Fahr's Syndrome: A Rare Case Presentation.

Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease, is a rare neurological disorder characterized by metabolic, biochemical, neuroradiological, and neuropsychiatric alterations resulting from symmetrical and bilateral intracranial calcifications. In most cases, an autosomal dominant pattern of inheritance and genetic heterogeneity is observed. Neuropsychiatric symptoms with movement disorders account for 55% of the manifestations of this disease. In this report, we present the case of a 42-year-old Pakistani male who presented to the emergency department with a sudden onset of generalized tonic muscle contractions. His medical history revealed progressive cognitive impairment, and he had a history of taking oral calcium supplements. Initial laboratory investigations showed hypocalcemia with normal magnesium and phosphate levels, while his parathyroid hormone levels were low. The interictal electroencephalogram was normal, and CT imaging of the brain without contrast revealed bilateral symmetrical dense calcifications in the basal ganglia, thalami, periventricular area, corona radiata, centrum semiovale, and dentate nucleus of the cerebellum, suggestive of Fahr disease. Intravenous calcium gluconate was administered in the emergency department, leading to an improvement in the patient's symptoms. The diagnosis of IBGC with relevant symptoms was confirmed through laboratory values and characteristic features observed in the CT examination.

Banti's Syndrome in an Adult Male: A Case Report.

Banti's syndrome is a chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia. It is also associated with cirrhosis and ascites along with symptoms of pancytopenia such as infection, bruising, weakness, and fatigue. Multiple factors such as hepatitis B infection, coagulation abnormalities and exposure to arsenic, etc. may also cause Banti's syndrome. Clinical evaluation with blood profile along with use of imaging studies such as MRI and splenic venography is utilized for the determination of Banti's syndrome. In this report, we present a 29-year-old diabetic male who presented with abdominal distention, right leg cellulitis, fever, and a past history of hematemesis and melena. On examination, distended abdomen showed marked splenomegaly with ascites (positive shifting dullness and fluid thrill). Also, the left leg was warm, swollen, and tender to the touch. Complete blood count showed decreased WBC, RBC, Hb, with peripheral smear negative for malarial parasites. Ultrasound scan of abdomen and pelvis was done illustrating massive splenomegaly with pelvic dilation and ascites.

A Rare Case of Hereditary Hemorrhagic Telangiectasia: A Case Report.

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a very rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucus membranes (called telangiectasia), and organs such as the lung, liver, and brain. It occurs due to a mutation in one of the ACVRL1, ENG, and SMAD4 genes, which code for the formation of blood vessels. The most common symptom is recurring nosebleed (epistaxis; due to rupture of nasal mucosal telangiectasia), which begins in childhood and affects about 90-95% of people with HHT. Other common signs and symptoms include punctate, linear, or splinter-like telangiectasias on the upper body, oral mucosa, or nail beds, gastrointestinal bleeding, and iron deficiency anemia. The diagnostic criteria currently in use are the Curaçao criteria. The diagnosis is made by clinical screening (e.g., history and physical exam), baseline investigations (complete blood count, hemoglobin, hematocrit, and ferritin level), genetic testing, and detailed medical imaging to detect visceral arteriovenous malformations (AVMs) such as esophagogastroduodenoscopy, colonoscopy, multiphase contrast CT, computed tomography angiography (CTA or CT Angio), magnetic resonance angiography (MRA), chest X-ray, Doppler ultrasonography, liver biopsy, and cerebral angiography. Management includes intravenous iron therapy or blood transfusion, antifibrinolytics (e.g tranexamic acid), ablation therapies (e.g. laser treatment, radiofrequency ablation, electrosurgery, sclerotherapy, and argon plasma coagulation), and systemic anti-angiogenic agents (e.g. thalidomide, bevacizumab). In this report, we present the case of a 22-year-old man from Swabi, Pakistan, with a history of recurrent epistaxis (nosebleed) from childhood, who presented with multiple episodes of melena (blood in stool), fatigue, palpitation, and iron deficiency anemia for five years. Multiple esophagogastroduodenoscopies (OGDs) and colonoscopies were done over the years, which showed AVM in the antrum and fundus of the stomach, duodenum, and colon, and a diagnosis of HHT was made. CTA and exploratory laparotomy showed ileal loop hemangiomas. He was managed with multiple blood transfusions, argon plasma coagulation (APC) for the AVMs, oral thalidomide, and steroids. Despite therapy, the patient had intermittent episodes of blood in stool and low blood counts. During his stay in Hayatabad Medical Complex (HMC), the patient was managed with high-frequency blood transfusion and bevacizumab (systemic anti-angiogenic agent). A dramatic reduction in the number of required transfusions and improvement in the patient's bloodlines and symptoms was noted. This case highlights the importance of endoscopic methods for the timely diagnosis of HHT and its management with intravenous bevacizumab.

