Hypokalemia in a young man think Bartter syndrome type 3.

Background: Bartter syndrome is an autosomal recessive salt reabsorption disorder that results in decreased extracellular fluid volume with low/normal blood pressure. Case presentation: A 17-year-old boy with polydipsia, polyuria, weakness in the lower limbs, and ataxic gait. His Laboratory test shows hypokalemia; hypochloremia, hypomagnesemia and metabolic alkalosis. The authors' patient was managed by fluid and electrolyte replacement, which is essential in emergency management. Conclusion: Bartter syndrome is difficult to treat, and currently, there is no complete cure. The overall prognosis depends on the extent of receptor dysfunction, and despite these facts, most patients can live a normal life if they strictly follow their treatment plan.

Carcinoma in situ within the bladder trigone with an isolated metastasis to the prostate without involvement of prostatic urethra: a unique case report.

BACKGROUND: Carcinoma in situ of the bladder is a high-grade cancer that originates in the superficial layer of the bladder. It has the potential to invade nearby organs, and it can spread through blood and lymphatic circulation to distant parts of the body. CASE PRESENTATION: A 58-year-old non-smoker male presented with gross and microscopic hematuria. His family history included his father's recent bladder cancer. Initial investigations showed hematuria, inflammation, negative urine culture, digital rectal examination revealed an enlarged right lobe of the prostate, and an elevated Prostate-Specific Antigen level. Histopathological examination of samples taken from the bladder mucosa and the prostate confirmed urothelial carcinoma in situ in the bladder and prostate. Further evaluation revealed no other metastasis. The tumor was classified as T4aN0M0. The patient underwent radical cystoprostatectomy and histopathological examination showed that the tumor invading the muscularis propria of the bladder as well as the prostatic glands, but no malignancy was found in prostatic urethra and other areas. The patient was discharged three weeks post-operation and completed on adjuvant chemotherapy consisting of Gemcitabine, and Cisplatin to prevent of relapse. The patient is currently in a good healthy. CONCLUSION: The occurrence of bladder cancer metastasizing to the prostate without involving the prostatic urethra is uncommon and requires precise diagnostic techniques for accurate tumor classification. Early management is advised to enhance the prognosis for the patient.

Bilateral hearing impairment as an early symptom in a patient with Charcot-Marie-Tooth Type 1: the first case report from Syria.

Introduction: Charcot-Marie-Tooth (CMT) is a group of inherited neuromuscular disorders that vary clinically and genetically. It is characterized by peripheral nerve damage, leading to muscle weakness and sensory loss. Case presentation: A 13-year-old male presented to the rheumatology department with bilateral hearing impairment since the age of 3 years, pes cavus, and difficulties walking. Some family members had Achilles tendon lengthening surgery. During physical examination, the patient had a shortened Achilles tendon, there are high arches in the feet, curled toes, loss of touch sensation in the feet, ankles, and legs, atrophy in the foot muscles. An eye examination revealed a discrepancy that needed glasses. Neurological findings included horizontal and vertical nystagmus, proprioception disorder, and demyelinating sensorimotor disorder diagnosed as CMT type 1. The audiogram showed bilateral sensorineural hearing impairment. MRI revealed spinal disc bulges. The treatment plan includes Achilles tendon lengthening surgery and physical therapy. Clinical discussion: CMT patients need to receive supportive treatment including physical therapy, hearing aids, and glasses, to help improve their quality of life. Conclusion: CMT disease is a genetic disorder that causes difficulties in movement, coordination, and daily activities due to muscle weakness and sensory impairments. In a few cases, patients have been documented to have bilateral hearing impairment as their first symptoms. It affects individuals in Syria and around the world, and requires proper diagnosis and treatment.

Brucella spondylodiscitis that affected both cervical and lumbar spines: a rare case report from Syria.

