"An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome".

INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4 million live births. The syndrome is distinguished by a series of characteristic clinical features. CASE PRESENTATION: We present a case of a twenty-month-old male with DS who experienced a range of dysmorphic and clinical features with the involvement of multiple systems. These features include skin hyperpigmentation, hypertrichosis, distinct facial features, abdominal distension, and microcephaly, with the involvement of the endocrine, renal, respiratory, and cardiac systems. CONCLUSION: The primary features of DS involve severe insulin resistance and growth abnormalities, the association with pulmonary hypertension (PHTN) has not been reported before. This finding adds more complexity to the condition. To the best of the author's knowledge, this is the first report for a patient with DS who has PHTN. Further investigation is required since the mechanisms behind the development of PHTN in DS are not entirely understood. Shedding light on this association will contribute to better management strategies and outcomes for affected patients.

Congenital diaphragmatic hernia in patient with 1p36 deletion.

Key Clinical Message: This case underscores the atypical presentation of late-onset congenital diaphragmatic hernia in a 9-old with 1p36 deletion syndrome. Recognition of respiratory distress and abdominal symptoms is crucial for intervention. Abstract: Congenital Diaphragmatic Hernia (CDH) is a condition characterized by the protrusion of abdominal contents into the thoracic cavity due to a defect in the diaphragm. While typically observed in the neonatal period, CDH can present in later life. This case report describes the presentation, diagnosis, and management of a nine-year-old boy with 1p36 deletion syndrome who presented with respiratory distress, abdominal pain, vomiting, and anorexia. The initial diagnosis was tension pneumothorax, and thus the patient underwent chest tube placement. However, a high-resolution CT scan revealed a left hemidiaphragmatic hernia, and the patient eventually underwent an emergency laparotomy due to acute-onset respiratory distress. Intraoperatively, a diagnosis of Bochdalek hernia with gastric perforation was made, and the CDH and gastric perforations were resolved successfully. This case highlights the importance of considering late-presenting CDH as a possible diagnosis in pediatric patients with similar symptoms and the radiological findings suggestive of tension pneumothorax. Early recognition and prompt surgical intervention can lead to successful management of such cases.

Unusual cause of inflammatory backache: SAPHO syndrome.

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) is a rare chronic inflammatory disease that develops in adults. We present a case of SAPHO syndrome in a 37-year-old male presenting with gradually worsening back and neck pain for a 7-year period. The episodes were preceded by a history of pustular skin eruptions, which first appeared on the upper trunk and then involved his face and were pustular and scarring. The purpose of presenting this case report from Iraq is to raise awareness about this rare condition, which is frequently misdiagnosed and under-recognized.

Dandy-Walker syndrome associated with a giant occipital meningocele: A case report and a literature review.

Background: Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects; however, association with a giant occipital meningocele is extremely rare, as only around 34 cases have been described. Case description: We report a case of a 2-month-old female infant who presented with a midline, gigantic mass in the back of the head. It was first discovered on a prenatal ultrasound. The mass measured about 15 × 5 cm, extending to the midback, not changing in size with crying, not attached to the back, and with a positive transillumination test. The diagnosis was confirmed after doing a brain computed tomography, which revealed hypoplasia of the vermis with an enlarged posterior fossa as well as cystic dilation of both ventricles with herniation through a bone defect. Conclusion: Our case highlights a rare association between giant occipital meningocele and Dandy-Walker syndrome that is rarely discussed or reported in the medical literature. By reporting this extremely rare case of Dandy-Walker syndrome associated with a giant occipital meningocele, we hope to contribute to the creation of a database for future research so that a management protocol can be established for use by clinicians and neurosurgeons for better management of the condition.

Azathioprine-induced lymphoma in a patient with Takayasu arteritis: A case report from Iraq.

Key Clinical Message: Azathioprine, used for vasculitis and connective tissue diseases, carries long-term cancer risks. This case report raises awareness among healthcare providers about such risks and emphasizes the need for taking necessary precautions to avoid them while treating such diseases. Abstract: We present an Azathioprine-induced lymphoma case in a 51-year-old male patient with Takayasu arteritis who presented with painless cervical swelling, itching, weight loss, and decreased appetite. This case report aims to increase awareness of the potential long-term cancer risks associated with azathioprine use in the treatment of chronic diseases.

A novel overlap syndrome: Rheumatoid arthritis, Sjogren's syndrome, antiphospholipid syndrome, and dermatomyositis.

