European Journal of Medical Case Reports

Background: Guillain-Barre syndrome (GBS) is an acute, immune-mediated post-infectious polyradiculoneuropathy usually presenting with symmetrical ascending weakness, diminished deep tendon reflexes, and nonspecific sensory symptoms. GBS is, in essence, an autoimmune disorder, and the underlying mechanism is thought to result from so-called molecular mimicry. This hypothesis is further supported by approximately two-thirds of the patients having a preceding infection. In most cases, the infectious trigger occurs in the gastrointestinal or respiratory tract, with the disease manifesting within 4 weeks. Even though it most commonly affects children aged 1-5 years, there are rare cases reported in neonates and infants.
Case Presentation: We report a case of a 6-month-old infant with GBS following a respiratory infection. The diagnosis was confirmed through cerebrospinal fluid (CSF) analysis, electromyoneurography, spine MRI, and clinical assessment. Positive human herpes virus 6 (HHV-6) in CSF suggested a potential infectious trigger. The infant was treated with intravenous immunoglobulin and ganciclovir, requiring intensive care and mechanical ventilation. Recovery involved gradual neurological improvement and restored motor function over 30 days.
Conclusion: GBS is a rare disorder in children, especially when associated with HHV-6 infection. It requires multidisciplinary management to prevent complications and improve the prognosis of patients. Upon arrival at the emergency department, all patients should be carefully evaluated, looking for autonomic and respiratory dysfunction signs. Generally, pediatric patients have a better prognosis compared to adults. Initiation of treatment in the early stages of the disease leads to a faster recovery and, consequently, fewer sequelae.

Background: Germline mutations in the TP53 gene are primarily associated with Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder. While the predominant manifestations are various malignancies, there is limited information regarding non-malignant clinical features, particularly affecting the skin and musculoskeletal systems, in TP53 mutation carriers. We report a rare case of LFS presenting with immune thrombocytopenia (ITP) and changes of early aging and discuss the possible underlying pathophysiological mechanisms for these.
Case presentation: A 16-year-old female presented with complaints of spontaneous ecchymotic patches over both upper limbs, lower limbs, and chest along with menorrhagia. Comprehensive evaluation with bone marrow examination confirmed diagnosis of ITP which was treated with steroids, intravenous immunoglobulin, and thrombopoietin receptor agonists, and the patient responded completely with normalization of platelet count. Given the positive family history of thrombocytopenia in the sister and early malignancy in the maternal family, a whole exome sequencing was done which showed a heterozygous pathogenic variant in the TP53 gene confirming the background of LFS.
Conclusion: A case of LFS with a positive family history presenting as primary ITP successfully managed with ITP-like treatment is a rare immunological complication and has not been reported in the literature to date.

Background: Pulmonary sequestration (PS) is a dysfunctional, congenital malformation with no apparent connection to the tracheobronchial tree, fed by an aberrant arterial connection from the systemic circulation. PS is a rare congenital malformation. The fact that very few cases in the literature are supplied by three aberrant arterial branches originating from the aorta makes our case even rarer.
Case Presentation: In our case, we will focus on a 24-year-old male patient who presented with complaints of cough and dyspnea, was investigated due to pneumonia-like symptoms resistant to antibiotic therapy and was diagnosed with intralobar PS (ILS). We performed left lower lobectomy on our patient with a hybrid approach combining video-assisted thoracoscopic surgery (VATS) and thoracotomy and achieved successful results.
Conclusion: ILS cases can be diagnosed late because they show pneumonic symptoms such as cough, chest pain, and dyspnea. PS should be considered in the differential diagnosis of recurrent pneumonia-like infections. The diagnosis should be confirmed by revealing aberrant arterial structures with imaging methods. In the patient’s treatment decision, the surgical method should be carefully selected according to the patient’s current condition. The hybrid approach allowed us to combine the advantages of commonly used VATS and thoracotomy while minimizing the disadvantages. This rare case, managed through an innovative surgical approach, has not only improved our clinical experience but also contributed meaningfully to the existing literature.

Background: Retrorectal cystic hamartoma, also known as a tailgut cyst, is a rare type of space-occupying lesion. It is a cystic hamartoma that predominantly forms in the retrorectal region and may serve as a potential etiology for anal neoplasia.
Case Presentation: A 58-year-old female patient was initially treated for a high-grade squamous intraepithelial lesion of the anal canal, which was surgically removed on May 20, 2023, followed by radiotherapy. She also had a known tailgut cyst with a fistula connecting it to the perianal skin at the 6 o’clock position in the lithotomy view. The cyst had been asymptomatic until then. As a prophylactic measure to prevent potential malignant transformation, the decision was made to excise the tailgut cyst. The operation was performed laparoscopically and included perianal mobilization of the fistula. During follow-up, the patient developed perianal pain. A computed tomography scan revealed a fluid collection at the site of the excised tailgut cyst. The collection was surgically drained and identified as a seroma without any signs of infection. The patient was discharged after 7 days and experienced no further long-term complications.
Conclusion: Retrorectal cystic hamartomas are rare and often asymptomatic. When symptomatic, they may present with lower abdominal pain, back pain, obstipation, urinary retention, or complications such as anal abscesses and fistulas. Research to date remains inconclusive regarding the incidence of malignant transformation.

Background: Birt-Hogg-Dubé syndrome (BHDS) is a very rare autosomal dominant inherited disease caused by mutations in the folliculin gene, characterized by a triad of clinical manifestations involving the skin, lungs, and kidneys.
Cases Presentation: We present a case series of four cases of BHDS with diverse phenotypic spectrum. Case 1 is a 48-year-old female who presented with right-sided hydropneumothorax and a typical triad of BHDS-cystic lung disease, fibrofolliculoma, and renal mass. Case 2 is a 31-year-old young male who presented with left-sided pneumothorax and cystic lung disease with no other systemic involvement. Case 3 is a 43-year-old female who presented with recurrent left-sided pneumothorax and cystic lung disease with no other systemic clinical manifestations. This particular case had a family history of pneumothorax. Case 4 is a 69-year-old female who presented with a chronic cough and right middle lobe pneumonia. She had typical nodular and papular skin lesions over the forehead and computed tomography-thorax showing bilateral cysts of varying size.
Conclusion: This case series highlights the diverse clinical spectrum of BHDS, emphasizing the importance of early recognition of this condition in patients with recurrent pneumothorax, genetic confirmation of the disease, and multidisciplinary management, including nephrology and pulmonology inputs to prevent complications such as recurrent pneumothorax and renal malignancies. Further research on genotype-phenotype correlation in BHDS is needed to optimize the diagnosis and treatment.