Introduction and importance: Brucellosis, the most common microbial zoonotic disease in the world, is endemic in both industrialized and underdeveloped countries. Between 2 and 53% of patients with brucellosis, patients develop spondylitis, and people between the ages of 50 and 60 are the most commonly affected. It mostly affects the lumbar vertebrae (L4 and L5 in particular) and the thoracic vertebrae. Case presentation: A 52-year-old patient was brought to the neurological clinic after complaining of lower back discomfort, reduced mobility, and lower extremity weakness for 6 weeks. Both the cervical and lumbar columns were the sites of the specific discomfort. MRI showed cervical and lumbar discitis. Clinical discussion: A high titre of anti-brucella antibodies was found by serology testing. He was treated with oral doxycycline (100 mg, two times daily), rifampicin (900 mg) orally once daily, and gentamicin (400 mg) once daily. The patient had massive improvement after 3 months of treatment. Conclusions: This case should serve as a reminder to healthcare providers to keep a high index of suspicion for uncommon infections, including Brucella species, in patients exhibiting discitis symptoms, especially when traditional microbiological gram stain and culture are negative.

A 30-year-old female with dermatomyositis without high elevation of muscle enzymes: a rare case report from Syria.

Introduction and importance: Dermatomyositis (DM), sometimes referred to as inflammatory and degenerative changes in the skin and muscles, is a rare autoimmune disorder. DM is distinguished by myopathic disease, symmetrical proximal muscle weakness, and increased creatine kinase (CK). Case presentation: A 30-year-old-female presented to the department of dermatology with a history of chronic right hand pain spreading to the shoulder, severe tachycardia, and dyspenia that increased during routine tasks like using the bathroom. What makes this case unique is that the CPK developed without doubling, and the final concentration was 207 ng/ml. Other common clinical symptoms include amyopathic/hypomyopathic muscle involvement and DM-specific rash (Gottron's papules, heliotrope rash), and these manifestations were in our patients. Sun protection, topical treatment with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized for all individuals with nonvasculopathic disease. In our case, the patient stopped using azathioprine and began taking methotrexate. Clinical discussion: Sun protection, topical therapy with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized in layers for all individuals with nonvasculopathic illnesses. Mycophenolat Mofetil is beneficial in treating refractory illnesses as well as individuals with interstitial lung disease or substantial skin disease. Conclusion: Even if test findings are not conclusive, dermatomyositis should always be considered when muscular weakness manifests. It's important to distinguish the disorder from connective tissue diseases like lupus erythematosus. In fact, to correctly diagnose DM, if there are any doubts, a muscle biopsy is required.

Septal atrial thrombosis as a primary presentation of antiphospholipid syndrome in a patient with ANA-negative systemic lupus erythematosus: a case report.

Introduction and importance: Systemic lupus erythematosus (SLE) predominantly affects young women and is associated with an increased risk of thrombosis. Antiphospholipid antibody syndrome (APS) may complicate the clinical picture, often leading to recurrent arteriovenous thrombosis. This case report underscores the significance of two unique aspects: the rare occurrence of an atrial thrombus and the presence of antinuclear antibody (ANA)-negative SLE. Case presentation: A 32-year-old woman presented with a history of symmetric polyarticular joint pain, oral ulcers, significant weight loss, and a history of unprovoked popliteal thrombosis and two unexplained abortions. One week prior to admission, she experienced severe headaches and elevated blood pressure. Clinical evaluation revealed several abnormalities, including a systolic murmur, livedo reticularis, and a transthoracic echocardiogram showing severe mitral regurgitation and an atrial thrombus. A transesophageal echocardiogram confirmed the presence of a pedunculated lesion in the right atria, challenging differential diagnosis. Clinical discussion: ANA-negative SLE, though rare, was observed in this patient, highlighting diagnostic complexities. APS compounded the clinical presentation, emphasizing the importance of identifying specific autoantibodies and recurrent thrombotic events. In the case of atrial thrombus, differentiation from other cardiac conditions, such as myxoma or vegetation, is a key. Conclusions: This case underscores the critical importance of recognizing and managing atrial thrombus, a rare but life-threatening complication in patients with systemic lupus erythematosus and antiphospholipid syndrome. Additionally, the diagnostic challenge of ANA-negative SLE warrants careful consideration in patients presenting with characteristic features of the disease.

Is there any association between celiac disease, myelodysplastic symdrome and primary sclerosing cholangitis?: A rare case report.

Celiac disease (CD) is an autoimmune disease characterized by a specific serological and histological profile. Hematological findings are one of the most common presentations and can sometimes be the only manifestation of the disease. In patients with unexplained isolated hematological abnormalities, a high index of suspicion for CD is necessary. A 33-year-old woman was admitted to the Department of Gastroenterology and Hepatology because of abdominal pain and fatigue. She was diagnosed with myelodysplastic syndrome. After many investigations, it is explained that she has CD. It is important to consider myelodysplastic syndrome as a hematological manifestation of CD. All patients with myelodysplasia should be investigated for CD and related conditions such as primary sclerosing cholangitis.

