Hughes syndrome and epilepsy: when to test for antiphospholipid antibodies?

Epilepsy and seizures are reported among the neurological manifestations of antiphospholipid syndrome (APS) at a prevalence rate of approximately 8%, which is nearly 10 times the prevalence of epilepsy in the general population. The association of seizures with antiphospholipid antibodies (aPL) is even more significant in the presence of systemic lupus erythematosus (SLE). In this review, we discuss the epidemiological, pathophysiological, laboratory, clinical, and radiological aspects of this association, and derive suggestions on when to consider testing for aPL in epileptic patients and how to manage seizures secondary to APS based on literature data. Epilepsy due to APS should be considered in young patients presenting with seizures of unknown origin. Temporal lobe epilepsy seems to be particularly prevalent in APS patients. The pathogenesis is complex and may not only involve micro-thrombosis, but also a possible immune-mediated neuronal damage. Patients with seizures and positive aPL tend to develop thrombocytopenia and livedo racemosa more frequently compared with those without aPL. Magnetic resonance imaging (MRI) remains the imaging modality of choice in these patients. The presence of SLE and the presence of neurological symptoms significantly correlate with the presence of white matter changes on MRI. In contrast, the correlation between aPL positivity and the presence of white matter changes is very weak. Furthermore, MRI can be normal in more than 30-40% of neuropsychiatric lupus patients with or without aPL. aPL testing is recommended in young patients presenting with atypical seizures and multiple hyper-intensity lesions on brain MRI in the absence of other possible conditions. New MRI techniques can better understand the pathology of brain damage in neuro-APS. The therapeutic management of epileptic APS patients relies on anti-epileptic treatment and anticoagulant agents when there is evidence of a thrombotic event. In the absence of consensual recommendations, the decision of lifelong anticoagulation is discussed on a case-by-case basis. The anti-thrombotic benefit of hydroxychloroquine and statins is supported by several studies.

[Comparison of the calcium intake during and before Ramadan in Marrakesh, Morocco]. / Comparaison de la ration calcique pendant et en dehors du mois de ramadan dans la région de Marrakech (Maroc).

We studied the effect of Ramadan fasting on calcium intake in 2 groups of 500 healthy subjects from Marrakesh using the colloquial Arabic version of the Fardellone questionnaire. The first group was investigated 5 months before Ramadan and the second during Ramadan. No significant difference was observed between the 2 groups. However, comparison of the pre-Ramadan and Ramadan periods for each age group showed a significant increase in calcium intake in subjects over 60 years. During Ramadan, consumption of milk was significantly higher, while consumption of other dairy products was not different. Overall, no significant difference in calcium intake was noted between pre-Ramadan and Ramadan periods.

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.

OBJECTIVES: Homozygous mutations in HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase, have recently been associated with primary hypertrophic osteoarthropathy (PHO). So far, only 7 HPGD alterations are known. In order to expand this mutational spectrum and better delineate the HPGD-related phenotype, we report the clinical and molecular characterisation of a 13-year-old boy and compare his features to known mutated patients. METHODS: The HPGD gene exons 1-7 and exon-intron junctions were analysed by direct sequencing. Previously published HPGD-mutated patients were systematically reviewed based on the original clinical description. RESULTS: A novel homozygous c.217+1G>A mutation affecting the obligatory donor splice site of HPGD exon 2 was identified in our proband who showed a mild form of PHO. Review of HPGD-mutated patients outlined all patients manifested digital clubbing, periostosis and acro-osteolysis. Hyperhidrosis (92%), arthralgia (65%) and eczema (33%) were variably associated features. Pachydermia (54%) was mild and mostly limited to palms and sole; cutis vertigis gyrata, blepharoptosis and severe skin thickening were never observed. Besides digital clubbing, PHO infants often presented patent ductus arteriosus (PDA) (32%) and delayed cranial sutures closure (55%). CONCLUSIONS: The present findings broaden the allelic spectrum of HPGD gene to include a novel c.217+1G>A mutation. Mutated patients display a homogeneous phenotype mainly consisting in digital clubbing, periostosis, acro-osteolysis, hyperhidrosis and mild pachydermia. Earliest manifestations include delayed closure of the cranial sutures and PDA. In conclusion, the information reported herein would facilitate the diagnosis of PHO due to HPGD mutations.

