RESUMEN
Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease that includes various forms of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. Kartagener?s syndrome is a rare disorder and the prevalence is about 1 in 30,000. It is autosomal recessive ciliary disorder comprising the triad of situs inversus totalis, chronic sinusitis, and bronchiectasis. The defective movement of cilia leads to recurrent respiratory infections, and ear/ nose/ throat infections, and infertility. The diagnosis is made clinically and confirmed through electron microscopy, which reveals abnormalities of structural organization of the axoneme in cilia from respiratory epithelia and in spermatozoa. Underlying structural defects include 1) absent inner and/or outer dynein arms, 2) tubular defects, and 3) radial spoke defects. We hereby report a rare case of Kartagener?s syndrome, in an infertile male with immotile sperms. The clinician should have a high index of suspicion, so as to make an early diagnosis. An early diagnosis helps in making the options for timely treatment of infertility may be offered and unnecessary evaluation is avoided.
RESUMEN
Syringomyelia is a pathologic cystic cavity within the spinal cord containing cerebrospinal fluid (CSF). It is commonly seen as a complication of an Arnold-Chiari type 1 malformation, which is the herniation of cerebellar tonsils through foramen magnum into cervical spinal canal. Syringomyelia can also occur as complication of hemorrhage, tumor, meningitis, arachnoiditis, or trauma. Symptoms usually begin to appear in early and middle life. These symptoms usually consist of pain, dissociated sensory loss and weakness that present and progress gradually. We herewith report a rare case of syringomyelia and associated Chiari I malformation presenting with dissociated sensory impairment in neck region with headache and neck pain Treatment in these cases is surgical decompression. Recovery with significant decrease in sensory loss and relief in headache and neck pain.
RESUMEN
Takayasu arteritis is a well-known yet rare form of large vessel vasculitis. Takayasu arteritis affects mainly women, and is most commonly seen in Japan, South East Asia, India, and Mexico, where it usually presents in the 2nd or 3rd decade of life. It is seen usually as pulseless disorder often with bruit at the stenosed arteries. Manifestations range from asymptomatic disease, to catastrophic strokes. Angiography remains the gold standard for diagnosis. Approximately half of those patients treated with steroids will respond, and half of the remaining patients respond to methotrexate; mycophenolatemofetil may be useful. Fertility is not adversely affected and pregnancy does not appear to exacerbate the disease, although management of hypertension is essential. We herewith report a rare case of an11 year old girl, who presented with left-sided hemiparesis, dysarthria, left UMN facial palsy, feeble pulses on right side, high Blood Pressure recordings and positive anti- cardiolipin antibodies. Imaging studies revealed Occluded right Common carotid artery, occluded right subclavian artery and stenotic right renal artery and MRI showed Acute Infarcts in Right Basal Ganglia and Right High Parietal Region, Hemorrhagic infarct in right MCA subcortical area.The diagnosis of Takayasu arteritis with recent cerebrovascular accident (left hemiparesis) with hypertension was made and the patient was started on steroids, anti-platelets, anti-hypertensives and physiotherapy.