A 23-year-old patient with bilateral hypoplastic thumbs and toes: A case report.

Key Clinical Message: However, it is noteworthy that certain patients with minor functional limitations in their hand may have experienced undiagnosed thumb hypoplasia during their childhood years. These individuals may have successfully adapted to their condition without seeking medical intervention and may express a preference for nonintervention (as in this case). Abstract: Thumb hypoplasia is a congenital underdevelopment of the thumb, accounting for 5%-15% of congenital hand disorders. It occurs equally among both genders and can affect both thumbs. The condition is categorized using Blauth's classification with Type I being the mildest form. We report a 23-year-old Syrian male presented with a bilateral restriction in opposition movement when using a pen or razor. Clinical examination and x-ray imaging revealed a bilateral Type I hypoplastic thumb with bilateral minimal hypoplasia of the toes. Despite the surgical treatment options available, the patient opted not to undergo surgery due to his adaptation to his condition. Hypoplastic thumb Type I is a congenital condition characterized by underdevelopment of the thumb. Bilateral thumb hypoplasia with toes hypoplasia is extremely rare. A full systemic evaluation should be done due to its associations with other syndromic manifestations and treatment options are discussed concerning the best functional outcomes and patient preferences.

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria.

BACKGROUND: The nucleoside transport capabilities of the human equilibrative nucleoside transporter-3 (hENT3) are disrupted by mutations in SLC29A3 (10q22.2), which are genes for the nucleoside transporter and are the cause of the unusual autosomal recessive disease known as H syndrome. As a result, histiocytic cells invade a number of organs. CASE PRESENTATION: A 17-year-old Syrian male was admitted to the internal medicine department with a one-month history of polyuria, polydipsia, general weakness, and pallor. He had a history of progressive bilateral sensorineural hearing loss and failure to gain weight for three years. Physical examination revealed various abnormalities, including scrotal mass, small penis and testicles, absence of pubic and axillary hair, joint abnormalities, short stature, hallux valgus, fibrous protrusion near the navel, and hyperpigmented non-itchy painful skin plaques. Clinical signs along with laboratory test results confirmed hyperglycemia, primary hypogonadism, osteopenia, and growth hormone deficiency. After a review of the relevant medical literature, this patient's presentation of hyperglycemia with hypogonadism, hyperpigmentation, hallux valgus, hearing loss, hematological abnormalities, and short stature suggested the diagnosis of H syndrome. The patient received treatment with insulin and testosterone, leading to a significant improvement in his presenting symptoms. CONCLUSIONS: H syndrome is a very rare condition, and the fact that the first case has only recently been reported in Syria serves to emphasize how rare it is. H Syndrome should be suspected if a patient has short stature with signs of hyperglycemia and other endocrine and cutaneous abnormalities. We are reporting this case to increase physicians' awareness of this exceedingly rare and unique syndrome.

Idiopathic granulomatous mastitis with extramammary manifestations: a case report.

Introduction and Importance: Granulomatous mastitis is a rare inflammatory disorder of the breast, which can be either idiopathic or due to secondary etiology. This disease affects women of reproductive age. The exact pathophysiology underlying idiopathic granulomatous mastitis (IGM) remains unclear, but it is believed to be mediated by immunological processes. Establishing a diagnosis of this condition could be challenging due to the long list of differential diagnoses that it creates. Case Presentation: We report a 24-year-old Syrian female presented to the clinic complaining of a 2-week history of fatigue, fever and chills, swelling, and localized pain in her left breast. Physical examination revealed erythema nodosum, episcleritis, and arthralgia in the wrists, ankles, and elbows. An excisional biopsy was done and a microscopic examination of the lesion confirmed granulomatous perilobular mastitis. Symptoms had resolved after the surgical excision and follow-up evaluation showed no signs of recurrence. Clinical Discussion: IGM typically presents as an enlarging breast mass that can be mistaken for breast cancer or an abscess. The diagnostic approach should consider the presence of extramammary symptoms such as fever, arthralgia, and fatigue. Treatment options include corticosteroids, surgical excision, or steroid-sparing agents, but relapse rates vary. Conclusions: Episcleritis should be considered as a potential extramammary manifestation in cases of IGM. We highlight the importance of recognizing and investigating the potential systemic involvement in patients with IGM. Accurate interpretation of pathological and radiological findings by a multidisciplinary breast team can facilitate the diagnosis and reduce unnecessary interventions.

