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Case Report
Case Report: Asymmetric Retinal and Fundal Fluorescein Angiogram Findings in Col4A1 Mutation
Yan Tong Koh*
,
Conrad Schmoll
Issue:
Volume 7, Issue 1, March 2026
Pages:
1-4
Received:
7 September 2025
Accepted:
18 September 2025
Published:
23 January 2026
Abstract: Purpose: We aim to describe the fundal fluorescein angiography (FFA) findings in a patient with COL4A1 mutation which to date has not been described in this condition. We hope to highlight the variability in ocular phenotypes seen in COL4A1 mutation, even between eyes in the same patient. Methods: Case Report. Results: A 14 year-old girl with a history of cerebral palsy, cerebral visual impairment and COL4A1 mutation with porencephaly has been attending the eye service for bilateral aphakic glaucoma with previous bilateral glaucoma tube surgery on Latanoprost, Brinzolamide and Timolol to both eyes. She developed a spontaneous right vitreous haemorrhage and anterior chamber hyphaema, subsequently requiring a vitrectomy and anterior chamber washout due to elevated intraocular pressure. Intraoperatively, she was noted to have extensive ischemic changes in the right eye. In her left fundus, there were sclerosed arterioles emanating from the disc, with the rest of the retina being normal. Despite the vitrectomy, the right eye vitreous haemorrhage and hyphaema recollected over time with persistently high intraocular pressure. She underwent a repeat vitrectomy and washout, subsequent cyclodiode laser and evisceration after she developed a painful blind right eye. During the course of her treatment, a FFA for her left eye was performed. Delay in arm-retinal time and a “fern-leaf” pattern of capillary leakage was noted. Discussion: The disease resulting from COL4A1 mutation is extremely variable. We report a patient with COL4A1 mutation with asymmetric retinal pathology with one eye eventually needing evisceration. This case highlights the need to have a high index of suspicion for early detection and asymmetric disease. There should be a low threshold for further evaluation such as FFA or optical coherence tomography (OCT) angiography to evaluate for ocular perfusion. Although COL4A1 is a systemic disease, it can have asymmetric presentation between two eyes.
Abstract: Purpose: We aim to describe the fundal fluorescein angiography (FFA) findings in a patient with COL4A1 mutation which to date has not been described in this condition. We hope to highlight the variability in ocular phenotypes seen in COL4A1 mutation, even between eyes in the same patient. Methods: Case Report. Results: A 14 year-old girl with a his...
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Case Report
A Case Report Highlighting the Impact of Socio-cultural Misunderstandings on Psychiatric Diagnosis
Puja Neupane*,
Shailendra Raj Adhikari
Issue:
Volume 7, Issue 1, March 2026
Pages:
5-8
Received:
30 August 2025
Accepted:
18 September 2025
Published:
30 January 2026
Abstract: Psychiatric diagnoses are often shaped not only by patient-reported symptoms but also by the clinician’s interpretation, and both processes are highly influenced by sociocultural context. This case report describes a 52-year-old woman who was initially diagnosed with Bipolar Affective Disorder (BPAD) despite the absence of clear evidence for manic or hypomanic episodes. Her presenting symptoms primarily included persistent insomnia, restlessness, and multiple somatic complaints, which on the surface appeared complex and difficult to categorize. However, upon hospital admission and through careful, repeated evaluation, it was revealed that her difficulties were more closely linked to chronic stress arising from long-standing familial obligations, social responsibilities, and culturally ingrained expectations rather than from an underlying bipolar condition. Over time, her diagnosis was revised to a depressive episode, and with appropriate treatment she demonstrated marked improvement in sleep, mood, energy, and overall functioning. This case vividly illustrates how cultural norms, coping mechanisms, and socially reinforced patterns of expressiveness can sometimes be misinterpreted as psychopathology, thereby complicating clinical judgment. In her situation, emotional expressiveness, resilience in dealing with family burdens, and heightened involvement in social roles were mistakenly viewed as indicators of bipolar illness. Such misinterpretations underscore the danger of overlooking cultural context, which may result in diagnostic errors, unnecessary stigma, ineffective treatment plans, and prolonged patient suffering. The case therefore emphasizes the critical importance of adopting a culturally informed approach in psychiatric assessments, one that seeks to carefully distinguish between genuine psychopathological symptoms and behaviors that are normative, adaptive, or culturally shaped. By systematically integrating cultural and social understanding into diagnostic evaluations, clinicians can enhance diagnostic accuracy, avoid mislabeling, and ensure that treatment strategies are both individualized and therapeutically effective. Ultimately, culturally sensitive assessments contribute to improved mental health outcomes, strengthen the therapeutic alliance, and foster a more compassionate model of psychiatric care.
Abstract: Psychiatric diagnoses are often shaped not only by patient-reported symptoms but also by the clinician’s interpretation, and both processes are highly influenced by sociocultural context. This case report describes a 52-year-old woman who was initially diagnosed with Bipolar Affective Disorder (BPAD) despite the absence of clear evidence for manic ...
