Neuroschistosomiasis mimicking lower back pain: case report of a rare differential diagnosis in a pediatric patient

Background

Spinal myelitis is an infrequent manifestation of spinal cord infection. It is caused by the Schistosoma species, which are endemic in South America, part of the Middle East, and Africa.

Case presentation

We report the case of a 13-year-old male adolescent complaining of progressive lower back pain and weakness of the lower extremities for 3 days. Initial magnetic resonance imaging revealed typical transverse myelitis. Subsequently, parasite serology showed a markedly elevated level of Schistosoma antibody titers, and cerebrospinal fluid analysis yielded normal results. Because of our presumptive diagnosis of neuroschistosomiasis, the patient was prescribed an empirical regimen of an anti-parasitic agent, after which his neurological deficit promptly subsided. The patient was followed for 1 year and showed a complete long-term resolution of symptoms.

Conclusions

This case highlights the increasing prevalence of neuroschistosomiasis in recent years, particularly in patients with a history of travel to endemic regions. Moreover, the study reports the clinicoradiological features of this enigmatic disorder. This rare occurrence potentiates further studies to address unanswered questions about neuroschistosomiasis.

     

Association of hyperhomocysteinemia with genetic variants in key enzymes of homocysteine metabolism and methotrexate toxicity in rheumatoid arthritis patients

Objectives

The study investigated the association between plasma homocysteine, folate and vitamin B12 with 5,10 methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), thymidylate synthase (TYMS 2R → 3R) and methionine synthase (MTR A2756G) polymorphisms and methotrexate (MTX) treatment and toxicity in Tunisian Rheumatoid arthritis (RA) patients.

Methods

A total of 185 patients with RA were included. Homocysteine (Hcy) was assessed by fluorescence polarization immunoassay, and folate and vitamin B12 were measured by chemiluminescence immunoassays. The genetic polymorphisms were analyzed by PCR or PCR-RFLP. Hyperhomocysteinemia (HHC) was considered for Hcy?>?15 µmol/L.

Results

MTHFR C677T polymorphism was associated with HHC in RA patients (multi-adjusted OR, 95% CI 2.18, [1.07–4.57]; p?=?0.031). No association was detected with the remaining polymorphisms. Plasma Hcy, folate, and vitamin B12 did not differ according to each polymorphism, or with MTX treatment or toxicity. However, HHC was more prevalent in patients with than those without MTX toxicity (32.7 vs. 16.7%; p?=?0.035).

Conclusions

The MTHFR 677TT genotype is an independent risk factor for HHC in Tunisians RA patients. HHC could be a useful marker of MTX toxicity in RA patients.

     

CHILD syndrome: A modified pathogenesis‐targeted therapeutic approach

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X‐linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase‐like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis‐targeted therapy have been developed. We subsequently chose to use the same pathogenesis‐based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis‐targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.

     

Bio-enteric Intragastric Balloon in Obese Patients: A Retrospective Analysis of King Faisal Specialist Hospital Experience

Background  

Bio-enteric intragastric balloon (BIB) insertion is gaining popularity for weight reduction in obese patients. We evaluated the efficacy, tolerability, and safety of BIB in the treatment of obesity.     

Pheochromocytoma presenting with severe abdominal pain and abnormal liver enzymes

Pheochromocytoma can present with right hypochondrial pain, elevated liver enzymes, and a misleading appearance on ultrasound scan mimicking hepatic mass due to the proximity of adrenal masses to the liver.