Distal vaginal agenesis (DVA) is a rare form of female genital tract malformation that presents as cryptomenorrhea. It results from the failure of the urogenital sinus to form the caudal portion of the vagina. Through a thorough history, physical examination and appropriate imaging studies, an accurate diagnosis is integral in selecting the correct intervention for the patient. This is a case of distal vaginal agenesis in a 10-year-old nulligravid, who presented with fecal retention from an abdominopelvic mass. The patient had no bowel movement for four days, and abdominal enlargement. On inspection, there was a 12.0cm x 10.0cm palpable abdominal mass. Inspection of the external genitalia, the introitus appeared concave, with no appreciable introital opening. On digital rectal examination, an anterior bulge was palpated 0.5 cm from the anal verge. A pull-through vaginoplasty was performed with an unremarkable post-operative course. The patient was discharged with a patent vagina and resolution of her gastrointestinal symptoms. On follow-up, the patient had monthly menstruation after surgery with no recurrence of her gastrointestinal symptoms.

Human ; Female ; Child: 6-12 Yrs Old ; Congenital Abnormalities ; Digital Rectal Examination ; Defecation

A unicornuate uterus with a non-communicating rudimentary horn is a rare Müllerian duct anomaly that is frequently underdiagnosed because of its variable clinical presentation and the limitations of conventional imaging modalities. Although not considered a direct cause of infertility, it may coexist with other reproductive pathologies and contribute to adverse reproductive outcomes. Presented here is a case series of three infertile women aged 30–36 years who were diagnosed with a unicornuate uterus and non-communicating rudimentary horn during fertility evaluation. Patient A presented with primary infertility, cyclic pelvic pain, endometriosis, and bilateral tubal disease; Patient B had a seven-year history of primary infertility and was initially suspected to have unilateral tubal obstruction; and Patient C was referred with a presumed diagnosis of uterine didelphys and was subsequently found to have a unicornuate uterus with a non-communicating rudimentary horn and ipsilateral renal agenesis. In all three cases, preoperative imaging failed to establish the definitive diagnosis, which was confirmed intraoperatively through laparoscopy, chromotubation, and hysteroscopy. Patients A and B underwent laparoscopic excision of the rudimentary horn with ipsilateral salpingectomy, while Patient C underwent only ipsilateral salpingectomy. Hysteroscopic transillumination was utilized in one case to facilitate safe laparoscopic dissection and delineation of the hemiuterine anatomy. All patients had uneventful postoperative recovery and were subsequently counseled regarding fertility options. This case series highlights the diagnostic challenges posed by unicornuate uterus with a non-communicating rudimentary horn, emphasizes the importance of a high index of suspicion during infertility work-up, and demonstrates the value of minimally invasive surgical management and hysteroscopic transillumination in selected cases. Early recognition and individualized treatment may help reduce reproductive complications and improve fertility counseling and management.

Human ; Female ; Adult: 25-44 Yrs Old ; Infertility, Female ; Laparoscopy ; Salpingectomy ; Hysteroscopy ; Pathology ; Endometriosis ; Fallopian Tube Diseases ; Transillumination ; Uterine Didelphys

BACKGROUND

The benefits of preimplantation genetic testing for aneuploidy (PGT-A) in the advanced maternal age group are unclear.

OBJECTIVE

This study aims to determine whether PGT-A improves pregnancy outcomes.

METHODS

This is a retrospective cohort study of PGT-A outcomes using next generation sequencing for advanced maternal age women undergoing IVF at CARMI from May 2017 to May 2021. Women were grouped by age: those 35-39 and those 40 and above. Pregnancy rate (PR), live birth rate (LBR), and miscarriage rate (MR) were computed per transfer and per cycle and compared with women who underwent single day-5 frozen transfer of a morphologically chosen embryo.

