A 28-year-old patient with tuberous sclerosis associated with renal angiomyolipoma:A rare case report and literature review.

Tuberous sclerosis complex (TSC) is a genetically inherited disorder distinguished by the development of numerous benign neoplasms across multiple organ systems. Renal angiomyolipoma represents 0.3% of all primary renal tumors and are classified as benign mixed mesenchymal neoplasms. In this report, we reported the clinical presentation of a 28-year-old individual who was received by the department of urology. The patient was admitted presenting with asymptomatic, macroscopic hematuria that had been ongoing for a period of 10 days. Subsequent diagnostic evaluations revealed an association between the presenting urinary condition and tuberous sclerosis complex with a concurrent renal angiomyolipom.

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.

Small bowel obstruction in a 29-year-old male with congenital peritoneal bands: A rare case report from Syria.

This case highlights the significance of maintaining clinical suspicion for CPBs in adults presenting with SBO. Early surgical intervention, offering both diagnosis and treatment, is essential for managing this rare cause of SBO. Increased clinical awareness of CPBs will help ensure they are considered in the differential diagnosis of adult patients with bowel obstruction.

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.

A 4-month-old male with Raghib syndrome: a rare case report from Syria.

Introduction and importance: Raghib syndrome is a rare congenital complication consisting of the termination of the left superior vena cava (LSVC) in the left atrium, an unroofed coronary sinus, and an atrial septal defect most often found in the posterior-inferior angle of the atrial septum. Both a right-to-left and a left-to-right intracardiac shunt exist. In most circumstances, they do not show any symptoms. Presentation of case: The patient presented with a persistent left superior vena cava draining into the left atrium, an unroofed coronary sinus, and a secondary atrial septal defect (ASD). Transthoracic echocardiography was used to diagnose the condition, and surgery was applied as the primary treatment. Clinical discussion: It was formerly believed that this complex was exclusive to Raghib syndrome; however, cases have been found in which the interatrial connection is the aperture of the unroofed coronary sinus in patients with a normal atrial septum. Conclusion: Extracardiac treatment for this illness reduces the load on the left atrial suture and may stop further arrhythmias. There is no possibility of pulmonary vein flow restriction when there are no atrial tunnels.

A 15-year-old male with Peutz-Jeghers syndrome: a rare case report from Syria.

Introduction and importance: In addition to extra gastrointestinal hamartomatous polyps, Peutz-Jeghers syndrome (PJS), a rare but well-known hereditary disorder, generates mucocutaneous lesions that resemble certain coloured freckles and gastrointestinal symptoms. Intussusception or polyps blocking the gastrointestinal lumen are examples of PJS consequences. Additionally, the polyps may cause ongoing bleeding that causes anaemia. Case presentation: A 15-year-old male patient with generalized stomach discomfort, frequent vomiting, and decreased appetite reported to the hospital's ambulance department. A month and a half prior, the patient underwent a surgical laparotomy for intussusception. The clinical examination revealed many pigmentations near the mouth. The specialists decided to do an urgent laparotomy on the patient, during which a 60 mm necrotic intestinal intussusception was observed. The patient had an ileoileostomy and an amputation, and a pathology test discovered numerous benign hamartomatous polyps in the sample."Putz-Jeghers Syndrome" had been determined to be the ultimate diagnosis. Clinical discussion: It is autosomal dominant and more prevalent in children and teenagers. According to some research, 30% of diseases are passed from parents to children while 70% may result from gene mutations. Conclusion: There is no evidence that the transformation of hamartomatous polyps led to the neoplastic tumours in these patients. It is suggested to carry out a complete screening program and detect PJS early in order to prevent gastrointestinal problems and dangerous malignancies.

A 4-month-old male baby with an orf lesion on his nose: a rare case report.

Background: Ecthyma contagiosum, sometimes referred to as human orf, is a zoonotic disease caused by the orf virus that is mostly acquired by coming into contact with diseased animals such as sheep or goats. The orf virus, a DNA virus belonging to the Poxviridae family, infects epidermal keratinocytes via breaking down the skin barrier, which can be caused by burns or wounds. The accompanying characteristic skin lesions can take on a range of morphologies depending on the infection's stage; lesions that are crusted, papillomatous, maculopapular, targetoid, and nodular can occur before clearing up. In addition to the lips and corners of the mouth, infected animals may also have lesions on the neck, vulva, and teeth. Skin sores caused by Ecthyma contagiousum discharge the orf virus into the environment. Case presentation: A 4-month-old male infant with no medical history brought himself to the dermatology clinic with a minor fever and a skin lesion on his nose. An orf virus infection was discovered in the newborn through blood culture and PCR testing. For a subsequent infection, the patient received fusidic acid cream, an antibiotic, and an antipyretic. Following a follow-up of 3 months, the lesion vanished entirely. Conclusion: Rarely, as in our instance, are orf nodules seen somewhere else than the hands. In order to appropriately treat a patient without fear, clinicians should keep this in mind, especially if they come up with a history similar to that of our patient.

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.

Lower urinary tract symptoms caused by scabies mites (sarcoptes scabiei): A case report.

Lower urinary tract symptoms (LUTS) are including an overactive bladder, voiding and storing urine. The causes of LUTS include infectious and inflammatory. In this paper we present a rare case of LUTS caused by scabies mites and could be the third case reported in the medical literature. A 12-year-old child came to hospital complaining of tenesmus, dysuria and hematuria several days ago. A diagnosis of LUTS was established and investigations showed the scabie mite is the possible cause for the disease. Scabies mites have the ability of entering into the urinary tract leading to LUTS in patients affected with scabies.