Neonatal Marfan syndrome: A case report

A case of neonatal Marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal Marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members.     

X-linked Ichthyosis Presenting as Erythroderma: A Rare Case

X-linked ichthyosis is a rare form of dermatological disease and when it presents as erythroderma it is even rarer. History of consanguineous marriage and prolonged labor during birth of patient, generalized scaling which gets better in summer months, flexural involvement, cryptorchidism made a diagnosis of X-linked ichthyosis. We report this case because of its rarity as erythroderma.     

CoMFA, CoMSIA, and docking studies on thiolactone-class of potent anti-malarials: identification of essential structural features modulating anti-malarial activity

The integrated ligand‐ and structure‐based drug design techniques have been applied on a homogeneous dataset of thiolactone‐class of potent anti‐malarials, to explore the essential structural features for the inhibition of Plasmodium falciparum. Developed CoMFA (q² = 0.716) and CoMSIA (q² = 0.632) models well explained structure–activity variation in both the training (CoMFA R² = 0.948 & CoMSIA R² = 0.849) and test set (CoMFA R²_pred = 0.789 & CoMSIA R²_pred = 0.733) compounds. The docking and scoring of the most active compound 10 into the active site of high‐resolution (2.35 Å) structure of FabB‐TLM binary complex (PDB‐ID: 1FJ4) indicated that thiolactone core of this compound forms bifurcated H‐bonding with two catalytic residues His298 and His333, and its saturated decyl side group is stabilized by hydrophobic interactions with the residues of a small hydrophobic groove, illustrating that the active site architecture, including two catalytic histidines and a small hydrophobic groove, is vital for protein–ligand interaction. In particular, the length and flexibility of the side group attached to the position 5 of thiolactone have been observed to play a significant role in the interaction with FabB enzyme. These results present scope for rational design of thiolactone‐class of compounds that could furnish improved anti‐malarial activity.     

Perianal verrucous epidermal nevus masquerading as warts

Verrucous epidermal naevus(VEN) is a rare form of epidermal naevus. We present a case of VEN occurring over the perianal region of a 7-year-old boy. The lesion was initially thought to be an area of chronic dermatitis; however it was refractory to treatment. Histopathology confirmed the diagnosis of VEN. VEN in the inguinogenital region may be misdiagnosed as flexural psoriasis, genital warts or sexual abuse. This is what precisely happened to our patient for a duration of more than 1 year.     

Isolated upper eyelid retraction: a sign of idiopathic inflammatory orbital disease

A 41-year-old woman was examined for left upper eyelid retraction. Remaining ocular and systemic examination was unremarkable. Orbital CT demonstrated an ill-defined, extraconal, superior orbital soft-tissue mass involving the levator palpebrae superioris muscle. Incisional biopsy with histopathology demonstrated idiopathic orbital inflammation. The patient was started on a gradually tapering dose of oral steroids, for 6 weeks. On follow-up, the eyelid retraction had resolved. We report this case to demonstrate that idiopathic inflammatory orbital disease, localized to the superior orbit, may cause isolated upper eyelid retraction without associated proptosis. This condition resolves with medical therapy, leading to symmetrical palpebral apertures.     

Community-acquired methicillin-resistant Staphylococcus aureus (CAMRSA)--a rare cause of fulminant orbital cellulitis

We report a 55-year-old female patient who developed a severe right-sided orbital cellulitis. Past history was significant for a boil on the right upper eyelid 2 days prior. Visual acuity at presentation was perception of light with inaccurate projection. Orbital computed tomography (CT) scan and routine blood investigations, including blood culture, urine examination, and urine culture, were performed. CT scan showed a superonasal orbital mass suggestive of an abscess. Abscess drainage followed by pus culture, sensitivity, and pulsed-field gel electrophoresis revealed community-acquired methicillin-resistant Staphylococcus aureus (CAMRSA) resistant to all antibiotics except vancomycin, cotrimoxazole, and amikacin. The condition completely resolved post antibiotic and steroid therapy. At 3 months follow-up, the vision in the right eye was 6/9. We report this case to highlight CAMRSA as a rare but virulent cause of orbital cellulitis; empiric antibiotic therapy should include coverage for CAMRSA until susceptibilities come back.     

Nevirapine-induced Stevens-Johnson syndrome in an HIV patient

PURPOSE: To report a case of nevirapine-induced Stevens-Johnson syndrome (SJS) misdiagnosed as viral keratitis. METHODS: A 35-year-old AIDS patient, on antiretroviral therapy (ART) with stavudine, nevirapine, and lamivudine, developed bilateral ocular congestion and irritation. He was being treated elsewhere for bilateral herpetic epithelial keratitis. On progressive worsening of symptoms, he presented with complaints of severe photophobia and foreign-body sensation in both eyes. RESULTS: The patient's history was evaluated in detail. The patient had apparently been on multidrug ART until he developed SJS 3.5 months ago. Nevirapine was subsequently discontinued. No ophthalmologic opinion was sought until a month before. He was diagnosed and was treated for bilateral herpetic epithelial keratitis for 1 month. Ocular surface examination revealed bilateral severe dry eyes, with multiple corneal erosions. The inferior fornices showed cicatricial bands. The patient was suspected to have SJS-induced dry eyes, with associated epithelial defects. The epithelial defect edges were debrided and subjected to viral cell culture and polymerase chain reaction for herpes simplex. The patient was started on hourly preservative-free tear substitutes. Amniotic membrane transplantation (as a patch graft) was performed. A successful response to therapy within 10 days, along with a negative viral culture and polymerase chain reaction report, confirmed our diagnosis. CONCLUSIONS: Ophthalmologists need to be aware of the high risk of development of ocular adverse reactions in AIDS patients on ART before ascribing the ocular symptoms to more severe opportunistic infections.