RESULTS

Overall euploid blastocyst rate was 38.5%: 16.9% for 40 and above and 47.6% for 35- 39 group. There were no transfers in 41.4% due to absence of a euploid embryo. PR and LBR per embryo transfer were higher in the PGT-A versus the non-PGT-A group (61.9% vs 24.1% p = < 0.001 and 42.9% vs 19% p = < 0.001). By age, the findings were similar: higher PR and LBR per-embryo transfer in PGT-A versus non-PGT-A in the 35-39 group (58.4% and 29%, p = 0.006 and 42.9% vs 22.6%, p < 0.001 respectively) and 40 and above (71.4% vs 18.5%, p < 0.001 and 53.6% vs 14.8%, p < 0.001 respectively). MR was increased in the PGT-A versus non-PGT-A group, but this may be due to the small number of events in the population.

CONCLUSION

The study suggests an increase in PR and LBR per embryo transfer in advanced maternal age women undergoing PGT-A. A larger sample size is needed to validate the results.

Human ; Female ; Fertilization In Vitro ; Aneuploidy ; High-throughput Nucleotide Sequencing ; Blastocyst ; Embryo Transfer ; Abortion, Spontaneous

Appendicitis is one of the most commonly encountered general surgery emergencies worldwide and has been extensively studied. However, anatomical variations in the position of the appendix may result in atypical clinical presentations, leading to diagnostic difficulty and delays in management. Reported here is a case of subhepatic appendicitis in a young adult patient who successfully underwent laparoscopic appendectomy. Subhepatic appendicitis is a rare surgical entity that should be considered in patients presenting with right upper quadrant abdominal pain. Contrast-enhanced computed tomography and laparoscopy are valuable tools in the diagnosis and management of this uncommon condition.

Human ; Female ; Adult: 25-44 Yrs Old ; Laparoscopy ; Appendectomy ; Appendix ; Appendicitis ; Abdominal Pain

OBJECTIVE

To discuss the clinical presentation and management of idiopathic hypertrophic pachymeningitis that presented with multiple cranial neuropathies.

METHODS

This is a case report.

CASE PRESENTATION

A 37-year-old female presented with right-sided headache and ipsilateral cranial nerve (CN) I, II, III, IV, and V deficits which improved with nonsteroidal anti-inflammatory drugs (NSAIDs). Six months later she developed bilateral blurring of vision with pain on eye movement, which progressed to severe bilateral affectation that prompted admission and treatment with high-dose methylprednisolone therapy followed by prolonged oral steroid treatment which was gradually tapered. Recurrence was treated with oral steroids and azathioprine. Diagnostic modalities included an initial cranial contrast computed tomography (CT) scan which was inconclusive; contrast magnetic resonance imaging (MRI) clinched the diagnosis, as well as demonstrated thickening of the optic nerve perineurium. Visual field analysis 30-2 as well as optic nerve head optical coherence tomography (OCT) were used to support the diagnosis and document optic nerve affectation. Biologic testing was used to rule out tuberculosis, syphilis, fungal infection, granulomatosis with polyangiitis, polyarteritis nodosa, and rheumatoid arthritis. The patient had complete vision recovery in the left eye but only partial vision recovery in the right eye.

CONCLUSIONS

Pachymeningitis should be a diagnostic consideration in patients with headache and multiple cranial neuropathies. Clinicians should always perform independent evaluation of diagnostic modalities with the patient’s clinical presentation in mind. Pachymeningitis can involve the perineurium through contiguous spread of the lesion and present as optic perineuritis as well, with more insidious progression and lasting deficits than isolated optic perineuritis.

Human ; Female ; Adult: 25-44 Yrs Old ; Cranial Nerve Diseases ; Meningitis

OBJECTIVE

To report a case of lacrimal gland adenoid cystic carcinoma in a 37-year-old female managed with globe-sparing surgery and adjuvant radiotherapy.

METHODS

This is a case report.

CASE PRESENTATION

This report details a 37-year-old Filipino female who presented with a 4-month history of right eye pain and non-axial proptosis. Computed tomography (CT) scan showed a right heterogenous extraconal mass with orbital roof remodeling. Lateral orbitotomy with excision biopsy was performed. Final histopathologic diagnosis of adenoid cystic carcinoma of the lacrimal gland was made based on the classic morphology and distinct arrangement of the neoplastic cells. Systemic surveillance revealed absence of metastases. Patient completed adjuvant radiotherapy four months post-operatively. Vision was preserved at 20/20 without signs of tumor recurrence five months post-operatively.

