BackgroundMitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondrial DNA (mtDNA) content, which leads to malfunction of the components of the respiratory chain. MDS is classified according to the type of affected tissue; the most common type is hepatocerebral form, which is attributed to mutations in nuclear genes such as DGUOK and MPV17. These two genes encode mitochondrial proteins and play major roles in mtDNA synthesis.Case presentationIn this investigation patients in three families affected by hepatocerebral form of MDS who were initially diagnosed with tyrosinemia underwent full clinical evaluation. Furthermore, the causative mutations were identified using next generation sequencing and were subsequently validated using sanger sequencing. The effect of the mutations on the gene expression was also studied using real-time PCR. A pathogenic heterozygous frameshift deletion mutation in DGUOK gene was identified in parents of two affected patients (c.706–707 + 2 del: p.k236 fs) presenting with jaundice, impaired fetal growth, low-birth weight, and failure to thrive who died at the age of 3 and 6 months in family I. Moreover, a novel splice site mutation in MPV17 gene (c.461 + 1G > C) was identified in a patient with jaundice, muscle weakness, and failure to thrive who died due to hepatic failure at the age of 4 months. A 5-month-old infant presenting with jaundice, dark urine, poor sucking, and feeding problems was also identified to have another novel mutation in MPV17 gene leading to stop gain mutation (c.277C > T: p.(Gln93*)).ConclusionsThese patients had overlapping clinical features with tyrosinemia. MDS should be considered a differential diagnosis in patients presenting with signs and symptoms of tyrosinemia.

Background: Pregnancy and postpartum are critical periods for patients with neurological complications. In this study, we aimed to evaluate the clinical characteristics and outcome of pregnant women with neurological conditions. Materials and Methods: This cross-sectional study reviewed pregnant women with neurological signs and symptoms, who were registered in the Medical Care Monitoring Center (MCMC) database of Shiraz University of Medical Sciences 2013-15. A questionnaire was designed to record each patient’s information including demographic variables, past medical history, clinical presentation, obstetric profile, and fetal/maternal outcomes. Results: Totally, 332 mothers were registered in the database. The main neurological complaints in our population were headache, seizure, unilateral neurological symptoms, multiple sclerosis, neuromuscular disorder, and brain tumor. More than half of the patients (54%) experienced headache during the pregnancy and postpartum period. Conclusion: Evaluating the neurological disorders separately, based on the time of symptom onset indicates the importance of follow-up of mothers during peripartum. Our findings suggest that decisions for pregnancy in women with neurological disorders should be based on risks outweighing for the mother and the fetus, particularly regarding the pharmacological side effects. [GMJ.2019;8:e1616]

Dear editor, Cerebral venous sinus thrombosis (CVST) is regarded more common in Iran and other middle-eastern countries. 1,2 As recommended in Islam, sustained fasting in Ramadan is obligatory for all healthy adults. Muslim women are exempted from fasting during menstrual days. 3 Since there are some controversies on the association of Ramadan fasting and CVST, researchers have felt a gap. So they conducted a cross-sectional study to evaluate whether fasting in Ramadan month would increase the incidence of CVST. 3,4 This is a retrospective cross-sectional study done in Namazi Hospital affiliated with Shiraz University of Medical Sciences in Iran from 2009 to 2015. This is a high-volume referral center for stroke in southern Iran. All patients with any cerebrovascular disease (CVD), ischemic or hemorrhagic/arterial or venous, were enrolled in a data set. The ratio of CVST to all CVD patients was calculated in Ramadan and in all other lunar months. Overall, 13,094 CVD patients and 332 CVST patients were recruited in seven consecutive years. A total of 38 CVST and 942 CVD patients were admitted in Ramadan while fasting and 294 CVST and 12,152 CVD patients were admitted in other lunar months. CVST illustrated a significant increase in Ramadan compared to the rest of the year (p value ¼ 0.029) and people were 1.4 times more likely to develop CVST in this month. The CVST-CVD ratio in Ramadan and other months was estimated to be 0.4 and 0.02, respectively (p value ¼ 0.05). This increase in the risk of CVST in Ramadan can be explained by the effect of dehydration and hyperviscosity. Some women take oral contraceptive pills (OCPs) to prevent menstruation during Ramadan fasting which may have an adjuvant effect. 5 In the first week of fasting, dehydration occurred in Muslims 6 which led to hyperviscosity and can be an

Intracranial arterial stenosis (ICAS) is one of the main causes of ischemic stroke According to western epidemiological studies, 8-10% of ischemic strokes are attributable to intracranial stenosis. Three modalities of treatment considered for intracranial atherosclerotic disease include; aggressive medical therapy, endovascular revascularization with angioplasty and stent, and extracranial-intracranial bypass surgery. At present, medical management should be the first line of therapy for the most patients with symptomatic intracranial arterial stenosis. Angioplasty and stenting can be considered in some patients that are unstable or have multiple ischemic events in the territory despite aggressive medical management.

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