Cohen Syndrome With Complex Medical Complications: A Case Report.

Cohen syndrome (CS) is a rare autosomal recessive disorder marked by developmental delays, distinct facial features, and a variety of systemic manifestations. We present a case of a 28-year-old male previously misdiagnosed with Prader-Willi syndrome who exhibited recurrent generalized weakness, fever, fatigue, and significant hemoglobin drops requiring multiple blood transfusions due to thalassemia major. The patient displayed characteristic CS features, including developmental delays, distinct facial characteristics, morbid obesity, and heterochromia iridis. Severe gastrointestinal bleeding led to a diagnosis of ulcerative colitis (UC) via colonoscopy. Management included blood transfusions, hydrocortisone, mesalamine, and azathioprine, resulting in stabilized UC and improved overall health. CS presents with a spectrum of clinical features that overlap with other syndromic conditions, necessitating careful differential diagnosis. Early diagnosis and supportive care significantly improve quality of life and help manage complications effectively.

A rare case of gastric schwannoma mimicking GIST: diagnostic and therapeutic approach.

Gastric schwannomas are rare, benign neurogenic tumors originating from Schwann cells within the gastrointestinal tract, comprising only 0.2% of all gastric tumors. This report presents the case of a 32-year-old female patient who experienced severe periumbilical pain, nausea, and vomiting, ultimately diagnosed with gastric schwannoma. Initial imaging and endoscopic evaluations suggested a gastrointestinal stromal tumor (GIST), but postoperative histopathological analysis confirmed schwannoma, showing S-100 positivity and negativity for CD117, DOG-1, SMA, Desmin, and CD34. The patient underwent successful central gastrectomy with negative surgical margins and no metastasis. Despite a postoperative complication of small bowel obstruction, which was managed conservatively, the patient remained symptom-free with no recurrence over the follow-up period. This case underscores the importance of differential diagnosis, distinguishing schwannomas from GISTs and other submucosal lesions through thorough histopathological and immunohistochemical analyses, and highlights the efficacy of complete surgical resection in preventing recurrence.

A Persistent Pulmonary Puzzle: Diagnosing Hodgkin Lymphoma in a Young Female With Chronic Respiratory Symptoms.

Hodgkin lymphoma (HL), a lymphoid neoplasm characterized by the presence of Reed-Sternberg cells, often presents with painless lymphadenopathy and systemic symptoms. This case report details the diagnostic journey of a 27-year-old non-smoker female with chronic respiratory symptoms, including persistent cough, hemoptysis, and weight loss over two years. Despite multiple treatments for presumed infections and extensive diagnostic procedures, the correct diagnosis of HL was delayed due to atypical pulmonary manifestations, notably necrotizing pneumonia and multiple cavitary lung lesions. Ultimately, histopathology from a third bronchoscopy confirmed HL, highlighting the complexity of diagnosing HL with unusual presentations. Patients with cavitary lesions have a poor prognosis compared to others with typical pulmonary involvement, as cavitation in HL is likely caused by central ischemia necrosis due to the tumor's rapid growth. This case can be considered a primary pulmonary HL, a rare and hard-to-treat presentation since it does not respond well to radiotherapy. It emphasizes the challenge in diagnosing HL when it presents atypically, making it crucial to consider HL in differential diagnoses to avoid delayed diagnosis and improve patient outcomes.

Concurrent Cardiac and Renal Anomalies in Waardenburg Syndrome Type 1: A Report of a Rare Case.

Waardenburg syndrome (WS) is an autosomal dominant genetic disorder characterized by the absence of melanocytes, leading to distinctive pigmentary abnormalities and sensorineural hearing loss. This case report describes extremely rare concurrent anomalies in a preterm male infant diagnosed with WS type 1. The newborn, delivered prematurely at 35 weeks due to maternal complications, presented with multiple congenital anomalies and required immediate resuscitation. He exhibited hallmark features of WS, including a white forelock, dystopia canthorum, and bilateral sensorineural hearing loss. Genetic testing confirmed a PAX3 gene mutation. The infant experienced significant respiratory and feeding challenges, necessitating intensive care. Management included mechanical ventilation, surfactant therapy, phototherapy for hyperbilirubinemia, and broad-spectrum antibiotics for suspected sepsis. The cardiac assessment revealed multiple anomalies, such as a patent foramen ovale and left ventricular hypertrophy, while renal ultrasound identified multicystic dysplastic kidney and bilateral hydronephrosis. Multidisciplinary care facilitated the infant's stabilization, transition to oral feeding, and ongoing specialized care. WS type 1 is associated with mutations in the PAX3 gene and presents with diverse clinical manifestations. Although renal and cardiac anomalies are uncommon in WS, their presence in this case underscores the complexity of the syndrome. Early intervention for hearing impairment and genetic counseling are critical for optimal outcomes. This report highlights the importance of a comprehensive and interdisciplinary approach to managing infants with WS, addressing both typical and atypical manifestations. It is worth noting that effective management of WS in neonates requires prompt identification and treatment of associated complications.

Focal necrosis of the falciform ligament as a rare cause of abdominal pain: A case report.

The falciform ligament, a peritoneal fold that anatomically separates the right and left lobes of the liver, may infrequently be a cause of patients' complaints. In very rare instances, fatty appendages of the falciform ligament may undergo torsion, resulting in fat infarction. Despite its rarity, falciform ligament pathologies often mimic common abdominal issues, leading to misdiagnosis. Herein, we report a case of inflammation and necrosis of the falciform ligament in a 72-year-old female. The patient presented with abdominal pain, a positive Murphy's sign, and elevated inflammatory markers. Imaging, including a computed tomography (CT) scan, was pivotal in confirming the diagnosis of falciform ligament necrosis. Contrary to the proposed surgical approach (resection of the falciform ligament) in some reported cases, conservative management (including analgesia, hydration, and antibiotics) proved successful in this case. This report emphasizes the importance of considering falciform ligament torsion in upper abdominal pain differential diagnoses and highlights the key role of imaging for accurate diagnosis.

A Case Report on Tricho-Hepato-Enteric Syndrome: The SKIC3 Gene in Focus.

Tricho-hepato-enteric syndrome (THES), also known as syndromic diarrhea, is a rare genetic disorder that causes intractable diarrhea, hair anomalies, facial dysmorphism, and liver abnormalities. Herein, we report the case of an eight-month-old male who was referred to our hospital due to symptoms of diarrhea, vomiting, and insufficient weight gain. The child was born via cesarean section following an uncomplicated pregnancy, with no history of admission to the neonatal intensive care unit (NICU). Since birth, the patient has been experiencing diarrhea and inadequate weight gain, necessitating multiple hospital admissions. Upon evaluation, genetic testing confirmed the diagnosis of THES. The management strategy included a variety of nutritional interventions and supportive care measures. Currently, the patient is in the pediatric intensive care unit (PICU), receiving total parenteral nutrition (TPN) and continuous supportive care. This case underscores the complexity of diagnosing and managing THES, highlighting the need for comprehensive care and close monitoring of the patient's condition.