Pituitary Macroadenoma in a Girl with Male Karyotype: A Rare Case Study.

Macroadenoma is a tumor that typically develops in the epithelial cells of the pituitary gland. Patients suffering from the condition are often asymptomatic with complaints that are caused by hormonal imbalance. Therefore, chromosome analysis needs to be done to females aged >16 years presenting with amenorrhea. Karyotype 46,XY is a disorder of sex development (DSD) that is caused by the complex process of gene interactions, androgen synthesis, and hormone regulation. The patient initially came to the hospital for a scheduled transsphenoidal surgery due to pituitary macroadenoma, and later complained of primary amenorrhea and atypical external genital. Furthermore, physical examination of genitalia revealed mild clitoromegaly without obvious introitus vagina. Laboratory testing showed elevated prolactin and testosterone level, while ultrasonography imaging revealed the absence of the uterus and ovaries. The brain magnetic resonance imaging (MRI) demonstrated a pituitary adenoma, and cytogenetic analysis showed 46,XY karyotype. Subsequently, hyperprolactinemia, imaging, and histopathology examination were used to confirm pituitary macroadenoma in the patient. It was assumed that the undermasculinized genitalia was caused by hormonal disorders including the deficiency of androgen action or 5-alpha-reductase enzyme. 46,XY DSD has many different symptoms, hence, clinicians need to be aware of potential multifactorial aetiologies. Imaging of internal genitalia, hormonal and chromosomal analysis should be carried out to assess patients with unknown causes of the disorder. Molecular analysis needs to be carried to exclude the possible gene mutation.

Immunohistochemical Expression of IDH1, ATRX, Ki67, GFAP, and Prognosis in Indonesian Glioma Patients.

Background: The current World Health Organization (WHO) 2021 classification of human glioma is based on key molecular biomarkers to define neoplastic entities. This review further delineates mutant IDH (isocitrate dehydrogenase) from wild-type IDH disease, a necessity given the large survival gap between mutant IDH and wild-type IDH tumors. In Indonesia, there are currently few reports on the distribution and significance of these mutations. Therefore, this research aims to determine the relationship between IDH mutations, as well as clinicopathological and prognostic factors in patients with gliomas. Other immunohistochemical markers including ATRX (alpha-thalassemia/mental retardation, X-linked), Ki67 and GFAP (glial fibrillary acidic protein) expression were also evaluated. Methods: Forty-two glioma samples were collected from patients who underwent surgery at Dr. Kariadi General Hospital in Semarang, Central Java, Indonesia. Fresh and paraffin-embedded, formalin-fixed tissue samples were removed and sectioned for hematoxylin and eosin staining, immunohistochemistry, and IDH analysis of mutation. Medical records were used to collect clinicopathological and survival data. Results: IDH1 mutations were discovered in 32 (76,1%) patients, and those with IDH1 mutation had longer overall survival when corresponded to patients with IDH1-wild-type. Lower expression of Ki67 was discovered to be very associated with a better prognosis. Conclusion: IDH1 mutations status showed a significant relationship with prognosis in patients with glioma. Meanwhile, other markers (ATRX, Ki67, and GFAP) did not correlate with the prognosis.

Surgery for Radiologically Normal-Appearing Temporal Lobe Epilepsy in a Centre with Limited Resources.

Approximately 26-30% of temporal lobe epilepsy (TLE) cases display a normal-appearing magnetic resonance image (MRI) leading to difficulty in determining the epileptogenic focus. This causes challenges in surgical management, especially in countries with limited resources. The medical records of 154 patients with normal-appearing MRI TLE who underwent epilepsy surgery between July 1999 and July 2019 in our epilepsy centre in Indonesia were examined. The primary outcome was the Engel classification of seizures. Anterior temporal lobectomy was performed in 85.1% of the 154 patients, followed by selective amygdalo-hippocampectomy and resection surgery. Of 82 patients (53.2%), Engel Class I result was reported in 69.5% and Class II in 25.6%. The median seizure-free period was 13 (95% CI,12.550-13.450) years, while the seizure-free rate at 5 and 12 years follow-up was 96.3% and 69.0%, respectively. Patients with a sensory aura had better seizure-free outcome 15 (11.575-18.425) years. Anterior temporal lobectomy and selective amygdala-hippocampectomy gave the same favourable outcome. Despite the challenges of surgical procedures for normal MRI TLE, our outcome has been favourable. This study suggests that epilepsy surgery in normal MRI TLE can be performed in centres with limited resources.