CONCLUSION

Adenoid cystic carcinoma is an aggressive lacrimal gland malignancy; hence, meticulous examination and high index of suspicion cannot be over-emphasized. Globe-sparing surgery with adjuvant radiotherapy could significantly preserve quality of life.

Human ; Female ; Adult: 25-44 Yrs Old ; Lacrimal Apparatus ; Lacrimal Gland ; Carcinoma, Adenoid Cystic ; Radiotherapy, Adjuvant ; Adenoids

OBJECTIVE

To present a case of chronic invasive infection rhinosinusitis (CIFRS) complicated by orbital apex syndrome, highlighting the significant diagnostic challenges and delays encountered before establishing the diagnosis.

METHODS

This is a case report.

CASE PRESENTATION

This patient is a 65-year-old diabetic female, status post-kidney transplantation with immunosuppressant use presented with headache and sudden painless vision loss and extraocular limitation of the right eye. Magnetic resonance imaging (MRI) revealed a right-sided ill-defined nasopharyngeal mass, with nasopharyngeal carcinoma as the radiologic consideration. Biopsy revealed bacterial and fungal elements. During admission, antibiotics, antifungals, and tumor debulking was done but symptoms persisted. Histopathology showed reactive inflammatory tissue; hence, a short course of intravenous high-dose steroids was given. Overall health declined and patient eventually expired.

CONCLUSION

This case highlights the importance of maintaining high clinical suspicion for fungal infection despite non-specific radiologic findings in immunocompromised patients with vague, localized symptoms. Prompt recognition and tissue diagnosis are critical for early intervention.

Human ; Female ; Aged: 65-79 Yrs Old ; Mycoses ; Fungal Infection ; Nasopharyngeal Carcinoma

BACKGROUND

Spinocerebellar Ataxia (SCA) represents a rare and heterogeneous group of neurodegenerative disorders, typically characterized by the progressive loss of coordination of movement, resulting primarily from cerebellar dysfunction. This case report discusses the history, clinical presentation, and diagnostic findings of a patient who exhibited symptoms suggestive of SCA. Given the notable familial pattern, further evaluation was undertaken using genetic testing. The objective of this paper is to present the clinical, genetic findings, and inheritance pattern of a patient and her family with SCA.

CASE PRESENTATION

Our case is a 36-year-old Filipino female with progressive cerebellar dysfunction for over a decade. Cranial Magnetic Resonance Imaging (MRI) revealed bilateral cerebellar atrophy. Genetic testing identified a Variant of Uncertain Significance (VUS) in the inositol 1,4,5- triphosphate receptor type 1 (ITPR1) gene, a finding consistent with Spinocerebellar Ataxia type 15 (SCA 15). This represents the first reported case of SCA 15 in the Philippines and in Asia.

A detailed pedigree assessment revealed that 18 immediate and extended family members had similar symptoms suggestive of hereditary ataxia. Ten relatives had already passed away, and four could not be contacted for further evaluation. Three available family members were examined and likewise demonstrated comparable cerebellar findings, supporting a familial pattern of the disease.

CONCLUSION

The findings from this case series suggest that SCA 15 may be present in Filipino families, with an autosomal dominant (AD) inheritance pattern. While no data on the prevalence or incidence of SCA15 in the Philippines currently exists, this report calls attention to the need for further research and genetic studies within the Filipino population.