[Evaluation of the calcium intake in population of Marrakesh and its region: 1000 cases]. / Evaluation de la ration calcique dans la population de Marrakech et de sa région: à propos de mille cas.

OBJECTIVES: The aim of our work is to evaluate the calcium intake in population of Marrakesh and its region by the translated version in Moroccan Arabic dialect of Fardellone questionnaire. SUBJECTS AND METHODS: The version translated into Arabic dialect Fardellone questionnaire is tested on a sample of 1000 subjects. The subjects aged less than 15 years accounted for 30.9% (n=309), those aged 15 to 59 62% (n=620) and those aged over 60 years 7.1% (n=71). The distribution by age group is calculated on the distribution of the Moroccan population. RESULTS: The study population includes 60.6% women (n=606), 39.4% of men (n=394). The mean calcium intake was respectively 5875 mg by week (that means 839 mg/day), 4899 mg by week (that means 699 mg/day), 3053 mg by week (that means 436 mg/day), in subjects aged less than 15, those aged 15 to 59, and those aged over 60 years. The average consumption of calcium per day is significantly lower than the recommended daily amount for the three age groups. Patients aged over 60 years is the age group most under nourished calcium. The comparison of both gender found a deficit higher among women than among men. CONCLUSION: Evaluation of the calcium intake is an essential tool for better management of metabolic bone diseases.

[Comparison of the calcium intake during and before Ramadan in Marrakesh, Morocco]

We studied the effect of Ramadan fasting on calcium intake in 2 groups of 500 healthy subjects from Marrakesh using the colloquial Arabic version of the Fardellone questionnaire. The first group was investigated 5 months before Ramadan and the second during Ramadan. No significant difference was observed between the 2 groups. However, comparison of the pre-Ramadan and Ramadan periods for each age group showed a significant increase in calcium intake in subjects over 60 years. During Ramadan, consumption of milk was significantly higher, while consumption of other dairy products was not different. Overall, no significant difference in calcium intake was noted between pre-Ramadan and Ramadan periods

[Severe pulmonary contusion after extracorporeal shock wave lithotripsy]. / Contusion pulmonaire sévère secondaire à une lithotritie extracorporelle.

Extracorporeal shock wave lithotripsy (ESWL) is a simple and effective treatment of urinary stones. Renowned less aggressive than surgery, it knew a wide success and constitutes therefore the treatment of first intention of the majority of the kidney stones. Nevertheless, traumatic renal and extrarenal complications notably in lung can arise after ESWL. We report the case of a 28-year-old patient who had a pulmonary contusion following a lithotripsy for a left kidney stone and whose evolution was favourable after two weeks in intensive care unit. Through this observation and the analysis of the rare reported cases in the literature, we insist on the different varieties of pulmonary complications of the ESWL, the hypothesis explaining the mechanisms of their arising as well as the precautions to take to avoid them.

[Primary hypertrophic osteoarthropathy in an adolescent]. / Ostéoarthropathie hypertrophiante primitive chez un adolescent.

Hypertrophic osteoarthropathy is a rare syndrome characterized by dysacromelia and periostosis with digital clubbing. Primary form is called pachydermoperiostosis. A case of a primary hypertrophic osteoarthropathy without pachydermia is reported in a 13-year-old boy, which was born of a consanguineous marriage. This case suggested an incomplete form of pachydermoperiostosis with a recessive inheritance. Pachydermoperiostosis is often familial and occurs predominantly in men. This affection is believed to be inherited in an autosomal dominant pattern but some autosomal recessive forms have also been reported.