Decoding enigma: Turner syndrome with ring chromosome

ABSTRACT Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2 months due to congestive cardiac failure along with jaundice and orthopnea. She had growth retardation, intellectual disability, primary amenorrhea, lack of secondary sexual character development and dysmorphic features like low posterior hairline, shield chest and cubitus valgus. She had dilated cardiomyopathy (DCM) with intracardiac thrombus on echocardiography. Skeletal survey revealed short fourth metacarpal/tarsal on limbs. Karyotyping showed a mosaic pattern, with 45, X/46, X,r(X)(p22.3q28), i.e. Turner syndrome karyotype with ring chromosome. Her heart failure with reduced ejection fraction was managed with vasopressor along with anticoagulant and given oral contraceptive pills for hormone replacement therapy. The ring chromosomal pattern of karyotype in this patient and DCM is a rare cardiological phenomenon that can be associated with Turner syndrome, making this case a unique one.</jats:p

A rare case of aggressive invasive fungal sinusitis with multidrug resistant Pseudomonas aeruginosa co-infection in immunocompromised: a therapeutic challenge

&lt;p class="abstract"&gt;Mucormycosis is known to be rapidly progressing and fulminant fungal infection which has the ability to cause significant morbidity and mortality, especially in immunocompromised patients. &lt;em&gt;Pseudomonas aeruginosa &lt;/em&gt;commonly co-isolated bacterial species from chronic wounds are likely to interact and compete with Mucorales spores.We report a 70 years old female who presented to us initially with left facial swelling with a cheek ulcer. She had initially denied the necessary investigations but later presented to us with flared up symptoms. She was a known case of type 2 diabetes mellitus, hypothyroidism and dilated cardiomyopathy on medication with permanent pacemaker implant. She was found to have left maxillary mucormycosis with left sided cheek wound having superinfection with &lt;em&gt;Pseudomonas aeruginosa.&lt;/em&gt; Patient was started on injection Amphotericin B (lipophilic) and injection colistin with surgical debridement of the wound. Left Caldwell-Luc surgery with left inferior meatal antrostomy was performed for clearing fungal debris in left maxillary sinus. The purpose behind this paper is to highlight the need of early detection and aggressive management for successful management of mucormycosis.&lt;/p&gt;</jats:p