Human ; Female ; Adult: 25-44 Yrs Old ; Spinocerebellar Ataxias ; Ataxia ; Mutation ; Genes ; Asia

Introduction: Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy, with an incidence of 1–2 cases per million annually. Its occurrence during pregnancy is exceptionally uncommon, presenting significant diagnostic and management challenges due to overlapping physiological changes and concerns for both maternal and fetal outcomes. While most cases are hormonally functional, non-functioning ACC during pregnancy is particularly rare and may result in delayed diagnosis. Case: A 35-year-old Malay female was referred following ultrasonography for persistent back and left flank pain, which revealed a left adrenal incidentaloma and a concurrent 10-week intrauterine pregnancy. There were no clinical signs of hormone excess. Physical examination revealed a normotensive patient with a large, palpable left abdominal mass, without Cushingoid or virilizing features. Magnetic resonance imaging (MRI) demonstrated a 12.1 × 10.3 × 12.8 cm heterogeneous left adrenal mass with cystic and necrotic components, displacing adjacent structures. Hormonal evaluation was within normal limits: 24-hour urinary cortisol 320.2 nmol/24 hours (reference range [RR] 11.8–350), midnight salivary cortisol <3 and 4.2 nmol/L (RR <11.3), plasma metanephrine <0.2 nmol/L (RR <0.5), normetanephrine 0.6 nmol/L (RR <0.9), and 17-hydroxyprogesterone 223 ng/dL (RR <285), consistent with a non-functioning tumor. Following multidisciplinary consultation, the patient underwent open left adrenalectomy at 16 weeks’ gestation. Histopathological analysis confirmed ACC (Weiss score 8/9) without extra-adrenal extension. Surveillance MRI at 32 weeks demonstrated no recurrence or residual mass. At 40 weeks’ gestation, she delivered a healthy infant, and both mother and child remain well on follow-up. Conclusion Non-functioning ACC during pregnancy is rare and poses significant diagnostic challenges. Early imaging, comprehensive hormonal assessment, and timely surgical intervention during the second trimester are essential. Multidisciplinary management is crucial to optimizing maternal and fetal outcomes.
Female ; Pregnancy ; Heart Rate ; Neoplasms

Introduction: Diabetic ketoacidosis (DKA) in pregnancy is an uncommon yet life-threatening emergency, with disproportionate risks to both mother and fetus. Pregnancy-specific physiological changes predispose patients to rapid metabolic decompensation, often with atypical presentations. Despite this, local data remain limited. We describe the clinical profile, precipitating factors, and outcomes of DKA in pregnancy in a tertiary centre, with emphasis on potentially preventable triggers. Cases: Nine pregnant patients with DKA were identified from a retrospective review of all cases admitted for DKA from 2002 to 2025. Mean age was 31.67 ± 5.20 years; all were Malay. The majority had type 2 diabetes mellitus (55.6%), followed by type 1 diabetes (33.3%) and latent autoimmune diabetes in adults (11.1%). The mean period of amenorrhea was 19.67 ± 12.62 weeks. Infection was the leading precipitant (44.4%), with additional triggers including insulin omission (22.2%), hyperemesis gravidarum, preterm labor, steroid exposure, and perioperative fasting. Most diagnoses were made in the emergency department (55.6%). Biochemical parameters reflected significant severity (mean bicarbonate 7.89 ± 2.98 mmol/L; anion gap 25.00 ± 5.81), with 88.9% classified as severe DKA. Intensive Care Unit (ICU) care was required in 77.8% of cases. The majority (77.8%) were admitted to the ICU unit, with a median time to resolution of 13.00 ± 12.00 hours (interquartile range [IQR]), and the median hospital length of stay was 7.00 ± 5.00 days (IQR). Complications during treatment included hypokalemia (33.3%), acute kidney injury (22.2%), and hypoglycemia (11.1%). Rebound DKA occurred in one-third of patients. All patients were discharged clinically stable. Outcome data demonstrated pregnancy loss in three cases and one preterm birth. Conclusion DKA in pregnancy remains a severe and resource-intensive condition. This series highlights missed opportunities in prevention, with modifiable precipitants such as infection and insulin omission commonly identified. The high severity at presentation suggests delays in recognition. Early detection, optimized metabolic care, and targeted preventive strategies are crucial to improving maternal and fetal outcomes.
Female ; Pregnancy ; Diabetic Ketoacidosis