We report a case of a 21-year-old man with underlying nephrotic syndrome (NS) secondary to minimal change disease, who developed an ischemic stroke with left hemiparesis. He received intravenous thrombolysis followed by a mechanical thrombectomy. After mechanical thrombectomy, he developed acute kidney injury which subsequently required haemodialysis. Further workup revealed that he had concomitant antiphospholipid syndrome (APS) and NS. He was started on vitamin K antagonist anticoagulant. This case report illustrates the importance of workup in identifying causes of ischemic stroke in a young patient.
Thrombosis is one of the causes of morbidity and mortality in women of reproductive age group. Thrombosis at unusual sites may pose diagnostic and management dilemma for health care personnel. Teamwork and good communication provide the best modalities for maximum benefits to patients. Here with, we presented a case series of thrombosis at unusual sites seen and managed in our clinic.
A 35 year-old Malay lady presented with left hemiparesis while she was on oestrogen based combined contraception pills (C-OCP). Imaging studies showed extensive venous thrombosis with bilateral acute cortical infarct. Thrombophilia screening of antiphospholipid syndrome were negative. She was put on anticoagulant and stopped 2 years after the incident.
A 40 year-old Malay lady presented with abdominal discomfort, lethargy and massive splenomegaly. Bone marrow and trephine examination revealed primary myelofibrosis with positive JAK2617F. Imaging study showed chronic portal vein thrombosis with portal vein hypertension, complicated by gastro-oesophageal varices. She was put on hydroxyurea and later started on ruxolitinib with banding done over her gastro-oesophageal varices.
A 26 year-old Malay lady presented with serositis, mouth ulcer and anaemia symptoms. Laboratory studies were positive for systemic lupus erythematosus and negative for antiphospholipid study. Imaging study showed long segment thrombosis of right internal jugular vein with surrounding subcutaneous oedema. She is currently stable on anticoagulants and steroid. Teamwork and holistic approach is practiced in the investigation and management to provide maximum benefits for patients.
Cerebral Venous Thrombosis in patients with Evan’s Syndrome of autoimmune hemolytic anemia is rare. The
common neurological symptoms are headaches, vision loss, dyslexia without agraphia, motor aphasia,
unilateral upper limb weakness and papilloedema. We present a case report of a lady with a known case of
Evan’s Syndrome whom presented with severe anemia and unilateral right sided hemiparesis with right facial
weakness. Plain and Contrast enhanced CT brain showed bilateral high parietal white matter edema with
venous thrombosis in the right transverse and superior sagittal venous sinuses. At the time of the diagnosis,
she was in hematological remission.
Introduction: Down syndrome (DS) is caused by trisomy of human chromosome 21 (HSA21). Motor dysfunction due to hypotonia has limited labour productivity and have significant effects on socio-economic status in DS individuals. Ts1Cje, a mouse model of DS that exhibits muscle weakness was employed, to investigate the expression profile of selected trisomic and disomic genes involved in skeletal muscle structure and function. Methods: Quadriceps and triceps were harvested from the Ts1Cje (C57BL/6) postnatal day 60-70 mice and corresponding wild-type littermates. Total RNA extracted from these tissues was subjected for quantitative expression profiling of three trisomic genes (Itsn1, Synj1 and Rcan1) involved in neurotransmission and six disomic genes (Lamc1, Leprel1, Myl6b, Msn, Pgm5 and Tmod1) essential for maintenance of muscle structure and function. Real-time quantitative PCR method was used for the profiling. Results: Differential gene expression in DS is reflected by 1.5-fold or more increase in the level of expression as predicted by the gene dosage imbalance hypothesis. The analysis showed no significant changes in the expression level of trisomic genes (Itsn1, Synj1 and Rcan1). On contrary, disomic genes, Leprel1 and Pgm5, were upregulated for more than 1.5-fold in DS quadriceps whereas Lamc1, Myl6b and Pgm5 were upregulated for more than 1.5 fold in DS triceps as compared to the wild-type group. Conclusions: Our findings suggest that the dysregulation of Lamc1, Leprel1, Myl6b and Pgm5 genes is associated to muscle weakness seen in Ts1Cje and may play a role in molecular pathogenesis of muscle weakness in DS.
Children with Down syndrome have a higher risk of stroke. Similarly, intravenous immunoglobulin (IV Ig) is also known to cause a stroke. We reported a 3-year-old boy with Down syndrome who presented with severe pneumonia and received IV Ig. He developed right hemiparesis 60 hours after the infusion. Blood investigations, echocardiography and carotid Doppler did not suggest vasculitis, thrombophilia or extracranial dissection. Brain computerised tomography (CT) showed acute left frontal and parietal infarcts. Initial magnetic resonance angiography (MRA) of cerebral vessels showed short segment attenuations of both proximal middle cerebral arteries and reduction in the calibre of bilateral supraclinoid internal carotid arteries. The boy was treated with enoxaparin and aspirin. He only had partial recovery of the hemiparesis on follow-up. A repeat MRA 13 months later showed parenchymal collateral vessels suggestive of moyamoya disease. We recommend imaging the cerebral vessels in children with a high risk of moyamoya before giving IV Ig.