فهرست مطالب

  • Volume:7 Issue: 4, 2020
  • تاریخ انتشار: 1398/11/21
  • تعداد عناوین: 2
|
  • Hosein Eslamiyeh* Pages 20-22

    Niemann-Pick C disease is an atypical lipid storage disorder with the interesting manifestations. We reported a three and a half-year-old boy with unusual presentations. The patient presented with progressive spastic paraplegia and exaggerated Deep Tendon reflexes with high Lactate Dehydrogenase since 6 months ago .In further investigations, spinal Magnetic Resonance Imaging, Lumbar Puncture, serum amino acid chromatography and infectious studies were normal. To rule out malignancies, bone marrow aspiration obtained and mild myeloid preponderance observed. Two months later, he admitted to the hospital with exacerbation of walking disorder and ataxia. Due to deterioration of symptoms, bone marrow aspiration repeated and foamy cells observed. For establishment of diagnosis, genetic test performed and mutation of NPC-1 gene was found. The special characteristic of this case was the onset of neurological manifestation by progressive spastic paraplegia in a patient older than 3 years old however, the disease was not an early-infantile form.

    Keywords: Niemann–Pick type C, lysosomal storage disease, progressive spastic paraplegia
  • Hassanali Vahedian Ardakani* Pages 23-26

    Pulmonary mucormycosis is a rare disease, difficult to diagnose and treat condition. This case is a 59-year-old man known case of acute myeloid leukemia (AML), presented with 1-month long productive cough, along with fever and neutropenia. Pulmonary mucormycosis was confirmed as the diagnosis by transbronchial lung biopsy. While antibacterial therapy was ineffective, amphotericin B was initiated as the treatment and continued for 20 days, with consequent improvement on symptoms. The patient was discharged thereafter, and antifungal regimen was continued with oral posaconazole syrup. Amputation of the left hand was done, subsequent to subclavian artery compression due to mass effect from upper lobe of the left lung.

    Keywords: pulmonary mucormycosis, diagnosis, treatment