissue located in the body; however, primary adrenal non-Hodgkin lymphoma is extremely rare. We report the history, examination findings, and laboratory results of a 50-year-old man diagnosed with a primary left adrenal diffuse large B-cell lymphoma.

CASE PRESENTATION: A 50-year-old Pakistani man presented to our hospital with progressively increasing pain …


Massive Pulmonary Embolism Presenting As Seizures, Shahrukh Hashmani, Fateh Ali Tipoo Sultan, Murtaza Kazmi, Amammarah Yasmeen Dec 2016

Massive Pulmonary Embolism Presenting As Seizures, Shahrukh Hashmani, Fateh Ali Tipoo Sultan, Murtaza Kazmi, Amammarah Yasmeen

Department of Pathology and Laboratory Medicine

Pulmonary embolism can present in various ways, though seizure activity has been rarely reported. We report a 38 years old male who had met a road traffic accident, underwent surgery, presented a month later with seizures, chest pain, shortness of breath and low blood pressure. Massive pulmonary embolism was diagnosed on CTPA, with classical features on ECG and echocardiogram and the patient was successfully managed with thrombolysis. Massive pulmonary embolism (MPE) should be kept in mind in patients who present with seizures, chest pain and haemodynamic instability.


Aneurysm In The Anterior Inferior Cerebellar Artery-Posterior Inferior Cerebellar Artery Variant: Case Report And Review Of Literature, Saad Akhtar, Abdul Azeem, , Amyna Jiwani, Gohar Javed Mar 2016

Aneurysm In The Anterior Inferior Cerebellar Artery-Posterior Inferior Cerebellar Artery Variant: Case Report And Review Of Literature, Saad Akhtar, Abdul Azeem, , Amyna Jiwani, Gohar Javed

Department of Surgery

Abstract

INTRODUCTION:

There are variations in the anatomy of the vertebrobasilar system amongst which the Anterior Inferior Cerebellar Artery-Posterior Inferior Cerebellar Artery (AICA-PICA) variant is thought to have a prevalence of 20-24% (based on retrospective studies). Despite this, aneurysms of the AICA-PICA variant are rare. We present a case of an AICA-PICA aneurysm and discuss its presentation and management, along with a review of literature.

PRESENTATION OF CASE:

We describe the case of a 35 year old female who presented with signs of meningismus. On the basis of radiological imaging it was initially misdiagnosed as a thrombosed arteriovenous malformation (AVM). …


Severe Propylthiouracil-Induced Hepatotoxicity In Pregnancy Managed Successfully By Liver Transplantation: A Case Report, Evan Sequeira, Sikolia Wanyonyi, Raj Dodia Sep 2011

Severe Propylthiouracil-Induced Hepatotoxicity In Pregnancy Managed Successfully By Liver Transplantation: A Case Report, Evan Sequeira, Sikolia Wanyonyi, Raj Dodia

Obstetrics and Gynaecology, East Africa

Introduction: Propylthiouracil-induced severe hepatotoxicity is a relatively rare occurrence, with very few cases reported in the literature. The management of this complication in pregnancy can be a challenge because of the effects of the various treatment options on the fetus.

Case presentation: We report a rare case of fulminant hepatic failure in a 36-year-old gravida 2 black woman of African descent that occurred at 17 weeks gestation following propylthiouracil treatment for Graves’ disease. Her liver failure was managed by liver transplantation and thyroidectomy. Her pregnancy was continued to term, though with not so favorable early childhood sequelae.

Conclusion: This case …


Isolated Adult Hypoganglionosis Presenting As Sigmoid Volvulus: A Case Report., Irfan Qadir, Muhammad Musa Salick, Abrar Barakzai, Hasnain Zafar Sep 2011

Isolated Adult Hypoganglionosis Presenting As Sigmoid Volvulus: A Case Report., Irfan Qadir, Muhammad Musa Salick, Abrar Barakzai, Hasnain Zafar

Department of Surgery

Introduction:Isolated hypoganglionosis is a rare cause of intestinal innervation defects. It is characterized by sparse and small myenteric ganglia, absent or low acetylcholinesterase activity in the lamina propria and hypertrophy of the muscularis mucosae, principally in the region of the colon and rectum. It accounts for 5% of all intestinal neuronal malformations. To the best of our knowledge, only 92 cases of isolated hypoganglionosis were reported from 1978 to 2009. Isolated hypoganglionosis usually manifests as enterocolitis or poor bowel function, and is diagnosed in infancy or childhood. We report the first case of isolated hypoganglionosis presenting with sigmoid volvulus …


Resistant Thyrotoxicosis In A Patient With Graves Disease: A Case Report, Taimur Saleem, Aisha Sheikh, Qamar Masood Aug 2011

Resistant Thyrotoxicosis In A Patient With Graves Disease: A Case Report, Taimur Saleem, Aisha Sheikh, Qamar Masood

Section of Diabetes, Endocrinology and Metabolism

Background: Conventional management of thyrotoxicosis includes antithyroid drugs, radioactive iodine, and surgery while adjunctive treatment includes beta-blockers, corticosteroids, inorganic iodide and iopanoic acid. Very rarely, patients may be resistant to these modalities and require additional management.

Case Presentation: A 50-year-old lady presented with weight loss and palpitations diagnosed as atrial fibrillation. Her past history was significant for right thyroid lobectomy for thyrotoxicosis. Thyroid functions tests at this presentation showed free T4 of 6.63 ng/dl (normal range: 0.93-1.7) and TSH of <0.005 μIU/mL (normal range: 0.4-4.0). She was given aspirin, propranolol, heparin and carbimazole; however free T4 failed to normalize. Switching to propylthiouracil (PTU) did not prove successful. She was then given high doses of prednisolone (1 mg/kg/day) and lithium (400 mg twice daily) which prepared the patient for radioactive iodine treatment by reducing free T4 levels (2.82 ng/dl). Two doses of radioactive iodine were then administered 6 months apart. Subsequently she became hypothyroid and was started on thyroid replacement therapy.

Conclusion: This case highlights management options in patients with resistant thyrotoxicosis. Radioactive iodine and surgery are definitive modes …