Uremic encephalopathy manifesting with a unique MRI finding (the lentiform fork sign) in an adult male: A case report.

A novel radiologic sign in patients with renal failure and uremic encephalopathy (UE) with metabolic acidosis has recently been identified as the lentiform fork sign. On magnetic resonance imaging (MRI), the "lentiform fork sign" has been described as bilateral symmetrical hyperintensities in the basal ganglia encircled by a hyperintese rim delineating the lentiform nucleus. Changes in uremic solute retention, aberrant blood-brain barrier transport, disordered vascular reactivity, altered electrolyte and acid-base balance, and altered hormone metabolism are the most likely causes of the condition. A 56-year-old male with end-stage renal disease was brought to the emergency room for a progressive change in mental status and involuntary arm movements over the previous 5 days, which were accompanied by mild dyspnea. A brain MRI was performed, and it revealed hyperintensity on T2/FLAIR in the white matter surrounding the basal ganglia. the patient was treated with dialysis and improved greatly. Intensified hemodialysis and glycemic control are the cornerstones of treating diabetic uremic syndrome (DUS) with likely reversible clinical symptoms and remission of imaging abnormalities.

Recovery fulminant hepatitis A in systemic juvenile idiopathic arthritis patient treated with tocilizumab: a case report.

Introduction: Systemic juvenile idiopathic arthritis (sJIA) is a rare systemic immune disorder that affects patients before 16 years of age. Several viruses have been reported to trigger this disease. Increased use of biologics, such as tocilizumab and anakinra, and decreased use of glucocorticoid may lead to improved outcomes in patients with sJIA. Serious liver injuries induced by tocilizumab include acute liver failure, hepatitis, and jaundice.Hepatitis A remains a highly prevalent disease in low-income countries. Case presentation: A 14-year-old Syrian child was diagnosed with sJIA and treated with different DMARDs, including MTX. Tocilizumab was then added as monotherapy and stopped after 12 doses after full diseases remission and normal laboratory tests. He presented with a very high alanine transferase, aspartate transferase, a spiked fever, and fatigue. He was infected with hepatitis A. Discussion: Liver abnormalities are uncommon in sJIA. Acute liver failure may develop a few months after the onset of sJIA.Although acute infections with the hepatitis A virus in children are self-limited, 0.1% of patients progress to fulminant hepatic failure, which spontaneously recovers in 40% of cases. No data are available concerning the coexistence of hepatitis A and sJIA. Our case was the first case presenting fulminant Hepatitis A in a sJIA patient treated with tocilizumab, which had recovered, and the authors initiated Anakinra as a treatment. Conclusion: Further follow-up and cohort studies are needed to find the exact prevalence and coexistence of Fulminant Hepatitis A in the coarse of sJIA treated with tocilizumab.

Rapidly Progressive Felty Syndrome After Sudden Discontinuation of Methotrexate: A Case Report and Review of Literature.

Felty syndrome (FS) is a disorder that develops after a long history of erosive rheumatoid arthritis and presents with splenomegaly and neutropenia. In addition to joint deformities, FS causes a variety of extra-articular manifestations such as vasculitis, skin lesions, and lymphadenopathy. FS is also reported to cause non-cirrhotic portal hypertension which may result in variceal bleeding. FS is usually treated by disease-modifying anti-rheumatic drugs (DMARDs) such as methotrexate. Herein, we report a case of rapidly deteriorating FS and a severe relapsing neutropenia only a few weeks after discontinuation of methotrexate and other available DMARDs. The patient presented with a fever and a multi-drug resistant gangrenous ulcer consistent with ecthyma gangrenosum. The patient was also found to have hepatosplenomegaly and portal hypertension. The case was managed with antibiotics and symptomatic treatments only as DMARDs were either unavailable or not affordable by the patient. However, the patient's condition did not improve. This case highlights that DMARDs are considered an essential part of preventing infections due to FS neutropenia. Patients with FS should continue DMARDs for life to avoid the relapse of their condition.