The Management of Symptomatic Lumbar Disc Herniation in Pregnancy: A Systematic Review.

STUDY DESIGN: Systematic review. OBJECTIVES: Lumbar disc herniation (LDH) has been reported to affect 1 in 10 000 pregnant women. There is limited evidence available regarding the optimal management of LDH in pregnant patients. We aimed to review the current evidence for the management of symptomatic LDH in pregnancy through critical appraisal and analysis of the available literature. METHODS: Searches were conducted in Medline, Embase, PubMed, Science Direct, and The Cochrane Library from inception using predetermined search terms. All peer-reviewed studies of pregnant women with symptomatic LDH were included. The quality of eligible articles was assessed and extracted data and characteristics were pooled for analysis. References cited by studies were screened to identify other relevant publications. RESULTS: Thirty studies involving 52 patients were identified. Compared to surgically managed patients, conservatively managed patients had a higher full recovery rate (61.54% vs 56.41%) and reported a lower rate of persistent symptoms (30.77% vs 38.54%). Compared to patients who were treated surgically for cauda equina syndrome, patients treated surgically for sciatica had a higher full recovery rate (80.95% vs 27.78%) and reported a lower rate of persistent symptoms (14.29% vs 66.67%). CONCLUSION: There is limited evidence to guide the management of pregnant patients with LDH. Despite a suggestion toward improved outcomes with conservative management, the presence of selection bias and the overall poor quality of current research precludes reliable conclusions from being drawn. Decision making for this patient group should be undertaken within a multidisciplinary setting.

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings.

SUMMARY: Hypogonadotropic hypogonadism is characterised by insufficient secretion of pituitary gonadotropins resulting in delayed puberty, anovulation and azoospermia. When hypogonadotropic hypogonadism occurs in the absence of structural or functional lesions of the hypothalamic or pituitary gland, the hypogonadism is defined as idiopathic hypogonadotropic hypogonadism (IHH). This is a rare genetic disorder caused by a defect in the secretion of gonadotropin releasing hormone (GNRH) by the hypothalamus or a defect in the action of GNRH on the pituitary gland. Up to 50% of IHH cases have identifiable pathogenic variants in the currently known genes. Pathogenic variants in the GNRHR gene encoding the GNRH receptor are a relatively common cause of normosmic IHH, but reports of pathogenic variants in GNRH1 encoding GNRH are exceedingly rare. We present a case of two siblings born to consanguineous parents who were found to have normosmic idiopathic hypogonadotropic hypogonadism due to homozygosity of a novel loss-of function variant in GNRH1. Case 1 is a male who presented at the age of 17 years with delayed puberty and under-virilised genitalia. Case 2 is a female who presented at the age of 16 years with delayed puberty and primary amenorrhea. LEARNING POINTS: IHH is a genetically heterogeneous disorder which can be caused by pathogenic variants affecting proteins involved in the pulsatile gonadotropin-releasing hormone release, action, or both. Currently known genetic defects account for up to 50% of all IHH cases. GNRH1 pathogenic variants are a rare cause of normosmic IHH. IHH is associated with a wide spectrum of clinical manifestations. IHH can be challenging to diagnose, particularly when attempting to differentiate it from constitutional delay of puberty. Early diagnosis and gonadotrophin therapy can prevent negative physical sequelae and mitigate psychological distress with the restoration of puberty and fertility in affected individuals.

Leucine-rich glioma-inactivated protein 1 (LGI-1) mediated limbic encephalitis associated with syndrome of inappropriate antidiuretic hormone secretion: a case report.

Autoantibodies to leucine-rich glioma-inactivated protein 1 (LGI-1) are associated with inflammation of the limbic system. Faciobrachial dystonic seizures are pathognomonic for LGI1-antibiodies and their treatment with immunotherapy is effective in seizure control with a potential to prevent cognitive decline. We report a 57-year-old man who presented to the emergency department with recurrent seizures, visual hallucinations and severe memory impairment over a seven-week period; he reported a background of alcohol excess. Initial investigations revealed hyponatremia, indicating syndrome of inappropriate anti-diuretic hormone secretion. Magnetic resonance imaging of the brain revealed bilateral asymmetrical high-T2 and low-T1 signal in the medial temporal lobes. Serum immunofluorescence assay tested positive for LGI-1 antibody. Patient responded to treatment with levetiracetam, intravenous methylprednisolone and five plasma exchange sessions. Patient remains on a maintenance dose of prednisolone and azathioprine. It is imperative that clinicians recognize signs of autoimmune encephalitis in order to curb long-term sequelae and improve clinical outcomes.

Pseudomyxoma Peritonei Secondary to a Primary Appendix Tumor: A Belly Full of Jelly.

Pseudomyxoma peritonei (PMP) is a rare and life-threatening cancer of the abdominal peritoneum. Symptoms can be non-specific and ignorable for several years such that most cases are diagnosed during explorative surgery. The cornerstones of diagnosis and effective management are heightened awareness and clinical suspicion, timely recognition, and early referral to a specialist center for work-up and cytoreductive surgery. We report an interesting case of a patient with PMP who had successful cytoreductive surgery and heated intraperitoneal chemotherapy.

Undifferentiated Pleomorphic Sarcoma of the Hand with Lung Metastases.

Undifferentiated pleomorphic sarcoma (UPS) is a rare tumor of mesenchymal origin affecting the hand in less than 3% of cases. A 92-year-old male reported an enlarging, painless mass on his left hand of three months duration. Examination of the hand revealed a soft, non-tender, immobile mass over the wrist joint, just proximal to his thumb. Immunohistochemistry findings on ultrasound-guided biopsy were consistent with UPS. Further intractable pain, ulceration, and bleeding necessitated urgent radiotherapy, which provided no relief. This was followed by amputation above the elbow. Seven months later, the patient presented with confusion. A chest X-ray revealed extensive bilateral pulmonary metastases. In light of this result, the patient was referred to the palliative care team. UPS carries a poor prognosis, with a high risk of metastases. Early diagnosis and treatment is required for optimal clinical outcomes. Through this case, we highlight the need for a more effective treatment strategy to improve clinical outcomes.