Key Clinical Message: This is an extremely rare case that has not been presented or discussed in the literature to the best of our knowledge. The overlap of connective tissue disease is a challenge for physicians and patients, and it needs special care and regular clinical and laboratory follow-up. Abstract: This report describes a rare case of overlapping connective tissue diseases in a 42-year-old female with rheumatoid arthritis, Sjogren's syndrome, antiphospholipid syndrome, and dermatomyositis. The patient presented with a hyperpigmented erythematous rash, muscle weakness, and pain, highlighting the challenges of diagnosis and treatment that require regular clinical and laboratory follow-up.

Pancreatic insulinoma misdiagnosed as atrial fibrillation: A case report from Iraq.

RATIONALE: Pancreatic insulinomas are the most frequent pancreatic endocrine neoplasms. They are insulin-secreting pancreatic tumors that induce extreme, recurrent, and near-fatal hypoglycemia. Insulinomas affect 1 to 4 individuals in a million of the general population and account for about 1% to 2% of all pancreatic tumors. PATIENT CONCERNS: Recurrent episodes of sweating, tremor, weakness, confusion, palpitation, blurred vision, and fainting for 2 months and was misdiagnosed as having atrial fibrillation. DIAGNOSIS: He was misdiagnosed as having atrial fibrillation to highlight the importance of atrial fibrillation as unusual mimicker of insulinoma and to encourage clinicians about the importance of early and appropriate management in such cases. INTERVENTIONS: Endoscopic ultrasound for the pancreatic parenchyma was done, and it showed a hypoechoic homogenous mass located at the pancreatic head measuring 12 mm × 15 mm with no local vascular involvement, blue in elastography, hypervascular with Doppler study, and a normal pancreatic duct diameter. OUTCOMES: His condition was stable, and he was discharged home 2 days later. CONCLUSION: The diagnosis of insulinoma is usually difficult and late due to the extremely low incidence of the disease and the similarity of its clinical presentation to numerous other conditions, the most reported is epilepsy.

Unusual presentation of rheumatoid arthritis in a 106-year-old woman: A rare case report.

By reporting this case, we hope to encourage medical professionals to concentrate on diagnosing old patients with unusual presentation of rheumatoid arthritis.

Double encephalocele with an excellent outcome postoperatively: A case report from Iraq.

Background: An encephalocele is a congenital neural tube defect that is estimated to have an incidence of 1-2 cases per 10,000 live births. There have been a few cases of double encephaloceles reported in the medical literature. We report an extremely rare case of double encephalocele with an atrial septal defect in Iraq. Case presentation: A 2-month-old female infant presented with two swellings at the back of her head since birth. Her mother received poor prenatal care. The examination revealed a microcephaly head and two sacs in the occipital region, which were not connected and were covered completely by skin. The surgery includes a transverse incision, excision of both sacs with necrotic tissue, a duroplasty, and a water-tight dural closure. The operation proceeded without any neurological sequelae or cerebrospinal fluid leakage. Conclusion: Double encephalocele is a congenital neural tube defect that is rarely discussed or reported in the medical literature. The management of this condition might be difficult because it requires a special approach for each patient. This case report from Iraq is used to raise awareness about this particular disorder and to motivate clinicians about the importance of early and appropriate management for such cases.

Can the genes communicate with each other after birth? An international cross-sectional study.

Background: Various factors contribute to the pathogenesis of a disease. These include genetic factors, family history, and some idiopathic causes. Genetic makeup has an important role in the progression of disease. This is due to mutations in genetic material, that is, deoxyribonucleic acid (DNA). Methodology: This is a cross-sectional study that involved 5000 participants distributed across 250 countries. All the participants were randomly selected and asked to fill out the online survey. All the participants were fully informed about the study's purpose before providing their consent. Results: The participants were distributed among 250 countries. Their age mean (standard deviation) is 46.7 (12.4). We discovered a significant difference between those who have genetic or congenital diseases and those who have a family history of the disease. Also, there is a statistically significant difference between the recurrence of the disease and the duration of the visits of close relatives who have the same disease. Conclusion: The study suggests that there might be some ways, through gene waves or the environment, in which a gene changes the expression of other genes of similar sequence in different individuals when the required period of contact is provided. In the future, this theory might explain the idiopathic nature of some diseases.

A case report of H-syndrome from Baghdad Medical City treated with tocilizumab.

This case report presents the first H-syndrome rarity in Iraq, a 12-year-old female patient who was attending the Rheumatology out clinic for progressive hands joint deformities. She has a history of a multi-systemic collection of diseases with various clinical features that include beta thalassemia minor, sensorineural deafness, and celiac disease.

Spontaneous mid-trimester uterine rupture associated with fetal death in a young patient during COVID-19 pandemic: A case report.

Uterine rupture mostly occurs in the third trimester. However, it may occur at an earlier time with the same catastrophic consequences. The authors present a case report of uterine rupture occurring in the second trimester at 18 weeks gestation.