Juvenile Alexander Disease: A Rare Leukodystrophy.

Alexander disease is an uncommon autosomal dominant leukodystrophy that influences the white matter of the central nervous system (CNS), predominantly affecting the frontal lobe bilaterally. The most obvious pathogenic hallmark is the extensive deposition of cytoplasmic inclusions known as "Rosenthal fibers" in perivascular, subpial, and subependymal astrocytes throughout the CNS. The hereditary cause is mutations in the glial fibrillary acidic protein (GFAP) gene. Infantile, adult, and juvenile onsets are the three subtypes. Psychomotor retardation, mile-stone regression, spastic paresis, brain stem symptoms (swallowing, speech, etc.), and seizures define the juvenile variety, which emerges between the ages of three and 10 years. Macrocephaly has a lower likelihood of being a juvenile type. It is generally diagnosed based on clinical and magnetic resonance imaging findings. A five-year-old girl is presented as a case of juvenile Alexander disease, with typical clinical and MRI features.

Frequency of Acute Viral Hepatitis A, B, C, and E in Pregnant Women Presenting to Hayatabad Medical Complex, Peshawar, Pakistan.

Objective To determine the frequency of hepatitis A, B, C, and E viruses (HAV, HBV, HCV, HEV) in pregnant women with acute hepatitis presenting to the medical units of HMC, Peshawar. Methods This is a descriptive cross-sectional study in which 442 pregnant women, either multi or primigravida, with yellow discolouration of the sclerae of the eyes and elevated alanine aminotransferase (ALT) > 100 U/L on laboratory tests were chosen by convenience (non-probability) sampling to assess the frequency of HAV, HBV, HCV, HEV. Results The majority, i.e., 58.8%, were in the age range of >30 years and presented in the third trimester. Of the subjects, 81.90% had parity in the range of 1-5, 89.4% were multigravida, 71.3% were illiterate, and 73.1% were in the low-income category. Anti-HEV was detected in 47.3% of pregnant women, Anti-HCV in 30.3%, Hepatitis B surface antigen (HBsAg) in 11.5%, Hepatitis A-IgM in 5%, and 5.90% of the cases were virus-free. Conclusions HBV, HCV, and HEV exposure, in particular, may have a substantially larger impact on pregnancy and neonatal outcomes than HAV. As a result, at the first prenatal appointment, standard viral hepatitis screening in pregnant women may need to be reviewed.

A Rare Case of Insulinoma in a Thin, Lean Adult Male: A Case Report.

Insulinoma is an insulin-secreting tumor that causes hypoglycemia due to inappropriately high insulin secretion. The Whipple's triad, which comprises indications of hypoglycemia (tremor, sweating, irritability, uneasiness, and weakness), plasma glucose concentration <55 mg/dL (3.0 mmol/L), and resolution of symptoms after administration of glucose, is utilized for the determination of insulinoma. In this report, we present the case of a thin, lean, adult male with a BMI of 22, who presented with repetitive episodes of tremor, sweating, weariness, and perplexity that occurred amid fasting and settled with meals, fulfilling Whipple's triad criteria for the determination of insulinoma. The episodes frequently led to seizures. Supervised fasting was carried out, which revealed raised C-peptide levels, low blood glucose, and negative sulfonylurea screen. A computed tomography (CT) scan localized the tumor, and surgical resection was planned.