A Case of Neuroschistosomiasis Presenting as Transverse Myelitis: The Importance of History Taking.

Neuroschistosomiasis is a rare manifestation of Schistosoma infection and can either manifest as cerebritis or with spinal cord involvement. We present a case of low back pain and lower limb weakness, which was initially managed as idiopathic transverse myelitis and later on found to have neuroschistosomiasis. A 23-year-old Sudanese gentleman presented with a one-week history of low back pain, lower limb weakness, and urinary retention. An urgent MRI of the spine with contrast showed features suggestive of transverse myelitis. The patient was treated with intravenous methylprednisolone for five days, which showed significant improvement in his symptoms. One week later, the patient developed the same symptoms again. An urgent MRI spine showed an interval progression of MRI findings. Repeat history taking revealed a history of swimming many times in the river Nile. Serology was sent for Schistosoma and came positive with titer 1:1280. He was treated as neuroschistosomiasis with intravenous steroids for three days, followed by praziquantel for five days along with the steroids, after which he showed significant improvement in his lower limb weakness. Spinal neuroschistosomiasis is one of the very rare complications of Schistosoma infection that should be kept in mind when dealing with unexplained myelopathy with a history of travel or origin from an endemic area. If not treated promptly, it can result in severe irreversible complications.

Primary Hypoparathyroidism Mimicking Ankylosing Spondylitis in a Young Man with Fahr's Syndrome: A Case Report.

Patients with chronic idiopathic hypoparathyroidism may develop neurological complications, including calcification of the basal ganglia and other areas of the brain. In Fahr's syndrome, intracranial calcification is associated with an underlying disorder such as hypo or hyperparathyroidism. We report the case of a 37-year-old gentleman, with a history of bilateral cataract surgery and seizures, who presented with a new episode of seizure and was found to have severe hypocalcemia and bilateral symmetric intracranial calcification due to previously diagnosed primary hypoparathyroidism. He had symptoms and signs mimicking ankylosing spondylitis (AS), but with negative radiological and serological findings, not fitting into the diagnosis of axial spondyloarthropathies (SpA), as per standard criteria. Patients with long-standing idiopathic hypoparathyroidism can have severe calcification of soft tissues and bones, including vertebrae and paravertebral soft tissues, causing inflammatory back pain and stiffness. It is vital to report such cases as their occurrence is rare, and physicians should be aware of the possibility while evaluating patients with inflammatory back pain. Treatment in these cases is directed towards hypocalcemia and underlying primary pathology rather than spondyloarthropathy.

Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11ß-hydroxysteroid dehydrogenase type 2 deficiency.

Mutations in 11ß-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the HSD11B2 gene result either in severe AME or a milder phenotype (type 2 AME). To date, ∼40 causative mutations have been identified. As part of the International Consortium for Rare Steroid Disorders, we have diagnosed and followed the largest single worldwide cohort of 36 AME patients. Here, we present the genotype and clinical phenotype of these patients, prominently from consanguineous marriages in the Middle East, who display profound hypertension and hypokalemic alkalosis. To correlate mutations with phenotypic severity, we constructed a computational model of the HSD11B2 protein. Having used a similar strategy for the in silico evaluation of 150 mutations of CYP21A2, the disease-causing gene in congenital adrenal hyperplasia, we now provide a full structural explanation for the clinical severity of AME resulting from each known HSD11B2 missense mutation. We find that mutations that allow the formation of an inactive dimer, alter substrate/coenzyme binding, or impair structural stability of HSD11B2 yield severe AME. In contrast, mutations that cause an indirect disruption of substrate binding or mildly alter intramolecular interactions result in type 2 AME. A simple in silico evaluation of novel missense mutations could help predict the often-diverse phenotypes of an extremely rare monogenic disorder.

In vivo study of pomegranate (Punica granatum) peel extract efficacy against Giardia lamblia in infected experimental mice

Objective: To investigate the efficacy of pomegranate (Punica granatum) peel extract as an alternative treatment on the white laboratory mice against giardiasis. Methods: Experimental animals were divided into five groups, including Group A:control (infected untreated), Group B: infected and fed with pectin 7 days before infection, Group C: infected and fed with pectin starting from 7th day of infection, Group D:infected and fed with pomegranate peel extract 7 days before infection, and Group E: infected and fed with pomegranate peel extract starting from 7th day of infection. Results: Results from this study revealed that the prevention rate in the experimental groups reached approximately 50%by the 10th day of using pomegranate peel extract. Moreover, stool cyst counts of groups showed a significant reduction in the shedding of cysts approximately 75.6%by day 20 post-infection. ELISA test showed a reduction in Giardia antigen in the stools of the experimental groups which received pomegranate peel extract. The cure rate of these groups was approximately 97.4% by 28th day of infection. Conclusions: Our present findings indicated that the pomegranate peel extract proved to be valuable in prevention and treatment of Giardia lamblia infection. Further studies are required to determine the effective dose of pomegranate peel extract against Giardia lamblia infection.

A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred.

Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder causing severe hypertension in childhood due to a deficiency of 11ß-hydroxysteroid dehydrogenase type 2 (11ßHSD2), which is encoded by HSD11B2. Without treatment, chronic hypertension leads to early development of end-organ damage. Approximately 40 causative mutations in HSD11B2 have been identified in ∼100 AME patients worldwide. We have studied the clinical presentation, biochemical parameters, and molecular genetics in six patients from a consanguineous Omani family with AME. DNA sequence analysis of affected members of this family revealed homozygous c.799A>G mutations within exon 4 of HSD11B2, corresponding to a p.T267A mutation of 11ßHSD2. The structural change and predicted consequences owing to the p.T267A mutation have been modeled in silico. We conclude that this novel mutation is responsible for AME in this family.