Cowden syndrome with Lhermitte–Duclos disease presenting as ataxia.

Cowden syndrome or multiple hamartoma syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origin. A 45-year-old man presented to us with a history of dural arteriovenous fistula and intracerebral bleed in the past with gradually progressive difficulty in walking. Magnetic resonance imaging (MRI) of the brain showed a heterogeneous lesion in the cerebellum which was diagnosed as adult Lhermitte–Duclos disease which is considered a component of Cowden syndrome. On examination we found florid skin and mucosal manifestations of Cowden syndrome. A family history of thyroid malignancy was also present. Using the Cleveland Clinic web calculator, the patient had an 82% chance of having a phosphatase and tensin homologue (PTEN) mutation.

Primary haemophagocytic syndrome in a young girl.

Haemophagocytic syndrome is a life-threatening systemic illness characterized by an uncontrolled inflammatory response. Patients present with fever, hepatosplenomegaly, jaundice and liver dysfunction, neurological manifestations and often pancytopenia. Bone marrow, lymph node, hepatic or splenic biopsy shows macrophages with ingested blood cells or their precursors. Laboratory markers include elevated triglycerides and ferritin, low fibrinogen with normal or low erythrocyte sedimentation rate (ESR). Familial haemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder. Secondary haemophagocytic syndrome results from infections, malignancy and collagen vascular disorders. We describe a young girl with primary haemophagocytic syndrome.

Oestrus ovis ophthalmomyiasis with keratitis.

A 35-year-old male patient presented with complaints of redness, swelling around the eyelids, watering, and irritation in the right eye. At presentation his best-corrected visual acuity was 20/20 partial in the right eye. The tarsal conjunctiva of the upper eyelid showed injection with pseudomembrane. Underneath the pseudomembrane we noticed four motile larvae. The cornea showed an irregular cobweb-like mucous plaque adherent to the epithelium, with a clear stroma. The pseudomembrane was easily peeled-off under topical anaesthesia. The organisms were removed and identified as Oestrus ovis. Three days later the patient was comfortable and his visual acuity was 20/20 in the right eye.