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Case Report
A Maternal Near-Miss: A Case Report of Prolonged Labour Due to Female Genital Mutilation at the Bole District Hospital, Ghana
Issue:
Volume 7, Issue 1, March 2026
Pages:
9-13
Received:
2 September 2025
Accepted:
12 September 2025
Published:
20 February 2026
DOI:
10.11648/j.wjmcr.20260701.13
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Views:
Abstract: Introduction: Ghana continues to grapple with the complex issue of female genital mutilation/cutting (FGM/C), a practice marked by notable regional disparities. Driven by multifaceted motivations, including deeply ingrained cultural values, perceived benefits for the girl child, and efforts to curb sexual promiscuity, FGM/C poses significant health risks. This article presents a near-miss case of a 19-year-old woman who experienced prolonged labour and postpartum haemorrhage (PPH) due to complications arising from FGM/C. Case Presentation: A 19-year-old woman with a history of FGM/C presented with prolonged labour and PPH. Physical examination revealed Type 3 FGM/C (infibulation) complicated by multiple perineal and vaginal tears. A vaginal delivery was facilitated by bilateral episiotomy, and the episiotomies and lacerations were subsequently repaired. Due to significant blood loss from PPH, the patient received 2 units of whole blood. Fortunately, the mother recovered physically well, with normal urinary and faecal continence, and the baby pair is doing well. However, true recovery in this case will require an enabling environment and supportive care to address her psychosocial needs. Conclusion: We strongly recommend a comprehensive approach to eradicate FGM/C, including awareness creation, strengthening anti-FGM/C laws, and providing a supportive environment that promotes the physical, psychological, and social well-being of victims. Collective efforts by all stakeholders are crucial to achieving this goal and ensuring that women and girls are protected from the harmful effects of FGM/C.
Abstract: Introduction: Ghana continues to grapple with the complex issue of female genital mutilation/cutting (FGM/C), a practice marked by notable regional disparities. Driven by multifaceted motivations, including deeply ingrained cultural values, perceived benefits for the girl child, and efforts to curb sexual promiscuity, FGM/C poses significant health...
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Case Report
Vertebral Instability Syndrome as the Initial Manifestation of Advanced Tuberculosis in an Immunocompetent Patient:
A Case Report
Issue:
Volume 7, Issue 1, March 2026
Pages:
14-17
Received:
16 January 2026
Accepted:
29 January 2026
Published:
21 February 2026
DOI:
10.11648/j.wjmcr.20260701.14
Downloads:
Views:
Abstract: Introduction: The inability of the spine to perform movements in the absence of pain or neurological manifestations is related to the term instability. Currently, rigorous records of endemic infectious diseases are scarce in our region, as are data on vertebral neoplasms; therefore, the diagnostic approach is complex. In 2025, 11 patients with tuberculosis were evaluated at the University Hospital of the Andes - Merida, Venezuela. It is known that the main risk factors for developing this disease are related to malnutrition and immunodeficiency. Clinically, the diagnostic considerations for tuberculosis include the typical aspects of a bacterial infection, and when vertebral lesions are present, neoplastic space-occupying lesions are considered more frequent. Likewise, in rare cases where there are no risk factors for the development of any type of infection, the diagnosis often goes unnoticed. Case presentation: We present the case of a 44-year-old male patient, currently incarcerated, who presented with a four-month history of progressive back pain. He subsequently developed paresthesia, decreased sensation and motor function beginning in the T4 dermatome, impaired bowel and bladder control, and paraparesis with hyperreflexia. An imaging study performed five months after the onset of symptoms revealed an extensive retropleural space-occupying lesion extending from T3 to T12. Due to the established chronic neurological deficit, two possible approaches were considered: percutaneous biopsy versus thoracotomy. A right posterolateral thoracotomy between the 5th and 6th ribs was chosen, with the participation of thoracic surgery and neurosurgery teams. Excision of approximately 250 grams of a yellowish, granular, Caseo-type mass was achieved, and a biopsy of the granuloma was taken. A chest tube was left in place and there were no post-operative complications. Results: The caseous material analysis showed: absence of acid-fast bacilli or bacterial morphology, presence of -3 leukocytes/field, no fungal elements were observed on KOH, and the culture was negative at 48 hours. The granulomatous tissue biopsy showed: chronic “caseating” (necrotizing) inflammation consistent with tuberculous etiology. The postoperative course was satisfactory with a decrease in pain within 24 hours. Pharmacological treatment was initiated with rifampicin, isoniazid, and ethambutol, with excellent results; absence of pain, although dystonia persisted in the lower extremities with paraparesis. Conclusions: It can be concluded that the diagnostic approach to vertebral tuberculosis in immunocompetent patients is complex, as it is a rare entity; however, a high clinical suspicion with appropriate selection of diagnostic methods can be useful.
Abstract: Introduction: The inability of the spine to perform movements in the absence of pain or neurological manifestations is related to the term instability. Currently, rigorous records of endemic infectious diseases are scarce in our region, as are data on vertebral neoplasms; therefore, the diagnostic approach is complex. In 2025, 11 patients with tube...
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