Seizure Outcomes in Patients with Complete versus Anterior Corpus Callosotomy: Analysis of Outcome.

INTRODUCTION: Corpus callosotomy (CCT) is a palliative procedure to treat injurious drop attacks or multifocal/generalized seizures in which resection of the epileptogenic focus is not feasible. We are presenting our experience in treating intractable epilepsy patients by CCT procedures. METHODS: We observed 16 patients who underwent callosotomy (male to female ratio 7:9; adult to pediatric ratio 3:13). Initial seizure frequency was reported ranged from 1 to 2 attacks daily to very often (more than 20 episodes daily). RESULTS: Our observation showed that among patients with drop attacks, complete and >90% seizure freedom was reported by 4 and 6 of 13 patients, respectively (76.9% combined). CONCLUSION: Our observation showed that corpus callosotomy yielded good outcome in patients with intractable epilepsy in Indonesia. Our observation showed total callosotomy achieved complete seizure freedom better compared to partial callosotomy patients.

Pneumorrhachis and hyponatremia after a neck hack-A case report.

INTRODUCTION: Penetrating cervical spinal cord injury (SCI) is a rare clinical entity that requires a multitude of health care specialists for proper management. The unpredictable nature of penetrating SCI and complex systemic sequela contribute to the high mortality rates of penetrating SCI. PRESENTATION OF CASE: An 18-year-old-male patient was admitted to the emergency department with tetraparesis following a penetrating injury to the neck. Radiological examination revealed fractures of C4 and C5 spinous processes and extensive intradural pneumorrhachis. The patient was managed operatively with laminectomy, vertebral augmentation, and duroplasty. An acute decreased level of consciousness was observed four days after the operation. Laboratory investigation revealed critically low plasma sodium level. The patient remained decerebrated despite electrolyte correction and pronounced brain dead on the seventh postoperative day. DISCUSSION: Metabolic derangements and pulmonary physiologic changes following trauma are lethal complications. Hyponatremic encephalopathy and disrupted pulmonary function caused by high cervical compression by the extensive pneumorrhachis contributes to the morality in this case report. CONCLUSION: This case report presents a rare clinical entity along with its' complications. Prompt clinical stabilization, strict biochemical monitoring, and multidisciplinary care from health care specialists are mandatory for SCI patients.

Hemispherotomy for drug-resistant epilepsy in an Indonesian population.

Hemispherotomy is a surgical treatment indicated in patients with drug-resistant epilepsy due to unilateral hemispheric pathology. Hemispherotomy is less invasive compared with hemispherectomy. We reviewed our experience performing 24 hemispherotomy and report the results of 16 patients with prolonged follow-up of this relatively uncommon procedure in two centers in Indonesia. This is a retrospective observational study conducted from 1999 to July 2019 in two epilepsy neurosurgical centers in Semarang, Indonesia. Surgical techniques included vertical parasagittal hemispherotomy (VPH), peri-insular hemispherotomy (PIH), and modified PIH called the Shimizu approach (SA). The postoperative assessment was carried out using the Engel classification system of seizure outcome. Seizure freedom (Engel class I) outcome was achieved in 10 patients (62.5%), class II in 3 patients (18.7%), class III in 2 patients (12.5%), and class IV in 1 patient (6.3%) with follow-up duration spanning from 24 to 160 months. To the best of our knowledge, this series is the most extensive documentation of hemispherotomy in an Indonesian population.